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Tytuł:
Newborn Hearing Screening Results for Infants With Prenatal Opioid Exposure in Southern Appalachia.
Autorzy:
Hite MK; Department of Audiology and Speech Language Pathology, East Tennessee State University, Johnson City.
Chroust AJ; Department of Psychology, East Tennessee State University, Johnson City.
Proctor-Williams K; Department of Audiology and Speech Language Pathology, East Tennessee State University, Johnson City.
Lowe JL; Department of Audiology and Speech Language Pathology, East Tennessee State University, Johnson City.
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Źródło:
Journal of speech, language, and hearing research : JSLHR [J Speech Lang Hear Res] 2024 Apr 08; Vol. 67 (4), pp. 1268-1280. Date of Electronic Publication: 2024 Mar 22.
Typ publikacji:
Journal Article
MeSH Terms:
Analgesics, Opioid*
Neonatal Screening*
Infant, Newborn ; Infant ; Female ; Pregnancy ; Humans ; Retrospective Studies ; Noise ; Hearing/physiology ; Evoked Potentials, Auditory, Brain Stem/physiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
'Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: A qualitative study protocol of stakeholder perspectives.
Autorzy:
Kariyawasam DS; Department of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.
Scarfe J; Faculty of Medicine and Health, Sydney School of Public Health, Menzies Centre for Health Policy & Economics, The University of Sydney, Camperdown, New South Wales, Australia.
Meagher C; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.
Farrar MA; Department of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.
Bhattacharya K; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Randwick and Westmead, New South Wales, Australia.; Faculty of Medicine and Health, Discipline of Genomics, Sydney University, Westmead, New South Wales, Australia.
Carter SM; Australian Centre for Health Engagement, Evidence and Values, School of Health and Society, The University of Wollongong, Wollongong, New South Wales, Australia.
Newson AJ; Sydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
Otlowski M; Centre for Law and Genetics, Faculty of Law, College of Arts, Law and Education, University of Tasmania, Tasmania, Australia.
Watson J; HTA Consumer Consultative Committee, Department of Health & Aged Care, Canberra, Australian Capital Territory, Australia.
Millis N; Rare Voices Australia, Mentone, Victoria, Australia.
Norris S; Faculty of Medicine and Health, Sydney School of Public Health, Menzies Centre for Health Policy & Economics, The University of Sydney, Camperdown, New South Wales, Australia.
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Źródło:
PloS one [PLoS One] 2024 Mar 25; Vol. 19 (3), pp. e0299336. Date of Electronic Publication: 2024 Mar 25 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*
Genome*
Infant ; Child ; Humans ; Infant, Newborn ; Genomics ; Parents ; Qualitative Research
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Autorzy:
Cao Z; Clinical Research Unit, Shanghai Children's Hospital, Shanghai Jiao Tong University Medical School, Shanghai, China.; Institute of Pediatric Infection, Immunity, and Critical Care Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
He X; Center for Clinical Molecular Laboratory Medicine of Children's Hospital of Chongqing Medical University, Chongqing, China.
Wang D; Center for Clinical Molecular Laboratory Medicine of Children's Hospital of Chongqing Medical University, Chongqing, China.
Gu M; Center of Medical Genetics, Xuzhou Maternal and Child Health Care Hospital, Xuzhou, China.
Suo F; Center of Medical Genetics, Xuzhou Maternal and Child Health Care Hospital, Xuzhou, China.
Qiang R; Center of Medical Genetics, Northwest Women and Children's Hospital, Xi'an, China.
Zhang R; Center of Medical Genetics, Northwest Women and Children's Hospital, Xi'an, China.
Song C; Center of Medical Genetics, Northwest Women and Children's Hospital, Xi'an, China.
Wang X; Center of Medical Genetics, Inner Mongolia Maternal and Child Health Care Hospital, Hohhot, China.
Zhu B; Center of Medical Genetics, Inner Mongolia Maternal and Child Health Care Hospital, Hohhot, China.
Cao D; Medical Genetic Laboratory, Dalian Municipal Women and Children's Medical Center (Group), Dalian, China.; Genetic Laboratory, Shenyang Jinghua Hospital Co., Ltd, Shenyang, China.
Yu H; Medical Genetic Laboratory, Dalian Municipal Women and Children's Medical Center (Group), Dalian, China.
Qu Y; Newborn Screening Center of Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China.
Shen G; Medical Laboratory Center of Huzhou Maternal and Child Health Care Hospital, Huzhou, China.
Wu J; Research and Development Department, MyGenostics Inc., Beijing, China.
Wang P; Research and Development Department, MyGenostics Inc., Beijing, China.
Wang J; Clinical Research Unit, Shanghai Children's Hospital, Shanghai Jiao Tong University Medical School, Shanghai, China.; Institute of Pediatric Infection, Immunity, and Critical Care Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Zhang H; Clinical Research Unit, Shanghai Children's Hospital, Shanghai Jiao Tong University Medical School, Shanghai, China.; Institute of Pediatric Infection, Immunity, and Critical Care Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yan Z; Clinical Research Unit, Shanghai Children's Hospital, Shanghai Jiao Tong University Medical School, Shanghai, China.; Institute of Pediatric Infection, Immunity, and Critical Care Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yu G; Clinical Research Unit, Shanghai Children's Hospital, Shanghai Jiao Tong University Medical School, Shanghai, China.; Institute of Pediatric Infection, Immunity, and Critical Care Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Zou L; Clinical Research Unit, Shanghai Children's Hospital, Shanghai Jiao Tong University Medical School, Shanghai, China.; Institute of Pediatric Infection, Immunity, and Critical Care Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Center for Clinical Molecular Laboratory Medicine of Children's Hospital of Chongqing Medical University, Chongqing, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2357.
Typ publikacji:
Multicenter Study; Journal Article
MeSH Terms:
Neonatal Screening*/methods
High-Throughput Nucleotide Sequencing*/methods
Humans ; Infant, Newborn ; Pilot Projects ; Exome Sequencing ; Genotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Analysis of audiological outcomes of children referred from a universal newborn hearing screening program over 9 years in Beijing, China.
Autorzy:
Li Y; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Yang X; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Wang C; Maternal and Child Health Hospital of Chao Yang District, Beijing, China.
Cheng X; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Qi B; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
En H; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Wen C; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Yu Y; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Deng L; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Liu D; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Fu X; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.; Ear Science Institute Australia, Subiaco, WA, Australia.
Liu H; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Huang L; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China. .; Beijing Institute of Otolaryngology, Beijing, China. .; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China. .
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Źródło:
Scientific reports [Sci Rep] 2023 Dec 19; Vol. 13 (1), pp. 22630. Date of Electronic Publication: 2023 Dec 19.
Typ publikacji:
Journal Article
MeSH Terms:
Evoked Potentials, Auditory, Brain Stem*
Neonatal Screening*/methods
Infant, Newborn ; Child ; Humans ; Beijing/epidemiology ; Retrospective Studies ; Hearing Tests/methods ; Otoacoustic Emissions, Spontaneous/physiology ; Infant, Very Low Birth Weight
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Newborn screening for sickle cell disease in Kisangani, Democratic Republic of the Congo: an update.
Autorzy:
Kasai ET; Department of Pediatrics, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.
Gulbis B; Department of Clinical Chemistry, Erasmus Hospital, Université Libre de Bruxelles, Brussels, Belgium.
Ntukamunda JK; Department of Pharmacy, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.
Bours V; Biochemical Genetics Laboratory, Human Genetics, CHU of Liège, University of Liège, Liège, Belgium.
Batina Agasa S; Department of Internal Medicine, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.
Marini Djang'eing'a R; Department of Clinical Chemistry, Erasmus Hospital, Université Libre de Bruxelles, Brussels, Belgium.; Laboratory of Analytical Pharmaceutical Chemistry, Faculty of Medicine, University of Liège, Liège, Belgium.
Boemer F; Biochemical Genetics Laboratory, Human Genetics, CHU of Liège, University of Liège, Liège, Belgium.
Katenga Bosunga G; Department of Obstetrics and Gynecology, Kisangani University Clinics, University of Kisangani, Kisangani, The Democratic Republic of the Congo.
Ngbonda Dauly N; Department of Pediatrics, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.
Sokoni Vutseme J; Department of Anthropology, Faculty of Social, Administrative and Political Sciences, University of Kisangani, Kisangani, Democratic Republic of the Congo.
Boso Mokili B; Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.
Alworong'a Opara JP; Department of Pediatrics, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.
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Źródło:
Hematology (Amsterdam, Netherlands) [Hematology] 2023 Dec; Vol. 28 (1), pp. 2213043.
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*
Anemia, Sickle Cell*/diagnosis
Anemia, Sickle Cell*/epidemiology
Anemia, Sickle Cell*/genetics
Infant ; Infant, Newborn ; Child ; Humans ; Democratic Republic of the Congo/epidemiology ; Hemoglobin, Sickle/genetics ; Point-of-Care Testing ; Hemoglobin A
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
Autorzy:
Garnier N; Pfizer Inc., Collegeville, Pennsylvania, United States of America.
Berghout J; Pfizer Inc., Collegeville, Pennsylvania, United States of America.
Zygmunt A; Pfizer Inc., Collegeville, Pennsylvania, United States of America.
Singh D; Pfizer Inc., Collegeville, Pennsylvania, United States of America.
Huang KA; Pfizer Inc., Collegeville, Pennsylvania, United States of America.
Kantz W; Pfizer Inc., Collegeville, Pennsylvania, United States of America.
Blankart CR; KPM Center for Public Management and Swiss Institute for Translational and Entrepreneurial Medicine, University of Bern, Bern, Switzerland.
Gillner S; KPM Center for Public Management and Swiss Institute for Translational and Entrepreneurial Medicine, University of Bern, Bern, Switzerland.
Zhao J; Department of Mathematics and Computer Science, University of Southern Denmark, Odense, Denmark.
Roettger R; Department of Mathematics and Computer Science, University of Southern Denmark, Odense, Denmark.
Saier C; Department of Neuropediatric and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Kirschner J; Department of Neuropediatric and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Schenk J; Takeda Pharmaceuticals International AG, Opfikon, Switzerland.
Atkins L; Takeda Pharmaceuticals International AG, Opfikon, Switzerland.
Ryan N; Takeda Pharmaceuticals International AG, Opfikon, Switzerland.
Zarakowska K; Takeda Pharmaceuticals International AG, Opfikon, Switzerland.
Zschüntzsch J; Department of Neurology, University Medical Center Goettingen, Göttingen, Germany.
Zuccolo M; F. Hoffmann La-Roche, Basel, Switzerland.
Müllenborn M; Novo Nordisk Health Care AG, Switzerland &Novo Nordisk A/S, Kloten, Denmark.
Man YS; Novo Nordisk Health Care AG, Switzerland &Novo Nordisk A/S, Kloten, Denmark.
Goodman L; University College Dublin, National University of Ireland, Dublin, Ireland.
Trad M; Lysogene, Neuilly-sur-Seine, France.
Chalandon AS; Sanofi, Diegem, Belgium.
Sansen S; Sanofi, Diegem, Belgium.
Martinez-Fresno M; Illumina, Cambridge, United Kingdom.
Badger S; Illumina, Cambridge, United Kingdom.
Walther van Olden R; Novartis Gene Therapies Switzerland GmbH, Risch-Rotkreuz, Switzerland.
Rothmann R; Research Institute AG & Co KG, Digital Human Rights Center, Wien, Austria.
Lehner P; Research Institute AG & Co KG, Digital Human Rights Center, Wien, Austria.
Tschohl C; Research Institute AG & Co KG, Digital Human Rights Center, Wien, Austria.
Baillon L; PTC Therapeutics Switzerland GmbH, Steinhausen, Switzerland.
Gumus G; EURORDIS, Paris, France.
Gross E; EURORDIS, Paris, France.
Stefanov R; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.
Iskrov G; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.
Raycheva R; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.
Kostadinov K; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.
Mitova E; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.
Einhorn M; Genoox, Tel Aviv, Israel.
Einhorn Y; Genoox, Tel Aviv, Israel.
Schepers J; Berlin Institute of Health (at) Charité - Universitätsmedizin Berlin, Berlin, Germany.
Hübner M; Berlin Institute of Health (at) Charité - Universitätsmedizin Berlin, Berlin, Germany.
Alves F; Translational Molecular Imaging, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Clinic of Hematology and Medical Oncology, University Medical Center, Göttingen, Germany.; Institute for Diagnostic and Interventional Radiology, University Medical Center, Göttingen, Germany.
Iskandar R; Swiss Institute for Translational and Entrepreneurial Medicine (sitem-insel), Bern, Switzerland.
Mayer R; SBA Research gGmbH, Wien, Austria.
Renieri A; Medical Genetics, University of Siena, Siena, Italy.
Piperkova A; Bulgarian Association for Personalized Medicine, Sofia, Bulgaria.
Gut I; Centro Nacional de Analisis Genomico, CNAG, Barcelona, Spain.
Beltran S; Centro Nacional de Analisis Genomico, CNAG, Barcelona, Spain.
Matthiesen ME; FindZebra APS, Copenhagen, Denmark.
Poetz M; Department of Strategy and Innovation, Copenhagen Business School, Copenhagen, Denmark.
Hansson M; Uppsala University, Uppsala, Sweden.
Trollmann R; University of Erlangen, Erlangen, Germany.
Agolini E; Bambino Gesu' Children Hospital, IRCCS, Rome, Italy.
Ottombrino S; Bambino Gesu' Children Hospital, IRCCS, Rome, Italy.
Novelli A; Bambino Gesu' Children Hospital, IRCCS, Rome, Italy.
Bertini E; Bambino Gesu' Children Hospital, IRCCS, Rome, Italy.
Selvatici R; Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Farnè M; Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Fortunato F; Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Ferlini A; Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
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Źródło:
PloS one [PLoS One] 2023 Nov 22; Vol. 18 (11), pp. e0293503. Date of Electronic Publication: 2023 Nov 22 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*/methods
Rare Diseases*/diagnosis
Rare Diseases*/epidemiology
Rare Diseases*/genetics
Infant, Newborn ; Humans ; Child ; Artificial Intelligence ; Digital Technology ; Europe
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project.
Autorzy:
Ferlini A; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, 44121, Ferrara, Italy. .
Gross ES; EURORDIS - Rare Diseases Europe, Paris, France.
Garnier N; Pfizer Inc., Collegeville, 19426 PA, USA.
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Corporate Authors:
Screen4Care consortium
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Oct 04; Vol. 18 (1), pp. 310. Date of Electronic Publication: 2023 Oct 04.
Typ publikacji:
Letter
MeSH Terms:
Rare Diseases*/diagnosis
Rare Diseases*/genetics
Neonatal Screening*
Infant, Newborn ; Humans ; Genomic Medicine ; Genetic Testing ; Computational Biology
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Untargeted Metabolomics Identifies Biomarkers for MCADD Neonates in Dried Blood Spots.
Autorzy:
Sebaa R; Department of Medical Laboratories, College of Applied Medical Sciences, University of Shaqra, Al-Dawadmi 17472, Saudi Arabia.
AlMogren M; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, Saudi Arabia.; Department of Biochemistry and Molecular Medicine, College of Medicine, Al Faisal University, Riyadh 11533, Saudi Arabia.
Alseraty W; Department of Nursing, College of Applied Medical Sciences, University of Shaqra, Al-Dawadmi 17472, Saudi Arabia.
Abdel Rahman AM; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, Saudi Arabia.; Department of Biochemistry and Molecular Medicine, College of Medicine, Al Faisal University, Riyadh 11533, Saudi Arabia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jun 02; Vol. 24 (11). Date of Electronic Publication: 2023 Jun 02.
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*/methods
Metabolomics*
Infant, Newborn ; Humans ; Reproducibility of Results ; Biomarkers ; Fatty Acids
SCR Disease Name:
Medium chain acyl CoA dehydrogenase deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Parental Attitudes and Ideas Regarding Newborn Screening for Familial Hypercholesterolemia.
Autorzy:
Tobik K; Department of Pediatrics, Division of Genetics and Metabolism, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.
Orland KM; Department of Medicine, Division of Cardiovascular Medicine, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.
Zhang X; Department of Pediatrics, Division of Pediatric Cardiology, School of Medicine and Public Health, University of Wisconsin, CSC H6/516B MC 4108, Madison, WI, 53792, USA.
Garcia K; Genetic Counseling Services, University of Wisconsin Hospital and Clinics, Madison, WI, USA.
Peterson AL; Department of Pediatrics, Division of Pediatric Cardiology, School of Medicine and Public Health, University of Wisconsin, CSC H6/516B MC 4108, Madison, WI, 53792, USA. .
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Źródło:
Maternal and child health journal [Matern Child Health J] 2023 Jun; Vol. 27 (6), pp. 978-983. Date of Electronic Publication: 2023 Mar 25.
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*
Hyperlipoproteinemia Type II*/diagnosis
Hyperlipoproteinemia Type II*/genetics
Child ; Humans ; Infant, Newborn ; Genetic Testing ; Mass Screening/methods ; Parents ; Attitude
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers.
Autorzy:
Guo F; Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, No.16 Ding Xiang Road, Changzhou, Jiangsu Province, China.
Zhou L; Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, No.16 Ding Xiang Road, Changzhou, Jiangsu Province, China.
Zhang F; Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, No.16 Ding Xiang Road, Changzhou, Jiangsu Province, China.
Yu B; Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, No.16 Ding Xiang Road, Changzhou, Jiangsu Province, China.
Yang Y; Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, No.16 Ding Xiang Road, Changzhou, Jiangsu Province, China. czyyq_.
Liu Z; Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, No.16 Ding Xiang Road, Changzhou, Jiangsu Province, China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Apr 04; Vol. 19 (1), pp. 145. Date of Electronic Publication: 2024 Apr 04.
Typ publikacji:
Journal Article
MeSH Terms:
Tandem Mass Spectrometry*
Amino Acid Metabolism, Inborn Errors*/diagnosis
Infant, Newborn ; Humans ; Retrospective Studies ; Amino Acids ; Neonatal Screening/methods ; Fatty Acids
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Protect newborn screening programs.
Autorzy:
Owens K; Division of Medical Ethics, Department of Population Health, New York University Grossman School of Medicine, New York, NY, USA.
Chapman C; Division of Medical Ethics, Department of Population Health, New York University Grossman School of Medicine, New York, NY, USA.; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.
Caplan A; Division of Medical Ethics, Department of Population Health, New York University Grossman School of Medicine, New York, NY, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2023 Mar 31; Vol. 379 (6639), pp. 1307-1308. Date of Electronic Publication: 2023 Mar 30.
Typ publikacji:
Letter
MeSH Terms:
Neonatal Screening*
Confidentiality*/legislation & jurisprudence
Law Enforcement*
Humans ; Infant, Newborn ; United States ; Trust ; Privacy
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Psychological and Ethical Challenges of Introducing Whole Genome Sequencing into Routine Newborn Screening: Lessons Learned from Existing Newborn Screening.
Autorzy:
Ulph F; Division of Psychology & Mental Health, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Bennett R; Centre for Social Ethics and Policy, Department of Law, School of Social Sciences, Faculty of Humanities, University of Manchester, Manchester, UK.
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Źródło:
The New bioethics : a multidisciplinary journal of biotechnology and the body [New Bioeth] 2023 Mar; Vol. 29 (1), pp. 52-74. Date of Electronic Publication: 2022 Oct 01.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Neonatal Screening*/psychology
Informed Consent*
Infant, Newborn ; Humans ; Whole Genome Sequencing ; Communication
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
SAV-Pred: A Freely Available Web Application for the Prediction of Pathogenic Amino Acid Substitutions for Monogenic Hereditary Diseases Studied in Newborn Screening.
Autorzy:
Zadorozhny AD; Department of Bioinformatics, Pirogov Russian National Research Medical University, 117997 Moscow, Russia.
Rudik AV; Department of Bioinformatics, Institute of Biomedical Chemistry, 119121 Moscow, Russia.
Filimonov DA; Department of Bioinformatics, Institute of Biomedical Chemistry, 119121 Moscow, Russia.
Lagunin AA; Department of Bioinformatics, Pirogov Russian National Research Medical University, 117997 Moscow, Russia.; Department of Bioinformatics, Institute of Biomedical Chemistry, 119121 Moscow, Russia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jan 27; Vol. 24 (3). Date of Electronic Publication: 2023 Jan 27.
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*
Software*
Infant, Newborn ; Child ; Humans ; Amino Acid Substitution ; Mutation, Missense ; Computational Biology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Comparison of Tandem Mass Spectrometry and the Fluorometric Method-Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria.
Autorzy:
Perko D; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, UMC Ljubljana, 1000 Ljubljana, Slovenia.
Groselj U; Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, 1000 Ljubljana, Slovenia.
Cuk V; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, UMC Ljubljana, 1000 Ljubljana, Slovenia.
Iztok Remec Z; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, UMC Ljubljana, 1000 Ljubljana, Slovenia.
Zerjav Tansek M; Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
Drole Torkar A; Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, 1000 Ljubljana, Slovenia.
Krhin B; Department of Nuclear Medicine, UMC Ljubljana, 1000 Ljubljana, Slovenia.
Bicek A; Department of Nuclear Medicine, UMC Ljubljana, 1000 Ljubljana, Slovenia.
Oblak A; Department of Nuclear Medicine, UMC Ljubljana, 1000 Ljubljana, Slovenia.
Battelino T; Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
Repic Lampret B; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, UMC Ljubljana, 1000 Ljubljana, Slovenia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jan 27; Vol. 24 (3). Date of Electronic Publication: 2023 Jan 27.
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*/methods
Phenylketonurias*/diagnosis
Infant, Newborn ; Humans ; Tandem Mass Spectrometry/methods ; Phenylalanine/analysis ; Fluorometry
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cost-effectiveness analysis on implementing newborn hearing screening programmes in a low- to middle-income country.
Autorzy:
Pitathawatchai P; Department of Otolaryngology Head & Neck Surgery, Faculty of Medicine, Prince of Songkla University, Hat Yai, Thailand.
Chaichulee S; Department of Biomedical Sciences and Biomedical Engineering, Faculty of Medicine, Institute of Biomedical Engineering, Prince of Songkla University, Hat Yai, Thailand.
Wannaro W; Department of Otolaryngology Head & Neck Surgery, Faculty of Medicine, Prince of Songkla University, Hat Yai, Thailand.
Pongprawat P; Department of Otolaryngology Head & Neck Surgery, Faculty of Medicine, Prince of Songkla University, Hat Yai, Thailand.
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Źródło:
International journal of audiology [Int J Audiol] 2023 Jan; Vol. 62 (1), pp. 79-88. Date of Electronic Publication: 2022 Jan 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cost-Effectiveness Analysis*
Neonatal Screening*/methods
Infant, Newborn ; Humans ; Evoked Potentials, Auditory, Brain Stem/physiology ; Otoacoustic Emissions, Spontaneous ; Probability ; Cost-Benefit Analysis ; Hearing Tests/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Views of Syrian Mothers in Ankara on Infant Hearing Loss: Cross-sectional Survey.
Autorzy:
Hussein D; Faculty of Health Sciences, Department of Audiology, Hacettepe University, Ankara, Turkey. diala_.
D'Alessandro HD; Faculty of Health Sciences, Department of Audiology, Hacettepe University, Ankara, Turkey.
Batuk MÖ; Faculty of Health Sciences, Department of Audiology, Hacettepe University, Ankara, Turkey.
Ekhwan A; Faculty of Health Sciences, Department of Audiology, Hacettepe University, Ankara, Turkey.
Sennaroğlu G; Faculty of Health Sciences, Department of Audiology, Hacettepe University, Ankara, Turkey.
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Źródło:
Maternal and child health journal [Matern Child Health J] 2022 Nov; Vol. 26 (11), pp. 2247-2253. Date of Electronic Publication: 2022 Sep 05.
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*/methods
Hearing Loss*/diagnosis
Hearing Loss*/etiology
Infant ; Infant, Newborn ; Female ; Humans ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Cross-Sectional Studies ; Syria ; Health Knowledge, Attitudes, Practice
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey.
Autorzy:
Schwantje M; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Lundlaan 6, 3584 EA, Utrecht, The Netherlands.
Grünert SC; Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, University Medical Centre, Mathildenstraße 1, 79106, Freiburg, Germany.
Fuchs SA; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Lundlaan 6, 3584 EA, Utrecht, The Netherlands. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jan 20; Vol. 19 (1), pp. 21. Date of Electronic Publication: 2024 Jan 20.
Typ publikacji:
Journal Article
MeSH Terms:
Blood Glucose Self-Monitoring*
Lipid Metabolism, Inborn Errors*/genetics
Infant, Newborn ; Humans ; Blood Glucose ; Neonatal Screening/methods ; Fatty Acids/metabolism ; Surveys and Questionnaires
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Evaluation of critical congenital heart disease from 2018 to 2020 in Turkey: a retrospective cohort study.
Autorzy:
Çaylan N; Child and Adolescent Health Department, Ministry of Health, General Directorate of Public Health, Ankara, Turkey.; Department of Social Pediatrics, Hacettepe University Institute of Child Health, Ankara, Turkey.
Yalçın SS; Department of Social Pediatrics, Hacettepe University Institute of Child Health, Ankara, Turkey. .
Tezel B; Child and Adolescent Health Department, Ministry of Health, General Directorate of Public Health, Ankara, Turkey.
Üner O; Child and Adolescent Health Department, Ministry of Health, General Directorate of Public Health, Ankara, Turkey.
Aydin Ş; Child and Adolescent Health Department, Ministry of Health, General Directorate of Public Health, Ankara, Turkey.
Kara F; Department of Public Health, Selçuk University Faculty of Medicine, Konya, Turkey.
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2023 Dec 16; Vol. 23 (1), pp. 871. Date of Electronic Publication: 2023 Dec 16.
Typ publikacji:
Journal Article
MeSH Terms:
Heart Defects, Congenital*/epidemiology
Heart Defects, Congenital*/diagnosis
Premature Birth*
Infant ; Pregnancy ; Humans ; Infant, Newborn ; Male ; Female ; Retrospective Studies ; Turkey/epidemiology ; Neonatal Screening
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
New challenges in management of phenylketonuria in pregnancy: a case report.
Autorzy:
Ugalde-Abiega B; Unidad de Enfermedades Metabólicas, Hospital Universitario Ramón y Cajal, IRYCIS, Crta de Colmenar Viejo, km 9,100, 28034, Madrid, Spain. .
Stanescu S; Unidad de Enfermedades Metabólicas, Hospital Universitario Ramón y Cajal, IRYCIS, Crta de Colmenar Viejo, km 9,100, 28034, Madrid, Spain.
Belanger A; Unidad de Enfermedades Metabólicas, Hospital Universitario Ramón y Cajal, IRYCIS, Crta de Colmenar Viejo, km 9,100, 28034, Madrid, Spain.
Martinez-Pardo M; Unidad de Enfermedades Metabólicas, Hospital Universitario Ramón y Cajal, IRYCIS, Crta de Colmenar Viejo, km 9,100, 28034, Madrid, Spain.
Arrieta F; Unidad de Enfermedades Metabólicas, Hospital Universitario Ramón y Cajal, IRYCIS, Crta de Colmenar Viejo, km 9,100, 28034, Madrid, Spain.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2023 Nov 09; Vol. 17 (1), pp. 465. Date of Electronic Publication: 2023 Nov 09.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Phenylketonurias*/diagnosis
Pregnancy ; Infant, Newborn ; Humans ; Female ; Adult ; Neonatal Screening/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
SMART (SMartphone-Assisted frugal Retinopathy of premaTurity screening).
Autorzy:
Chandrakanth P; Departments of Vitreoretinal Services, Aravind Eye Hospital, Coimbatore, India.
Maitra P; Department of Vitreoretinal Services, Aravind Eye Hospital, Chennai, India.
Sivakumar P; Biostatistician, Aravind Eye Hospital, Coimbatore, India.
Shah PK; Department of Pediatric Retina and Ocular Oncology, Aravind Eye Hospital, Coimbatore, India.
Narendran V; Departments of Vitreoretinal Services, Aravind Eye Hospital, Coimbatore, India.
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Źródło:
Indian journal of ophthalmology [Indian J Ophthalmol] 2023 Nov; Vol. 71 (11), pp. 3571-3572.
Typ publikacji:
Letter
MeSH Terms:
Retinopathy of Prematurity*/diagnosis
Infant, Newborn ; Humans ; Smartphone ; Infant, Premature ; Gestational Age ; Neonatal Screening
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Usefulness of Children's Hospital of Philadelphia ROP (CHOP ROP) model in the prediction of type 1 ROP.
Autorzy:
Jain B; Department of Ophthalmology, Guru Gobind Singh Medical College, Faridkot, Punjab, India.
Sethi NK; Department of Ophthalmology, Guru Gobind Singh Medical College, Faridkot, Punjab, India.
Sethi A; Department of Pediatrics, Guru Gobind Singh Medical College, Faridkot, Punjab, India.
Arora R; Department of Ophthalmology, Guru Gobind Singh Medical College, Faridkot, Punjab, India.
Gupta T; Department of Ophthalmology, Guru Gobind Singh Medical College, Faridkot, Punjab, India.
Kaur H; Department of Ophthalmology, Guru Gobind Singh Medical College, Faridkot, Punjab, India.
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Źródło:
Indian journal of ophthalmology [Indian J Ophthalmol] 2023 Nov; Vol. 71 (11), pp. 3473-3477.
Typ publikacji:
Observational Study; Journal Article
MeSH Terms:
Retinopathy of Prematurity*/diagnosis
Retinopathy of Prematurity*/epidemiology
Humans ; Infant ; Infant, Newborn ; Birth Weight ; Gestational Age ; Hospitals ; Infant, Premature ; Neonatal Screening ; Retrospective Studies ; Risk Factors ; Weight Gain
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
The impact after 20 years of an early detection program for severe retinopathy of prematurity in a Latin American city.
Autorzy:
Zuluaga-Botero C; Research Group Visión and Ocular Health Research Group/Vision y Salud Ocular, VISOC, Service of Ophthalmology, Universidad del Valle, Hospital Universitario del Valle; Department of Ophthalmology, Clínica Imbanaco Grupo QuirónSalud; Instituto Para Niños Ciegos y Sordos del Valle del Cauca, Cali, Colombia.
Cantor E; Department of Clinical Epidemiology and Biostatistics, Pontificia Universidad Javeriana, Bogotá, Colombia.
Bonilla F; Research Group Visión and Ocular Health Research Group/Vision y Salud Ocular, VISOC, Service of Ophthalmology, Universidad del Valle, Hospital Universitario del Valle; Fundación Somos Ciencia al Servicio de la Comunidad, Fundación SCISCO/Science to Serve the Community Foundation, SCISCO Foundation, Cali, Colombia; Department of Ophthalmology, Institute for Clinical Research Education (ICRE), University of Pittsburgh, Pittsburgh, PA, United States.
Robayo-Velasquez JF; Research Group Visión and Ocular Health Research Group/Vision y Salud Ocular, VISOC, Service of Ophthalmology, Universidad del Valle, Hospital Universitario del Valle, Cali, Colombia.
Martínez-Blanco AM; Research Group Visión and Ocular Health Research Group/Vision y Salud Ocular, VISOC, Service of Ophthalmology, Universidad del Valle, Hospital Universitario del Valle; Department of Ophthalmology, Clínica Imbanaco Grupo QuirónSalud, Cali, Colombia.
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Źródło:
Indian journal of ophthalmology [Indian J Ophthalmol] 2023 Nov; Vol. 71 (11), pp. 3494-3500.
Typ publikacji:
Journal Article
MeSH Terms:
Infant, Premature*
Retinopathy of Prematurity*/diagnosis
Retinopathy of Prematurity*/epidemiology
Infant ; Infant, Newborn ; Humans ; Retrospective Studies ; Latin America ; Neonatal Screening ; Birth Weight ; Gestational Age ; Risk Factors ; Incidence
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Potential of point of care tests for newborn screening for sickle cell disease: Evaluation of HemotypeSC™ and sickle SCAN® in Tanzania.
Autorzy:
Christopher H; Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es salaam, Tanzania.
Josephat E; Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es salaam, Tanzania.
Kaywanga F; Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es salaam, Tanzania.
Saul S; Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es salaam, Tanzania.
Mshana I; Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es salaam, Tanzania.
Kunambi P; Department of Clinical Pharmacology, Muhimbili University of Health and Allied Sciences, Dar es salaam, Tanzania.
Nasser A; Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es salaam, Tanzania.
Chamba C; Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es salaam, Tanzania.
Makani J; Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es salaam, Tanzania.
Nkya S; Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es salaam, Tanzania.; Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es salaam, Tanzania.; Tanzania Human Genetics Organization, Dar es salaam, Tanzania.
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Źródło:
International journal of laboratory hematology [Int J Lab Hematol] 2022 Oct; Vol. 44 (5), pp. 959-965. Date of Electronic Publication: 2022 Jul 01.
Typ publikacji:
Journal Article
MeSH Terms:
Anemia, Sickle Cell*/diagnosis
Anemia, Sickle Cell*/epidemiology
Neonatal Screening*/methods
Humans ; Infant, Newborn ; Point-of-Care Testing ; Sensitivity and Specificity ; Tanzania/epidemiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Current attitudes and preconceptions on newborn genetic screening in the Chinese reproductive-aged population.
Autorzy:
Wang X; Genetic Medicine Center, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, 123 Tianfei Lane, Mochou Road, Qinhuai District, Nanjing, 210004, Jiangsu Province, China.
Guan XW; Genetic Medicine Center, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, 123 Tianfei Lane, Mochou Road, Qinhuai District, Nanjing, 210004, Jiangsu Province, China.
Wang YY; Genetic Medicine Center, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, 123 Tianfei Lane, Mochou Road, Qinhuai District, Nanjing, 210004, Jiangsu Province, China.
Zhang ZL; Genetic Medicine Center, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, 123 Tianfei Lane, Mochou Road, Qinhuai District, Nanjing, 210004, Jiangsu Province, China.
Li YH; Genetic Medicine Center, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, 123 Tianfei Lane, Mochou Road, Qinhuai District, Nanjing, 210004, Jiangsu Province, China.
Yang PY; Genetic Medicine Center, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, 123 Tianfei Lane, Mochou Road, Qinhuai District, Nanjing, 210004, Jiangsu Province, China.
Sun Y; Genetic Medicine Center, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, 123 Tianfei Lane, Mochou Road, Qinhuai District, Nanjing, 210004, Jiangsu Province, China. .
Jiang T; Genetic Medicine Center, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, 123 Tianfei Lane, Mochou Road, Qinhuai District, Nanjing, 210004, Jiangsu Province, China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Aug 26; Vol. 17 (1), pp. 322. Date of Electronic Publication: 2022 Aug 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Neonatal Screening*
Patient Acceptance of Health Care*
Adult ; Child ; China ; Female ; Genetic Testing ; Humans ; Infant, Newborn ; Male ; Pregnancy ; Surveys and Questionnaires
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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