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Tytuł:
High-resolution melt curve analysis: An approach for variant detection in the TPO gene of congenital hypothyroid patients in Bangladesh.
Autorzy:
Begum MN; Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka, Bangladesh.; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.; Infectious Diseases Division, Virology Laboratory, International Centre for Diarrhoeal Disease Research, Bangladesh, Mohakhali, Dhaka, Bangladesh.
Mahtarin R; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.
Islam MT; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.
Antora NJ; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.
Sarker SK; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.
Sultana N; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.
Sajib AA; Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka, Bangladesh.
Islam ABMMK; Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka, Bangladesh.
Banu H; Department of Endocrinology, Bangabandhu Sheikh Mujib Medical University (BSMMU), Shahbag, Dhaka, Bangladesh.
Hasanat MA; Department of Endocrinology, Bangabandhu Sheikh Mujib Medical University (BSMMU), Shahbag, Dhaka, Bangladesh.
Shyamaly KJ; Department of Pediatrics, Bangabandhu Sheikh Mujib Medical University (BSMMU) Shahbag, Dhaka, Bangladesh.
Begum S; Department of Pediatrics, Bangabandhu Sheikh Mujib Medical University (BSMMU) Shahbag, Dhaka, Bangladesh.
Konika TK; Nuclear Medicine and Allied Sciences, Bangabandhu Sheikh Mujib Medical University (BSMMU), Shahbag, Dhaka, Bangladesh.
Haque S; Nuclear Medicine and Allied Sciences, Bangabandhu Sheikh Mujib Medical University (BSMMU), Shahbag, Dhaka, Bangladesh.
Hasan M; Nuclear Medicine and Allied Sciences, Bangabandhu Sheikh Mujib Medical University (BSMMU), Shahbag, Dhaka, Bangladesh.
Sultana S; Scintigraphy Division, Bangabandhu Sheikh Mujib Medical University (BSMMU) Shahbag, Dhaka, Bangladesh.
Bhuiyan TR; Infectious Diseases Division, Mucosal Immunology and Vaccinology, International Centre for Diarrhoeal Disease Research, Bangladesh, Mohakhali, Dhaka, Bangladesh.
Mannoor K; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.
Qadri F; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.; Infectious Diseases Division, Mucosal Immunology and Vaccinology, International Centre for Diarrhoeal Disease Research, Bangladesh, Mohakhali, Dhaka, Bangladesh.
Akhteruzzaman S; Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka, Bangladesh.
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Źródło:
PloS one [PLoS One] 2024 Apr 10; Vol. 19 (4), pp. e0293570. Date of Electronic Publication: 2024 Apr 10 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Congenital Hypothyroidism*/diagnosis
Congenital Hypothyroidism*/genetics
Humans ; Bangladesh ; Mutation ; DNA ; Real-Time Polymerase Chain Reaction
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of GLIS3 Mutation
Autorzy:
Sarıkaya E; Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey
Kendirci M; Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey
Demir M; Erciyes University Faculty of Medicine, Department of Medical Genetics, Kayseri, Turkey
Dündar M; Erciyes University Faculty of Medicine, Department of Medical Genetics, Kayseri, Turkey
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2023 Nov 22; Vol. 15 (4), pp. 426-430. Date of Electronic Publication: 2022 Apr 12.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Congenital Hypothyroidism*/complications
Congenital Hypothyroidism*/diagnosis
Congenital Hypothyroidism*/genetics
Diabetes Mellitus*/genetics
Infant, Newborn, Diseases*
Glaucoma*/complications
Glaucoma*/genetics
Bone Diseases, Metabolic*
Deafness*/complications
Infant, Newborn ; Male ; Humans ; Transcription Factors/genetics ; DNA-Binding Proteins/genetics ; Trans-Activators/genetics ; Repressor Proteins/genetics ; Syndrome ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Autorzy:
Feng X; Department of Pediatrics, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.
Ping J; Department of Pediatrics, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.
Gao S; Department of Pediatrics, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.
Han D; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.
Song W; Obstetrics Department, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.
Li X; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.
Tao Y; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China. .; Precision Medicine Research Division, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China. .
Wang L; Department of Pediatrics, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China. .
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Źródło:
Scientific reports [Sci Rep] 2024 Jan 20; Vol. 14 (1), pp. 1812. Date of Electronic Publication: 2024 Jan 20.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Alagille Syndrome*/diagnosis
Alagille Syndrome*/genetics
Congenital Hypothyroidism*/genetics
Humans ; Infant ; Male ; China ; Genetic Testing ; Jagged-1 Protein/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Investigation of the impact of nonsynonymous mutations on thyroid peroxidase dimer.
Autorzy:
Begum MN; Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka, Bangladesh.; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.; Virology Laboratory, Infectious Diseases Division, International Centre for Diarrhoeal Disease Research, Bangladesh, Mohakhali, Dhaka, Bangladesh.
Mahtarin R; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.; Department of Biochemistry and Molecular Biology, Shahjalal University of Science and Technology, Sylhet, Bangladesh.
Ahmed S; Division of Computer Aided Drug Design, The Red-Green Research Centre, BICCB, Tejgaon, Dhaka, Bangladesh.
Shahriar I; Division of Computer Aided Drug Design, The Red-Green Research Centre, BICCB, Tejgaon, Dhaka, Bangladesh.
Hossain SR; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.
Mia MW; Department of Biochemistry and Molecular Biology, Shahjalal University of Science and Technology, Sylhet, Bangladesh.
Qadri SS; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.
Qadri F; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.; Mucosal Immunology and Vaccinology, Infectious Diseases Division, International Centre for Diarrhoeal Disease Research, Bangladesh, Mohakhali, Dhaka, Bangladesh.
Mannoor K; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.
Akhteruzzaman S; Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka, Bangladesh.
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Źródło:
PloS one [PLoS One] 2023 Sep 12; Vol. 18 (9), pp. e0291386. Date of Electronic Publication: 2023 Sep 12 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Iodide Peroxidase*/genetics
Congenital Hypothyroidism*/genetics
Humans ; Hydrogen Peroxide ; Ligands ; Molecular Docking Simulation ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Molecular investigation of TSHR gene in Bangladeshi congenital hypothyroid patients.
Autorzy:
Begum MN; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.; Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka, Bangladesh.; Virology Laboratory, Infectious Diseases Division, International Centre for Diarrhoeal Disease Research, Bangladesh, Mohakhali, Dhaka, Bangladesh.
Mahtarin R; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.; Department of Biochemistry and Molecular Biology, Shahjalal University of Science and Technology, Sylhet, Bangladesh.
Islam MT; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.
Ahmed S; Division of Computer Aided Drug Design, The Red-Green Research Centre, BICCB, Tejgaon, Dhaka, Bangladesh.
Konika TK; Nuclear Medicine and Allied Sciences, Bangabandhu Sheikh Mujib Medical University (BSMMU), Shahbag, Dhaka, Bangladesh.
Mannoor K; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.
Akhteruzzaman S; Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka, Bangladesh.
Qadri F; Institute for Developing Science and Health Initiatives (ideSHi), ECB Chattar, Mirpur, Dhaka, Bangladesh.; Mucosal Immunology and Vaccinology, Infectious Diseases Division, International Centre for Diarrhoeal Disease Research, Bangladesh, Mohakhali, Dhaka, Bangladesh.
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Źródło:
PloS one [PLoS One] 2023 Aug 10; Vol. 18 (8), pp. e0282553. Date of Electronic Publication: 2023 Aug 10 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Congenital Hypothyroidism*/genetics
Thyroid Dysgenesis*
Child ; Humans ; Bangladesh ; Molecular Docking Simulation ; Mutation ; Receptors, Thyrotropin/genetics ; Receptors, Thyrotropin/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Neonatal reference intervals for thyroid stimulating hormone and free thyroxine assayed on a Siemens Atellica® IM analyzer: a cross sectional study.
Autorzy:
Omuse G; Department of Pathology, Aga Khan University Hospital Nairobi, Nairobi, Kenya. g_.
Kawalya D; Department of Pathology, Aga Khan University Hospital Nairobi, Nairobi, Kenya.
Mugaine P; Department of Pathology, Aga Khan University Hospital Nairobi, Nairobi, Kenya.
Chege A; Department of Pathology, Aga Khan University Hospital Nairobi, Nairobi, Kenya.
Maina D; Department of Pathology, Aga Khan University Hospital Nairobi, Nairobi, Kenya.
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Źródło:
BMC endocrine disorders [BMC Endocr Disord] 2023 May 19; Vol. 23 (1), pp. 112. Date of Electronic Publication: 2023 May 19.
Typ publikacji:
Journal Article
MeSH Terms:
Thyrotropin*
Congenital Hypothyroidism*/diagnosis
Congenital Hypothyroidism*/epidemiology
Male ; Female ; Infant, Newborn ; Humans ; Thyroxine ; Cross-Sectional Studies ; Reference Values ; Kenya/epidemiology ; Thyroid Function Tests ; Hospitals, University
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Prevalence of Transient Hypothyroidism in Children Diagnosed with Congenital Hypothyroidism between 2000 and 2016.
Autorzy:
Gmür S; Department of Endocrinology & Diabetology, University Children's Hospital Zurich, University of Zurich, CH-8032 Zurich, Switzerland.
Konrad D; Department of Endocrinology & Diabetology, University Children's Hospital Zurich, University of Zurich, CH-8032 Zurich, Switzerland.; Children's Research Center, University Children's Hospital Zurich, University of Zurich, CH-8032 Zurich, Switzerland.
Fingerhut R; Children's Research Center, University Children's Hospital Zurich, University of Zurich, CH-8032 Zurich, Switzerland.; Swiss Newborn Screening Laboratory, University Children's Hospital, CH-8032 Zurich, Switzerland.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Feb 01; Vol. 24 (3). Date of Electronic Publication: 2023 Feb 01.
Typ publikacji:
Journal Article
MeSH Terms:
Congenital Hypothyroidism*/diagnosis
Congenital Hypothyroidism*/epidemiology
Infant ; Humans ; Infant, Newborn ; Male ; Child ; Female ; Prevalence ; Cohort Studies ; Thyrotropin ; Thyroxine ; Neonatal Screening
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Serum levels of glucose, thyroid stimulating hormone, and free thyroxine in boys diagnosed with attention deficit hyperactivity disorder: a cross-sectional pilot study.
Autorzy:
Lukovac, Tanja (AUTHOR)
Hil, Olivera Aleksić (AUTHOR)
Popović, Milka (AUTHOR)
Savić, Tatjana (AUTHOR)
Pavlović, Aleksandra M. (AUTHOR)
Pavlović, Dragan (AUTHOR)
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Źródło:
BMC Neurology. 2/26/2024, Vol. 24 Issue 1, p1-9. 9p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Etiological, clinical, and laboratory evaluation of congenital hypothyroidism and determination of levothyroxine (LT4) dose at treatment interruption in differentiating permanent vs. transient patients.
Autorzy:
Dündar İ; Department of Pediatric Endocrinology, Faculty of Medicine, İnönü University, Malatya, Turkey.
Büyükavcı MA; Department of Developmental Pediatrics, Faculty of Medicine, İnönü University, Malatya, Turkey.
Çiftçi N; Department of Pediatric Endocrinology, Malatya Training and Research Hospital, Malatya, Turkey.
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Źródło:
Turkish journal of medical sciences [Turk J Med Sci] 2022 Dec; Vol. 52 (6), pp. 1863-1871. Date of Electronic Publication: 2022 Dec 21.
Typ publikacji:
Journal Article
MeSH Terms:
Thyroxine*
Congenital Hypothyroidism*/diagnosis
Congenital Hypothyroidism*/drug therapy
Infant, Newborn ; Child ; Humans ; Female ; Child, Preschool ; Male ; Retrospective Studies ; Thyroid Hormones ; Thyrotropin ; Neonatal Screening/adverse effects
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Novel Missense Variants in PAX8 and NKX2-1 Cause Congenital Hypothyroidism.
Autorzy:
Li M; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha 410078, China.
Li Z; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha 410078, China.
Chen M; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha 410078, China.
Hu Z; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha 410078, China.
Zhou M; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha 410078, China.
Wu L; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha 410078, China.
Zhang C; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha 410078, China.
Liang D; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha 410078, China.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jan 02; Vol. 24 (1). Date of Electronic Publication: 2023 Jan 02.
Typ publikacji:
Journal Article
MeSH Terms:
Congenital Hypothyroidism*/genetics
Humans ; Paired Box Transcription Factors/genetics ; PAX8 Transcription Factor/genetics ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation
Autorzy:
Wankanit S; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Mahachoklertwattana P; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Tim-Aroon T; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Sorapipatcharoen K; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Poomthavorn P; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2022 Dec 01; Vol. 14 (4), pp. 485-489. Date of Electronic Publication: 2021 Jul 30.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Congenital Hypothyroidism*/genetics
Congenital Hypothyroidism*/complications
Puberty, Precocious*/genetics
Puberty, Precocious*/complications
Pseudohypoparathyroidism*/complications
Pseudohypoparathyroidism*/diagnosis
Pseudohypoparathyroidism*/genetics
Pediatric Obesity*/complications
Male ; Child, Preschool ; Humans ; Chromogranins/genetics ; GTP-Binding Protein alpha Subunits, Gs/genetics ; Parathyroid Hormone
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Thyroid Function in 509 Premature Newborns Below 31 Weeks of Gestational Age: Evaluation and Follow-up
Autorzy:
Campos-Martorell A; Autonomous University of Barcelona, Vall d’Hebron University Hospital, Clinic of Pediatric Endocrinology, Barcelona, Spain
Ramon AM; Vall d’Hebron University Hospital, Clinic of Neonatal, Barcelona, Spain
Barros KN; Hospital del Mar, Clinic of Pediatric Endocrinology, Barcelona, Spain
Soria JLM; University of Barcelona, Spain School of Medicine, Neonatal Screening Program of Catalonia, Inborn Errors Metabolism Unit Biochemistry and Molecular Genetics Department Center for Biomedical Diagnosis (CDB) Hospital Clinic, Barcelona, Spain
Galera RML; University of Barcelona, Spain School of Medicine, Neonatal Screening Program of Catalonia, Inborn Errors Metabolism Unit Biochemistry and Molecular Genetics Department Center for Biomedical Diagnosis (CDB) Hospital Clinic, Barcelona, Spain
Fernández DY; Autonomous University of Barcelona, Vall d’Hebron University Hospital, Clinic of Pediatric Endocrinology; Vall d’Hebron Research Institute, Clinic of Paediatric Endocrinology, Barcelona, Spain
León MC; Autonomous University of Barcelona, Vall d’Hebron University Hospital, Clinic of Pediatric Endocrinology; Vall d’Hebron Research Institute, Clinic of Paediatric Endocrinology, Barcelona, Spain
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2022 Dec 01; Vol. 14 (4), pp. 453-462. Date of Electronic Publication: 2022 Jul 21.
Typ publikacji:
Journal Article
MeSH Terms:
Congenital Hypothyroidism*/diagnosis
Infant, Newborn, Diseases*/diagnosis
Thyroid Diseases*/diagnosis
Humans ; Infant, Newborn ; Follow-Up Studies ; Gestational Age ; Neonatal Screening/methods ; Thyrotropin ; Thyroxine ; Infant, Premature
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Congenital hypothyroidism after newborn screening program reorganization in the Apulia region.
Autorzy:
Simonetti S; Clinical Pathology and Neonatal Screening, Azienda Ospedaliera Universitaria Policlinico-Giovanni XXIII, Bari, Italy.
D'Amato G; Neonatal Intensive Care Unit, 'Di Venere' Hospital, Bari, Italy.
Esposito B; Department of Biomedical Sciences and Human Oncology, Pediatric Unit, University of Bari 'Aldo Moro', Bari, Italy.
Chiarito M; Department of Biomedical Sciences and Human Oncology, Pediatric Unit, University of Bari 'Aldo Moro', Bari, Italy.
Dentico D; Neonatal Intensive Care Unit, 'Di Venere' Hospital, Bari, Italy.
Lorè T; Clinical Pathology and Neonatal Screening, Azienda Ospedaliera Universitaria Policlinico-Giovanni XXIII, Bari, Italy.
Cardinali R; Clinical Pathology and Neonatal Screening, Azienda Ospedaliera Universitaria Policlinico-Giovanni XXIII, Bari, Italy.
Russo S; Clinical Pathology and Neonatal Screening, Azienda Ospedaliera Universitaria Policlinico-Giovanni XXIII, Bari, Italy.
Laforgia N; Department of Interdisciplinary Medicine, University of Bari 'Aldo Moro', Bari, Italy.
Faienza MF; Department of Biomedical Sciences and Human Oncology, Pediatric Unit, University of Bari 'Aldo Moro', Bari, Italy. .
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Źródło:
Italian journal of pediatrics [Ital J Pediatr] 2022 Jul 29; Vol. 48 (1), pp. 131. Date of Electronic Publication: 2022 Jul 29.
Typ publikacji:
Journal Article
MeSH Terms:
Congenital Hypothyroidism*/diagnosis
Congenital Hypothyroidism*/epidemiology
Female ; Humans ; Infant, Newborn ; Neonatal Screening ; Pregnancy ; Thyrotropin ; Thyroxine/therapeutic use
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Neuropsychological and physical development of patients diagnosed with congenital hypothyroidism at the San Ignacio University Hospital between 2001 and 2017
Autorzy:
Unigarro MF; Departamento de Pediatría, Hospital Universitario San Ignacio, Bogotá, D.C., Colombia; Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, D.C., Colombia. .
Forero C; Departamento de Pediatría, Hospital Universitario San Ignacio, Bogotá, D.C., Colombia; Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, D.C., Colombia. .
Céspedes C; Departamento de Pediatría, Hospital Universitario San Ignacio, Bogotá, D.C., Colombia; Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, D.C., Colombia. .
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Transliterated Title:
Desarrollo físico y neuropsicológico de pacientes diagnosticados con hipotiroidismo congénito en el Hospital Universitario San Ignacio entre los años 2001 y 2017
Źródło:
Biomedica : revista del Instituto Nacional de Salud [Biomedica] 2022 May 01; Vol. 42 (Sp. 1), pp. 144-153. Date of Electronic Publication: 2022 May 01.
Typ publikacji:
Journal Article; Observational Study
MeSH Terms:
Congenital Hypothyroidism*/complications
Congenital Hypothyroidism*/diagnosis
Congenital Hypothyroidism*/epidemiology
Colombia/epidemiology ; Cross-Sectional Studies ; Hospitals ; Humans ; Retrospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Levothyroxine treatment for congenital hypothyroidism based on thyroid function: a 10-year clinical retrospective study.
Autorzy:
He S; Department of Pediatrics, The First People's Hospital of Yunnan Province, NO. 157, Jin Bi Road, Kunming, 650032, Yunnan, China.
Ma X; Department of Pediatrics, The First People's Hospital of Yunnan Province, NO. 157, Jin Bi Road, Kunming, 650032, Yunnan, China.
Yang J; Department of Pediatrics, The First People's Hospital of Yunnan Province, NO. 157, Jin Bi Road, Kunming, 650032, Yunnan, China.
Li L; Department of Pediatrics, The First People's Hospital of Yunnan Province, NO. 157, Jin Bi Road, Kunming, 650032, Yunnan, China. .
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Źródło:
BMC endocrine disorders [BMC Endocr Disord] 2022 May 28; Vol. 22 (1), pp. 142. Date of Electronic Publication: 2022 May 28.
Typ publikacji:
Journal Article
MeSH Terms:
Congenital Hypothyroidism*/drug therapy
Thyroxine*/therapeutic use
Humans ; Retrospective Studies ; Thyrotropin
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism
Autorzy:
Zhang CR; The Core Laboratory in Medical Center of Clinical Research, Department of Endocrinology, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China
Shi YP; The Core Laboratory in Medical Center of Clinical Research, Department of Endocrinology, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China
Zhang CX; The Core Laboratory in Medical Center of Clinical Research, Department of Endocrinology, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China
Sun F; The Core Laboratory in Medical Center of Clinical Research, Department of Endocrinology, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China
Zhu WJ; The Core Laboratory in Medical Center of Clinical Research, Department of Endocrinology, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China
Zhang RJ; The Core Laboratory in Medical Center of Clinical Research, Department of Endocrinology, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China
Fang Y; The Core Laboratory in Medical Center of Clinical Research, Department of Endocrinology, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China
Zhang QY; The Core Laboratory in Medical Center of Clinical Research, Department of Endocrinology, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China
Yan CY; The Core Laboratory in Medical Center of Clinical Research, Department of Endocrinology, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China
Ying YX; The Core Laboratory in Medical Center of Clinical Research, Department of Endocrinology, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China
Zhao SX; The Core Laboratory in Medical Center of Clinical Research, Department of Endocrinology, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China
Song HD; The Core Laboratory in Medical Center of Clinical Research, Department of Endocrinology, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2022 Mar 03; Vol. 14 (1), pp. 46-55. Date of Electronic Publication: 2021 Sep 21.
Typ publikacji:
Journal Article
MeSH Terms:
Congenital Hypothyroidism*/diagnosis
Congenital Hypothyroidism*/genetics
Hearing Loss, Sensorineural*/genetics
Sulfate Transporters*/genetics
Asian People/genetics ; China ; Heterozygote ; Humans ; Mutation
Czasopismo naukowe
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Wyświetlanie 1-20 z 5284

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