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Tytuł:
Branched-Chain Amino Acid Assembly into Amyloid-like Fibrils Provides a New Paradigm for Maple Syrup Urine Disease Pathology.
Autorzy:
Kreiser T; The Shmunis School of Biomedicine and Cancer Research, Tel Aviv University, Tel Aviv 6997801, Israel.
Sogolovsky-Bard I; The Shmunis School of Biomedicine and Cancer Research, Tel Aviv University, Tel Aviv 6997801, Israel.; Department of Cell and Developmental Biology, Sackler School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
Zaguri D; The Shmunis School of Biomedicine and Cancer Research, Tel Aviv University, Tel Aviv 6997801, Israel.
Shaham-Niv S; The Shmunis School of Biomedicine and Cancer Research, Tel Aviv University, Tel Aviv 6997801, Israel.
Laor Bar-Yosef D; The Shmunis School of Biomedicine and Cancer Research, Tel Aviv University, Tel Aviv 6997801, Israel.
Gazit E; The Shmunis School of Biomedicine and Cancer Research, Tel Aviv University, Tel Aviv 6997801, Israel.; Blavatnik Center for Drug Discovery, Tel Aviv University, Tel Aviv 6997801, Israel.; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv 6997801, Israel.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Nov 06; Vol. 24 (21). Date of Electronic Publication: 2023 Nov 06.
Typ publikacji:
Journal Article
MeSH Terms:
Maple Syrup Urine Disease*/metabolism
Metabolic Diseases*
Humans ; Amino Acids, Branched-Chain/metabolism ; Amyloid/genetics ; Mutation ; Amyloidogenic Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination
Autorzy:
Al Shidhani A; Sultan Qaboos University Hospital, Department of Child Health, Muscat, Oman
Al Hinai A; Sultan Qaboos University Hospital, Department of Genetics, Muscat, Oman
Al Thihli K; Sultan Qaboos University Hospital, Department of Genetics, Muscat, Oman
Al Mandhari H; Sultan Qaboos University Hospital, Department of Child Health, Muscat, Oman
Al Yaarubi S; Sultan Qaboos University Hospital, Department of Child Health, Muscat, Oman
Ullah I; Sultan Qaboos University Hospital, Department of Child Health, Muscat, Oman
Al-Hashmi N; Royal Hospital, Department of Child Health, Muscat, Oman
Al Murshedi F; Sultan Qaboos University Hospital, Department of Genetics, Muscat, Oman
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2023 Aug 23; Vol. 15 (3), pp. 302-306. Date of Electronic Publication: 2021 Nov 05.
Typ publikacji:
Journal Article
MeSH Terms:
Maple Syrup Urine Disease*/diagnosis
Maple Syrup Urine Disease*/therapy
Congenital Hyperinsulinism*/diagnosis
Male ; Infant, Newborn ; Humans ; Infant ; Child, Preschool ; Amino Acids, Branched-Chain/genetics ; Amino Acids, Branched-Chain/metabolism ; Leucine/genetics ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene
Autorzy:
Semenova N; Research Centre for Medical Genetics, Moscow 115522, Russia.
Marakhonov A; Research Centre for Medical Genetics, Moscow 115522, Russia.
Ampleeva M; Independent Clinical Bioinformatics Laboratory, Moscow 123181, Russia.; Master's Programme 'Data Analysis in Biology and Medicine', National Research University 'Higher School of Economics', Moscow 101000, Russia.
Kurkina M; Research Centre for Medical Genetics, Moscow 115522, Russia.
Baydakova G; Research Centre for Medical Genetics, Moscow 115522, Russia.
Skoblov M; Research Centre for Medical Genetics, Moscow 115522, Russia.
Taran N; Federal Research Centre of Nutrition and Biotechnology, Moscow 115446, Russia.
Babak O; Perinatal Center at City Clinical Hospital No. 24, Moscow 127287, Russia.
Shchukina E; Perinatal Center at City Clinical Hospital No. 24, Moscow 127287, Russia.
Strokova T; Federal Research Centre of Nutrition and Biotechnology, Moscow 115446, Russia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Nov 30; Vol. 23 (23). Date of Electronic Publication: 2022 Nov 30.
Typ publikacji:
Case Reports
MeSH Terms:
Hyperammonemia*/genetics
Maple Syrup Urine Disease*
Neurotoxicity Syndromes*
Male ; Infant, Newborn ; Humans ; Child, Preschool ; Homozygote ; Mutation ; White People
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Autorzy:
Soriano-Sexto A; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Departamento de Biología Molecular, Universidad Autónoma de Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IdiPAZ, 28049 Madrid, Spain.
Gallego D; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Departamento de Biología Molecular, Universidad Autónoma de Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IdiPAZ, 28049 Madrid, Spain.
Leal F; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Departamento de Biología Molecular, Universidad Autónoma de Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IdiPAZ, 28049 Madrid, Spain.
Castejón-Fernández N; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Departamento de Biología Molecular, Universidad Autónoma de Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IdiPAZ, 28049 Madrid, Spain.
Navarrete R; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Departamento de Biología Molecular, Universidad Autónoma de Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IdiPAZ, 28049 Madrid, Spain.
Alcaide P; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Departamento de Biología Molecular, Universidad Autónoma de Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IdiPAZ, 28049 Madrid, Spain.
Couce ML; Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, University of Santiago de Compostela, CIBERER, MetabERN, 15706 Santiago de Compostela, Spain.
Martín-Hernández E; Unidad de Enfermedades Mitocondriales-Metabólicas Hereditarias, Servicio de Pediatría, Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) para Enfermedades Metabólicas Hereditarias, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.
Quijada-Fraile P; Unidad de Enfermedades Mitocondriales-Metabólicas Hereditarias, Servicio de Pediatría, Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) para Enfermedades Metabólicas Hereditarias, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.
Peña-Quintana L; Pediatric Gastroenterology, Hepatology and Nutrition Unit, Complejo Hospitalario Universitario Insular Materno-Infantil (CHUIMI), Universidad de Las Palmas de Gran Canaria, Asociación Canaria para La Investigación Pediátrica, Centro de Investigación Biomédica en Red de la Fisiopatología de la Obesidad y la Nutrición (CIBEROBN) ISCIII, 35016 Gran Canaria, Spain.
Yahyaoui R; Laboratory of Metabolic Disorders and Newborn Screening, Institute of Biomedical Research in Málaga (IBIMA-Plafatorma BIONAND), IBIMA-RARE, Málaga Regional University Hospital, 29010 Málaga, Spain.
Correcher P; Nutrition and Metabolophaties Unit, Hospital Universitario La Fe, 46026 Valencia, Spain.
Ugarte M; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Departamento de Biología Molecular, Universidad Autónoma de Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IdiPAZ, 28049 Madrid, Spain.
Rodríguez-Pombo P; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Departamento de Biología Molecular, Universidad Autónoma de Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IdiPAZ, 28049 Madrid, Spain.
Pérez B; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Departamento de Biología Molecular, Universidad Autónoma de Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IdiPAZ, 28049 Madrid, Spain.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Oct 25; Vol. 23 (21). Date of Electronic Publication: 2022 Oct 25.
Typ publikacji:
Journal Article
MeSH Terms:
Maple Syrup Urine Disease*
Metabolism, Inborn Errors*/diagnosis
Metabolism, Inborn Errors*/genetics
Infant, Newborn ; Humans ; Exome ; Exome Sequencing ; Neonatal Screening
Czasopismo naukowe
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Tytuł:
Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders.
Autorzy:
Eminoğlu FT; Department of Pediatric Metabolism, Faculty of Medicine, Ankara University, Ankara, Turkey. .
Öncül Ü; Department of Pediatric Metabolism, Faculty of Medicine, Ankara University, Ankara, Turkey.
Kahveci F; Department of Pediatric Intensive Care Unit, Faculty of Medicine, Ankara University, Ankara, Turkey.
Okulu E; Department of Neonatology, Faculty of Medicine, Ankara University, Ankara, Turkey.
Kraja E; Department of Neonatology, Faculty of Medicine, Ankara University, Ankara, Turkey.
Köse E; Department of Pediatric Metabolism, Faculty of Medicine, Ankara University, Ankara, Turkey.
Kendirli T; Department of Pediatric Intensive Care Unit, Faculty of Medicine, Ankara University, Ankara, Turkey.
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Źródło:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2022 Jun; Vol. 37 (6), pp. 1387-1397. Date of Electronic Publication: 2021 Oct 25.
Typ publikacji:
Journal Article
MeSH Terms:
Continuous Renal Replacement Therapy*
Hemodiafiltration*/adverse effects
Hypotension*/etiology
Maple Syrup Urine Disease*/complications
Maple Syrup Urine Disease*/therapy
Metabolic Diseases*/complications
Metabolism, Inborn Errors*/complications
Aged ; Ammonia ; Child ; Humans ; Infant ; Infant, Newborn ; Leucine ; Renal Dialysis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study.
Autorzy:
Alili JM; Pôle EPHP, AGEPS, AP-HP, Paris, France. .; Service Des Maladies Métaboliques, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015, Paris, France. .
Berleur MP; Pôle EPHP, AGEPS, AP-HP, Paris, France.
Husson MC; Pôle EPHP, AGEPS, AP-HP, Paris, France.
Mention K; Metabolic Disease Reference Centre, Lille University Hospital, Lille, France.; G2M Network, MetabERN, Paris, France.
Schiff M; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France.
Arnoux JB; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France.
Brassier A; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France.
Guemman AS; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France.
Grisel C; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France.
Dubois S; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France.
Abi-Wardé MT; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France.
Broissand C; Deparment of Pharmacy, Necker's Children University Hospital, AP-HP, Paris, France.
Servais A; Department of Nephrology, Necker's Children University Hospital, AP-HP, Paris, France.
Dao M; Department of Nephrology, Necker's Children University Hospital, AP-HP, Paris, France.
de Lonlay P; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 May 16; Vol. 17 (1), pp. 202. Date of Electronic Publication: 2022 May 16.
Typ publikacji:
Journal Article; Multicenter Study; Observational Study
MeSH Terms:
Maple Syrup Urine Disease*/drug therapy
Adult ; Amino Acids, Branched-Chain/therapeutic use ; Child ; Female ; Humans ; Infusions, Intravenous ; Leucine ; Male ; Prospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The clinico-radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome.
Autorzy:
Mohamed MM; Pediatric Neurology Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt.
Bakheet MA; Pediatric Cardiology Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt.
Magdy RM; Metabolic and Genetic Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt.
El-Abd HS; Department of Medical Genetics, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Alam-Eldeen MH; Department of Radiology, Faculty of Medicine, Sohag University, Sohag, Egypt.
Abo-Haded HM; Pediatric Cardiology Unit, Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Oct; Vol. 9 (10), pp. e1790. Date of Electronic Publication: 2021 Aug 25.
Typ publikacji:
Journal Article
MeSH Terms:
Phenotype*
Maple Syrup Urine Disease/*diagnosis
Maple Syrup Urine Disease/*genetics
Amino Acids/blood ; Biomarkers ; Child, Preschool ; Early Diagnosis ; Egypt ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Maple Syrup Urine Disease/blood ; Neuroimaging ; Radiography ; Symptom Assessment ; Tandem Mass Spectrometry
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Unusual Case of Acute Decompensated Maple Syrup Urine Disease in the Emergency Department.
Autorzy:
Tobin MR; Department of Emergency Medicine, Resident Physician, Madigan Army Medical Center, Joint Base Lewis-McChord, WA, 98431, USA.
Grisham J; Dept. of Emergency Medicine, Staff Physician, Madigan Army Medical Center, Joint Base Lewis-McChord, WA, USA.
Brigg A; Dept. of Emergency Medicine, Staff Physician, Madigan Army Medical Center, Joint Base Lewis-McChord, WA, USA.
Kinder B; Dept. of Emergency Medicine, Staff Physician, Madigan Army Medical Center, Joint Base Lewis-McChord, WA, USA.
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Źródło:
Military medicine [Mil Med] 2021 Aug 28; Vol. 186 (9-10), pp. e1037-e1039.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Brain Diseases*
Maple Syrup Urine Disease*/complications
Maple Syrup Urine Disease*/diagnosis
Mental Disorders*
Acute Disease ; Emergency Service, Hospital ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Molecular basis of various forms of maple syrup urine disease in Chilean patients.
Autorzy:
Campanholi DRR; Pediatrics Department, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
Margutti AVB; Pediatrics Department, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
Silva WA Jr; Genetics Department, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; Ribeirão Preto Regional Center of Hematology, National Institute of Science and Technology in Cell Therapy and Cell Therapy Center, Ribeirão Preto, Brazil.; Clinical Hospital Genomic Center, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
Garcia DF; Genetics Department, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; Ribeirão Preto Regional Center of Hematology, National Institute of Science and Technology in Cell Therapy and Cell Therapy Center, Ribeirão Preto, Brazil.
Molfetta GA; Ribeirão Preto Regional Center of Hematology, National Institute of Science and Technology in Cell Therapy and Cell Therapy Center, Ribeirão Preto, Brazil.; Clinical Hospital Genomic Center, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
Marques AA; Ribeirão Preto Regional Center of Hematology, National Institute of Science and Technology in Cell Therapy and Cell Therapy Center, Ribeirão Preto, Brazil.
Schwartz IVD; Genetic Department, Porto Alegre Clinical Hospital, Porto Alegre, Brazil.
Cornejo V; Nutrition and Food Technology Institute, Chile University, Santiago, Chile.
Hamilton V; Nutrition and Food Technology Institute, Chile University, Santiago, Chile.
Castro G; Nutrition and Food Technology Institute, Chile University, Santiago, Chile.
Sperb-Ludwig F; Genetic Department, Rio Grande do Sul Federal University, Porto Alegre, Brazil.
Borges ES; School of Medicine, Federal University of São Carlos, São Carlos, Brazil.
Camelo JS Jr; Pediatrics Department, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 May; Vol. 9 (5), pp. e1616. Date of Electronic Publication: 2021 May 06.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Maple Syrup Urine Disease/*genetics
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)/genetics ; Acyltransferases/genetics ; Child ; Chile ; Dihydrolipoamide Dehydrogenase/genetics ; Genetic Testing/statistics & numerical data ; Humans ; Maple Syrup Urine Disease/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.
Autorzy:
Fang X; Obstetrics and Gynecology Department, Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, People's Republic of China.
Zhu X; Obstetrics and Gynecology Department, Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, People's Republic of China.
Feng Y; Obstetrics and Gynecology Department, Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, People's Republic of China.
Bai Y; Obstetrics and Gynecology Department, Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, People's Republic of China.
Zhao X; Obstetrics and Gynecology Department, Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, People's Republic of China.
Liu N; Obstetrics and Gynecology Department, Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, People's Republic of China. .
Kong X; Obstetrics and Gynecology Department, Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, People's Republic of China. .
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Źródło:
Scientific reports [Sci Rep] 2021 Sep 23; Vol. 11 (1), pp. 18939. Date of Electronic Publication: 2021 Sep 23.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)/*genetics
Maple Syrup Urine Disease/*genetics
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)/metabolism ; Amino Acids, Branched-Chain/metabolism ; Asian People/genetics ; Computer Simulation ; DNA Mutational Analysis ; Female ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Infant, Newborn ; Male ; Maple Syrup Urine Disease/diagnosis ; Models, Molecular ; Mutation, Missense ; Pedigree ; Protein Structure, Tertiary/genetics ; Retrospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders.
Autorzy:
Xu J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Jakher Y; Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104, USA.
Ahrens-Nicklas RC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2020 Oct 11; Vol. 21 (20). Date of Electronic Publication: 2020 Oct 11.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Amino Acids, Branched-Chain/*metabolism
Brain/*metabolism
Maple Syrup Urine Disease/*etiology
Maple Syrup Urine Disease/*metabolism
Aspartic Acid/metabolism ; Brain/pathology ; Central Nervous System/metabolism ; Disease Susceptibility ; Glutamic Acid/metabolism ; Humans ; Lactic Acid/metabolism ; Maple Syrup Urine Disease/pathology ; Metabolic Networks and Pathways ; Nervous System Diseases/etiology ; Nervous System Diseases/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
Autorzy:
Margutti AVB; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, Bandeirantes Av., 3900 - HC Criança - off D506, Ribeirão Prêto, SP, 14049-900, Brazil.
Silva WA Jr; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; National Institute of Science and Technology in Stem Cell, and Cell Therapy, Regional Blood Center of Ribeirão Preto, Ribeirão Preto, SP, Brazil.; Center for Medical Genomics at Clinics Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Garcia DF; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; National Institute of Science and Technology in Stem Cell, and Cell Therapy, Regional Blood Center of Ribeirão Preto, Ribeirão Preto, SP, Brazil.
de Molfetta GA; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; National Institute of Science and Technology in Stem Cell, and Cell Therapy, Regional Blood Center of Ribeirão Preto, Ribeirão Preto, SP, Brazil.; Center for Medical Genomics at Clinics Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Marques AA; National Institute of Science and Technology in Stem Cell, and Cell Therapy, Regional Blood Center of Ribeirão Preto, Ribeirão Preto, SP, Brazil.
Amorim T; Associação de Pais e Amigos dos Excepcionais of Salvador, Salvador, BA, Brazil.; Department of Life Sciences, Bahia State University, Salvador, BA, Brazil.
Prazeres VMG; Federal University of Amazonas, Manaus, AM, Brazil.
Boy da Silva RT; Department of Pediatrics, Medical Sciences School, Rio de Janeiro State University, Rio de Janeiro, RJ, Brazil.
Miura IK; Sírio-Libanês Hospital, São Paulo, SP, Brazil.
Seda Neto J; Sírio-Libanês Hospital, São Paulo, SP, Brazil.
Santos ES; Department of Medicine, Federal University of Sergipe, São Cristóvão, SE, Brazil.
Santos MLSF; Pequeno Príncipe Hospital, Curitiba, PR, Brazil.
Lourenço CM; Medical School, Estácio University Center of Ribeirão Preto, Ribeirão Preto, SP, Brazil.
Tonon T; Posgraduate Programme in Medicine - Medical Sciences, Federal University of Rio Grande Do Sul, Porto Alegre, RS, Brazil.
Sperb-Ludwig F; Department of Genetics, Federal University of Rio Grande Do Sul, Porto Alegre, RS, Brazil.; BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences), Clinics Hospital of Porto Alegre, Porto Alegre, RS, Brazil.
de Souza CFM; Medical Genetics Service, Clinics Hospital of Porto Alegre, Department of Genetics, Federal University of Rio Grande Do Sul, Porto Alegre, RS, Brazil.
Schwartz IVD; Medical Genetics Service, Clinics Hospital of Porto Alegre, Department of Genetics, Federal University of Rio Grande Do Sul, Porto Alegre, RS, Brazil.
Camelo JS Jr; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, Bandeirantes Av., 3900 - HC Criança - off D506, Ribeirão Prêto, SP, 14049-900, Brazil. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Nov 01; Vol. 15 (1), pp. 309. Date of Electronic Publication: 2020 Nov 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Maple Syrup Urine Disease*/genetics
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)/genetics ; Brazil ; Cross-Sectional Studies ; Humans ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department.
Autorzy:
Yıldız Y; Division of Pediatric Metabolism, Department of Pediatrics, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey. .
Akcan Yıldız L; Division of Pediatric Emergency, Department of Pediatrics, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Dursun A; Division of Pediatric Metabolism, Department of Pediatrics, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Tokatlı A; Division of Pediatric Metabolism, Department of Pediatrics, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Coşkun T; Division of Pediatric Metabolism, Department of Pediatrics, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Tekşam Ö; Division of Pediatric Emergency, Department of Pediatrics, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Sivri HS; Division of Pediatric Metabolism, Department of Pediatrics, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
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Źródło:
European journal of pediatrics [Eur J Pediatr] 2020 Jul; Vol. 179 (7), pp. 1107-1114. Date of Electronic Publication: 2020 Feb 11.
Typ publikacji:
Journal Article
MeSH Terms:
Maple Syrup Urine Disease/*diagnosis
Maple Syrup Urine Disease/*physiopathology
Acid-Base Equilibrium ; Acute Disease ; Adolescent ; Biomarkers/metabolism ; Child ; Child, Preschool ; Disease Progression ; Emergencies ; Emergency Service, Hospital ; Female ; Humans ; Infant ; Logistic Models ; Male ; Maple Syrup Urine Disease/metabolism ; Medical History Taking ; Physical Examination ; ROC Curve ; Retrospective Studies ; Uric Acid/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease.
Autorzy:
Nguyen TTN; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.
Vu CD; National Hospital of Pediatrics, Hanoi, Vietnam.
Nguyen NL; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.; Graduate University of Science and Technology, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.
Nguyen TTH; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.; Graduate University of Science and Technology, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.
Nguyen NK; National Hospital of Pediatrics, Hanoi, Vietnam.
Nguyen HH; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Aug; Vol. 8 (8), pp. e1337. Date of Electronic Publication: 2020 Jun 09.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)/*genetics
Maple Syrup Urine Disease/*genetics
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)/chemistry ; Female ; Humans ; Infant, Newborn ; Male ; Maple Syrup Urine Disease/pathology ; Mutation, Missense ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel HILIC-ESI-MS method for urinary profiling of MSUD and methylmalonic aciduria biomarkers.
Autorzy:
Mathew EM; Department of Pharmaceutical Quality Assurance, Manipal College of Pharmaceutical Sciences, Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India.
Lewis L; Department of Paediatrics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India.
Rao P; Department of Biochemistry, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India.
Nalini K; Department of Biochemistry, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India.
Kamath A; Department of Statistics, Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India.
Moorkoth S; Department of Pharmaceutical Quality Assurance, Manipal College of Pharmaceutical Sciences, Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India.
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Źródło:
Journal of chromatographic science [J Chromatogr Sci] 2019 Aug 16; Vol. 57 (8), pp. 715-723.
Typ publikacji:
Evaluation Study; Journal Article
MeSH Terms:
Amino Acid Metabolism, Inborn Errors/*urine
Biomarkers/*urine
Chromatography, High Pressure Liquid/*methods
Maple Syrup Urine Disease/*urine
Spectrometry, Mass, Electrospray Ionization/*methods
Amino Acid Metabolism, Inborn Errors/diagnosis ; Humans ; Malonates/urine ; Maple Syrup Urine Disease/diagnosis
SCR Disease Name:
Methylmalonic acidemia
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Paroxysmal spasticity of lower extremities as the initial symptom in two siblings with maple syrup urine disease.
Autorzy:
Liu YD; Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, P.R. China.
Chu X; Department of Neurology, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China.
Liu RH; Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China.
Sun Y; Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, P.R. China.
Kong QX; Department of Neurology, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China.
Li QB; Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2019 Jun; Vol. 19 (6), pp. 4872-4880. Date of Electronic Publication: 2019 Apr 05.
Typ publikacji:
Journal Article
MeSH Terms:
Lower Extremity*/diagnostic imaging
Siblings*
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)/*genetics
Maple Syrup Urine Disease/*genetics
Alleles ; Amino Acid Substitution ; Amino Acids, Branched-Chain ; Asian People ; Base Sequence ; Brain Diseases ; Child ; Electroencephalography/methods ; Exons ; Female ; Genetic Testing ; Heterozygote ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Maple Syrup Urine Disease/diagnostic imaging ; Mutation, Missense ; Pedigree ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism.
Autorzy:
Porta F; Departments of Pediatrics, Dialysis and Transplantation Unit, Città della Salute e della Scienza, Regina Margherita Children's Hospital, Torino, Italy.
Peruzzi L; Departments of Nephrology, Dialysis and Transplantation Unit, Città della Salute e della Scienza, Regina Margherita Children's Hospital, Torino, Italy.
Bonaudo R; Departments of Nephrology, Dialysis and Transplantation Unit, Città della Salute e della Scienza, Regina Margherita Children's Hospital, Torino, Italy.
Pieretti S; Departments of Pediatrics, Dialysis and Transplantation Unit, Città della Salute e della Scienza, Regina Margherita Children's Hospital, Torino, Italy.
Busso M; Departments of Pediatrics, Dialysis and Transplantation Unit, Città della Salute e della Scienza, Regina Margherita Children's Hospital, Torino, Italy.
Cocchi E; Departments of Pediatrics, Dialysis and Transplantation Unit, Città della Salute e della Scienza, Regina Margherita Children's Hospital, Torino, Italy.
Conio A; Departments of Anesthesia and Intensive Care, Dialysis and Transplantation Unit, Città della Salute e della Scienza, Regina Margherita Children's Hospital, Torino, Italy.
Pagliardini V; Departments of Pediatrics, Dialysis and Transplantation Unit, Città della Salute e della Scienza, Regina Margherita Children's Hospital, Torino, Italy.
Spada M; Departments of Pediatrics, Dialysis and Transplantation Unit, Città della Salute e della Scienza, Regina Margherita Children's Hospital, Torino, Italy.
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Źródło:
Nephrology (Carlton, Vic.) [Nephrology (Carlton)] 2018 Oct; Vol. 23 (10), pp. 957-961.
Typ publikacji:
Journal Article
MeSH Terms:
Amino Acid Metabolism, Inborn Errors/*therapy
Maple Syrup Urine Disease/*therapy
Renal Replacement Therapy/*methods
Urea Cycle Disorders, Inborn/*therapy
Age Factors ; Amino Acid Metabolism, Inborn Errors/diagnosis ; Amino Acid Metabolism, Inborn Errors/mortality ; Amino Acid Metabolism, Inborn Errors/physiopathology ; Child Development ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Liver Transplantation ; Male ; Maple Syrup Urine Disease/diagnosis ; Maple Syrup Urine Disease/mortality ; Maple Syrup Urine Disease/physiopathology ; Recovery of Function ; Renal Replacement Therapy/adverse effects ; Renal Replacement Therapy/mortality ; Risk Factors ; Time Factors ; Treatment Outcome ; Urea Cycle Disorders, Inborn/diagnosis ; Urea Cycle Disorders, Inborn/mortality ; Urea Cycle Disorders, Inborn/physiopathology
SCR Disease Name:
Methylmalonic acidemia
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Successful pregnancy in maple syrup urine disease: a case report and review of the literature.
Autorzy:
Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany. .
Rosenbaum-Fabian S; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany.
Schumann A; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany.
Schwab KO; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany.
Mingirulli N; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany.
Spiekerkoetter U; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany.
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Źródło:
Nutrition journal [Nutr J] 2018 May 12; Vol. 17 (1), pp. 51. Date of Electronic Publication: 2018 May 12.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Pregnancy Outcome*
Maple Syrup Urine Disease/*complications
Pregnancy Complications/*therapy
Adult ; Amino Acids, Branched-Chain/blood ; Cesarean Section ; Diet ; Diet, Protein-Restricted ; Female ; Humans ; Lactation ; Leucine/administration & dosage ; Leucine/blood ; Maple Syrup Urine Disease/blood ; Maple Syrup Urine Disease/therapy ; Postpartum Period ; Pregnancy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Surgical technique and the long-term outcomes of pediatric living donor domino liver transplantation from patients with maple syrup urine disease.
Autorzy:
Shimizu S; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
Sakamoto S; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
Fukuda A; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
Yanagi Y; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
Uchida H; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
Mimori K; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
Nakao T; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
Sun C; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
Horikawa R; Department of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan.
Kasahara M; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
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Źródło:
Pediatric transplantation [Pediatr Transplant] 2022 Mar; Vol. 26 (2), pp. e14174. Date of Electronic Publication: 2021 Oct 23.
Typ publikacji:
Journal Article
MeSH Terms:
Living Donors*
Liver Transplantation/*methods
Maple Syrup Urine Disease/*complications
Child ; Child, Preschool ; Female ; Humans ; Infant ; Male
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review.
Autorzy:
Hassona, Yazan
Alqaisi, Dua'a
Flaifl, Yara
Alkilani, Asma
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Temat:
DENTAL care
MEDICAL information storage & retrieval systems
TEETH abnormalities
SKELETAL muscle
ORAL manifestations of general diseases
GINGIVITIS
SYSTEMATIC reviews
MEDLINE
LITERATURE reviews
DENTAL plaque
MAPLE syrup urine disease
ONLINE information services
DENTAL caries
PHENOTYPES
ORAL health
DISEASE risk factors
Źródło:
BMC Oral Health; 3/21/2024, Vol. 24 Issue 1, p1-8, 8p
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 1328

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