Exploring genotype-phenotype correlations in glutaric aciduria type 1.

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作者： Imke M E,Schuurmans ^[1] ; Bianca,Dimitrov ^[2] ; Julian,Schröter ^[3] ; Antonia,Ribes ^[4] ; Rubén Pérez,de la Fuente ^[5] ; Berta,Zamora ^[5] ; Clara D M,van Karnebeek ^[6] ; Stefan,Kölker ^[7] ; Alejandro,Garanto ^[8]

作者单位： Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands. ^[1] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. ^[2] Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands. ^[3] Department of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam University Medical Centers, Amsterdam, The Netherlands. ^[4] Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. ^[5] Division of Pediatric Epileptology, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. ^[6] Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic de Barcelona, IDIBAPS-CIBERER, Barcelona, Spain. ^[7] Genetics Department, 12 de Octubre University Hospital, Madrid, Spain. ^[8] Paediatric Neuropsychology Department, 12 de Octubre University Hospital, Madrid, Spain. ^[9] United for Metabolic Diseases, The Netherlands. ^[10] Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands. ^[11] Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. ^[12]

关键词 GCDH variants glutaric aciduria type 1 lysine catabolism disorder pathogenicity score phenotype-genotype correlation

主题词人类(Humans);戊二酰-CoA脱氢酶(Glutaryl-CoA Dehydrogenase);脑疾病, 代谢性(Brain Diseases, Metabolic);突变, 误义(Mutation, Missense);氨基酸代谢障碍, 先天性(Amino Acid Metabolism, Inborn Errors)

DOI 10.1002/jimd.12608

PMID 37020324

发布时间 2023-06-26

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