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Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients
Institution:1. State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, China;2. Hunan Jiahui Genetics Hospital, 110 Xiangya Road, Changsha, Hunan 410078, China;1. Division of Medical Genetics, Division of Medical Genetics, Children''s Hospital Los Angeles, University of Southern California Keck School of Medicine, USA;2. Royal Children''s Hospital, Melbourne, Murdoch Children''s Research Institute, Australia;3. Department of Paediatrics, University of Melbourne, Australia;4. Neuroradiology, Department of Medicine and Surgery, University of Salerno, Italy;5. Division of Inherited Metabolic Diseases, Department of Paediatrics, University Hospital of Padua, Padua, Italy;6. Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Italy;1. Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children''s Hospital Heidelberg, D-69120 Heidelberg, Germany;2. Institute of Neurology (Edinger Institute), Goethe-University Frankfurt, D-60528 Frankfurt/Main, Germany;3. Department of Pediatrics, Oregon Health and Science University, Portland, OR, USA
Abstract:
Keywords:Glutaric aciduria Type-1  Pathogenic variants  Macrocephaly  Dystonia  Molecular genetics
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