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Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Lam, Christina; Ferreira, Carlos; Krasnewich, Donna; Toro, Camilo; Latham, Lea; Zein, Wadih M; Lehky, Tanya; Brewer, Carmen; Baker, Eva H; Thurm, Audrey; Farmer, Cristan A; Rosenzweig, Sergio D; Lyons, Jonathan J; Schreiber, John M; Gropman, Andrea; Lingala, Shilpa; Ghany, Marc G; Solomon, Beth; Macnamara, Ellen; Davids, Mariska; Stratakis, Constantine A; Kimonis, Virginia; Gahl, William A; Wolfe, Lynne.
  • Lam C; Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Ferreira C; Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Krasnewich D; Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA.
  • Toro C; Division of Genetics and Developmental Biology, National Institute of General Medical Sciences, National Institutes of Health, Bethesda, Maryland, USA.
  • Latham L; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Zein WM; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Lehky T; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Brewer C; Electromyography Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
  • Baker EH; Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
  • Thurm A; Department of Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.
  • Farmer CA; Pediatric and Developmental Neuroscience Branch, National Institute of Mental Health, Bethesda, Maryland, USA.
  • Rosenzweig SD; Pediatric and Developmental Neuroscience Branch, National Institute of Mental Health, Bethesda, Maryland, USA.
  • Lyons JJ; Immunology Service, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.
  • Schreiber JM; Genetics and Pathogenesis of Allergy Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
  • Gropman A; Clinical Epilepsy Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
  • Lingala S; Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Ghany MG; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA.
  • Solomon B; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA.
  • Macnamara E; Speech and Language Pathology Section, Department of Rehabilitation Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.
  • Davids M; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Stratakis CA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Kimonis V; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
  • Gahl WA; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Irvine, California, USA.
  • Wolfe L; Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Genet Med ; 19(2): 160-168, 2017 02.
Article en En | MEDLINE | ID: mdl-27388694
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Glicoproteínas / Discapacidades del Desarrollo / Péptido-N4-(N-acetil-beta-glucosaminil) Asparagina Amidasa Tipo de estudio: Guideline / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Glicoproteínas / Discapacidades del Desarrollo / Péptido-N4-(N-acetil-beta-glucosaminil) Asparagina Amidasa Tipo de estudio: Guideline / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article