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Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Haijes, Hanneke A; de Sain-van der Velden, Monique G M; Prinsen, Hubertus C M T; Willems, Anke P; van der Ham, Maria; Gerrits, Johan; Couse, Madeline H; Friedman, Jan M; van Karnebeek, Clara D M; Selby, Kathryn A; van Hasselt, Peter M; Verhoeven-Duif, Nanda M; Jans, Judith J M.
Afiliação
  • Haijes HA; Section Metabolic Diagnostics, Department of Genetics, Utrecht University, University Medical Centre Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, L
  • de Sain-van der Velden MGM; Section Metabolic Diagnostics, Department of Genetics, Utrecht University, University Medical Centre Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
  • Prinsen HCMT; Section Metabolic Diagnostics, Department of Genetics, Utrecht University, University Medical Centre Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
  • Willems AP; Section Metabolic Diagnostics, Department of Genetics, Utrecht University, University Medical Centre Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
  • van der Ham M; Section Metabolic Diagnostics, Department of Genetics, Utrecht University, University Medical Centre Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
  • Gerrits J; Section Metabolic Diagnostics, Department of Genetics, Utrecht University, University Medical Centre Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
  • Couse MH; Medical Genetics Research Unit,Children's and Women's Hospital, University of British Columbia Department of Medical Genetics, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada.
  • Friedman JM; Medical Genetics Research Unit,Children's and Women's Hospital, University of British Columbia Department of Medical Genetics, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada.
  • van Karnebeek CDM; Departments of Pediatrics and Clinical Genetics, Emma Children's Hospital, University of Amsterdam, Amsterdam University Medical Centers, Meibergdreef 9, 1105 AZ, Amsterdam, the Netherlands; Department of Pediatrics, Children's and Women's Hospital, University of British Columbia, 4500 Oak Street, V
  • Selby KA; Department of Pediatrics, Children's and Women's Hospital, University of British Columbia, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada.
  • van Hasselt PM; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
  • Verhoeven-Duif NM; Section Metabolic Diagnostics, Department of Genetics, Utrecht University, University Medical Centre Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
  • Jans JJM; Section Metabolic Diagnostics, Department of Genetics, Utrecht University, University Medical Centre Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands. Electronic address: J.J.M.Jans@umcutrecht.nl.
Mol Genet Metab ; 127(4): 368-372, 2019 08.
Article em En | MEDLINE | ID: mdl-31311714
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acetilglucosamina / Defeitos Congênitos da Glicosilação / Peptídeo-N4-(N-acetil-beta-glucosaminil) Asparagina Amidase Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2019 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acetilglucosamina / Defeitos Congênitos da Glicosilação / Peptídeo-N4-(N-acetil-beta-glucosaminil) Asparagina Amidase Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2019 Tipo de documento: Article