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Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
Hall, Patricia L; Lam, Christina; Alexander, John J; Asif, Ghazia; Berry, Gerard T; Ferreira, Carlos; Freeze, Hudson H; Gahl, William A; Nickander, Kim K; Sharer, Jon D; Watson, Caroline M; Wolfe, Lynne; Raymond, Kimiyo M.
Affiliation
  • Hall PL; EGL Genetic Diagnostics, LLC, Tucker, GA, USA. Electronic address: patriciahall@egl-eurofins.com.
  • Lam C; Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA; Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, Seattle, WA, USA.
  • Alexander JJ; EGL Genetic Diagnostics, LLC, Tucker, GA, USA; Department of Human Genetics, Emory University, Atlanta, GA, USA.
  • Asif G; EGL Genetic Diagnostics, LLC, Tucker, GA, USA.
  • Berry GT; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Ferreira C; Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA; Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA.
  • Freeze HH; Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
  • Gahl WA; Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA; Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States.
  • Nickander KK; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology Mayo Clinic College of Medicine, Rochester, MN, USA.
  • Sharer JD; Department of Genetics, University of Alabama Birmingham, Birmingham, AL, USA.
  • Watson CM; EGL Genetic Diagnostics, LLC, Tucker, GA, USA.
  • Wolfe L; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States.
  • Raymond KM; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology Mayo Clinic College of Medicine, Rochester, MN, USA.
Mol Genet Metab ; 124(1): 82-86, 2018 05.
Article in En | MEDLINE | ID: mdl-29550355
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Oligosaccharides / Congenital Disorders of Glycosylation / Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Qualitative_research / Screening_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2018 Document type: Article Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Oligosaccharides / Congenital Disorders of Glycosylation / Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Qualitative_research / Screening_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2018 Document type: Article Country of publication: Estados Unidos