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Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.
Heeley, Jennifer; Shinawi, Marwan.
Affiliation
  • Heeley J; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO.
Am J Med Genet A ; 167A(4): 816-20, 2015 Apr.
Article in En | MEDLINE | ID: mdl-25707956
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Full text: 1 Database: MEDLINE Main subject: Abnormalities, Multiple / Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase Type of study: Prognostic_studies Limits: Adolescent / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2015 Type: Article Affiliation country: Macao
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Full text: 1 Database: MEDLINE Main subject: Abnormalities, Multiple / Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase Type of study: Prognostic_studies Limits: Adolescent / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2015 Type: Article Affiliation country: Macao