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Mannosyl-oligosaccharide glucosidase - congenital disorder of glycosylation: A patient with novel variants.

AuthorsMikito Ota, Jun Miyahara, Ayumi Itano, Hiroshi Sugiura, Shigeru Ohki
JournalPediatrics international : official journal of the Japan Pediatric Society (Pediatr Int) Vol. 62 Issue 3 Pg. 417-418 (Mar 2020) ISSN: 1442-200X [Electronic] Australia
PMID32246563 (Publication Type: Case Reports, Journal Article)
Chemical References
  • glucosidase I
  • alpha-Glucosidases
Topics
  • Agammaglobulinemia (blood)
  • Congenital Disorders of Glycosylation (diagnosis, genetics)
  • Echocardiography, Three-Dimensional (methods)
  • Fatal Outcome
  • Glycosylation
  • Humans
  • Infant
  • Male
  • Mutation
  • Exome Sequencing
  • alpha-Glucosidases (genetics)

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