B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement-Reference-Cited by-同舟云学术

B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement

Published:2011-12 Issue:6 Volume:159 Page:1041-1043.e2
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Guillard Maïlys,Morava Eva,de Ruijter Jorg,Roscioli Tony,Penzien Johann,van den Heuvel Lambert,Willemsen Michel A.,de Brouwer Arjan,Bodamer Olaf A.,Wevers Ron A.,Lefeber Dirk J.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference17 articles.

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2. A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia;Morava;Eur J Hum Genet,2007

3. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2;Kornak;Nat Genet,2008

4. Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern;Mohamed;Biochim Biophys Acta,2011

5. Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId;Hansske;J Clin Invest,2002

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