ALG3-CDG (CDG-Id): Clinical, biochemical and molecular findings in two siblings
- 31 October 2013
- journal article
- case report
- Published by Elsevier BV in Molecular Genetics and Metabolism
- Vol. 110 (1-2), 170-175
- https://doi.org/10.1016/j.ymgme.2013.05.020
Abstract
No abstract availableKeywords
This publication has 8 references indexed in Scilit:
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- Congenital Disorder of Glycosylation Id Presenting with Hyperinsulinemic Hypoglycemia and Islet Cell HyperplasiaJournal of Clinical Endocrinology & Metabolism, 2005
- CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter)European Journal of Medical Genetics, 2005
- Carbohydrate-Deficient Glycoprotein Syndrome - A Fourth SubtypeNeuropediatrics, 1995