Associated Papers
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.
Zhao S et al.
Nature Communications, 2023
37978175 (PubMed )
Supplement: 41467_2023_43062_MOESM5_ESM.xlsx › Sheet1
ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
Sturiale L et al.
Glycoconjugate Journal, 2019
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.
Kranz C et al.
American Journal of Medical Genetics. Part A, 2007
Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig.
Eklund EA et al.
Molecular Genetics and Metabolism, 2005
Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature.
Di Rocco M et al.
Journal of Inherited Metabolic Disease, 2005
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