B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature. [electronic resource]
Producer: 20210604Description: 920-926 p. digitalISSN:- 1399-0004
- Cholestasis -- genetics
- Congenital Disorders of Glycosylation -- genetics
- Galactosyltransferases -- genetics
- Glycosylation
- Homozygote
- Humans
- Hypertension, Pulmonary -- genetics
- Infant
- Infant, Newborn
- Intellectual Disability -- genetics
- Male
- Mutation -- genetics
- Nephrotic Syndrome -- genetics
- Pedigree
- Seizures -- genetics
- Thrombocytopenia -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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