Associated Papers
B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.
Staretz-Chacham O et al.
Clinical Genetics, 2020
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C et al.
Clinical Genetics, 2019
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