Associated Papers
COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient.
Zhang XY et al.
Human Mutation, 2024
The Swedish COG6-CDG experience and a comprehensive literature review.
Xia ZJ et al.
Jimd Reports, 2023
Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.
Zhao P et al.
Molecular Genetics & Genomic Medicine, 2021
Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.
Makhamreh MM et al.
Journal of Inherited Metabolic Disease, 2020
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Ashikov A et al.
Human Molecular Genetics, 2018
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