Associated Papers
Maternal mixed UPD3 and a homozygous PLXNA1 c.2497G>C variant in a fetus with severe anomalies.
Ye Y et al.
Frontiers in Medicine, 2025
Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG.
Daniel EJP et al.
Journal of Inherited Metabolic Disease, 2024
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Alsharhan H et al.
Journal of Inherited Metabolic Disease, 2021
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
Farolfi M et al.
Bmc Ophthalmology, 2021
ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.
Bian Y et al.
Journal of Human Genetics, 2020
Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry.
Chen J et al.
Clinical Chemistry, 2019
CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).
Schollen E et al.
European Journal of Medical Genetics, 0
ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings.
Riess S et al.
Molecular Genetics and Metabolism, 0
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