Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I.
Yan L et al.
Molecular Genetics & Genomic Medicine, 2024
Secondary acrodermatitis enteropathica-like skin findings in a case of methylmalonic acidemia.
Chen Y et al.
Pediatric Dermatology, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
Hörster F et al.
Journal of Inherited Metabolic Disease, 2021
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.
Kang L et al.
Journal of Inherited Metabolic Disease, 2020
Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia.
Chen M et al.
Molecular Genetics & Genomic Medicine, 2020
Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.
Lin Y et al.
Bmc Medical Genetics, 2018
[Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA].
Liu Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.
Dempsey-Nunez L et al.
Molecular Genetics and Metabolism, 2012
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.
Lerner-Ellis JP et al.
Human Mutation, 2004
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