Associated Papers
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia.
Lu F et al.
Pediatric Research, 2025
Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia.
Xiao D et al.
Frontiers in Genetics, 2024
Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis.
Wiedemann A et al.
Cell Reports. Medicine, 2022
Late-onset cobalamin C disease presenting with acute cerebellar ataxia.
Wei Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.
Zhang R et al.
Scientific Reports, 2021
Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia.
Zhang C et al.
Scientific Reports, 2020
Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria.
Wei Y et al.
Journal of Neurology, 2019
Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review.
Wang C et al.
European Journal of Medical Genetics, 2019
Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series.
Wang SJ et al.
Neuropsychiatric Disease and Treatment, 2019
Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.
Wang SJ et al.
Metabolic Brain Disease, 2018
[Acute brainstem encephalitis and myelitis in a girl with isolated methylmalonic aciduria due to MUT gene defect].
Liu YP et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type.
Liu Y et al.
Brain & Development, 2015
[A Chinese boy with methylmalonic aciduria cblB type and a novel mutation in the MMAB gene].
Liu YP et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
[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
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.
Huemer M et al.
Orphanet Journal of Rare Diseases, 2014
[Advances in the clinical and laboratory studies on methylmalonic aciduria combined with homocysteinemia type cblC].
Liu YP et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
[Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
Liu YP et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
Tsai AC et al.
American Journal of Medical Genetics. Part A, 2007
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
Morel CF et al.
Molecular Genetics and Metabolism, 2006