A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A > G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review. [PDF]
Medicine (Baltimore)Cui X, Zhong Y, Yin C.
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The first report of primary hypotonia with abnormal electromyogram and CBS mutation in a Chinese child. [PDF]
BMC Med GenomicsZhang Z, Xu S, Wu T, Xu W, Wu B, Yang C.
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Encephalitis-like presentation of methylmalonic acidemia with homocystinuria in a postpartum woman: a case report. [PDF]
Front PsychiatryWang Q, Ji Z, Wang Y, Qi Z.
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Extensive cerebral venous thrombosis associated with severe hyperhomocysteinemia in a child: a case report. [PDF]
Pan Afr Med JHan L, Li Q, Chen G.
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Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria. [PDF]
Mol Genet Metab RepSultan R +5 more
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Outcomes of the national premarital genetic screening program for cystic fibrosis, homocystinuria, and spinal muscular atrophy in Qatar. [PDF]
Hum GenomicsAlMarzooqi SK +7 more
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Dementia, diarrhea, desquamating shellac-like dermatitis revealing late-onset cobalamin C deficiency
JAAD Case Reports, 2018 Robert Christopher Gilson, BS +3 more
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A novel 110-bp insertion in a patient with homocysteinuria
Turkish Journal of Hematology, 2011 Didem Torun +3 more
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Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis. [PDF]
Int J Neonatal ScreenHuang S +9 more
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