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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Clinical application value of preconception and prenatal carrier screening in Yinchuan. [PDF]
Front GenetHan H +5 more
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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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Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant. [PDF]
Clin EpigeneticsŠkopková M +7 more
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A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders. [PDF]
J Inherit Metab DisMcCarron EP +7 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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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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Refining MMA Screening in the Dutch Newborn Screening Program: Lessons from Vitamin B12 Deficiency and Genetic Cases. [PDF]
Int J Neonatal ScreenMeijer NWF +8 more
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