- Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuriaLisa Bishop
Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA
J Child Neurol 23:823-8. 2008..This case emphasizes the need to include homocystinuria in the differential diagnosis of children with acute/subacute neurological changes, particularly in the context of developmental delay...
- Outcomes of four patients with homocysteine remethylation disorders detected by newborn screeningDerek Wong
Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
Genet Med 18:162-7. 2016..We evaluated the clinical outcome in homocysteine remethylation disorders following newborn screening (NBS) and initiation of early specific treatment...