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Cerebral edema and intracranial hypertension in an adult with maple syrup urine disease
Download from dx.doi.orgCauses of and diagnostic approach to methylmalonic acidurias.
Download from onlinelibrary.wiley.comGene Identification for the cblD Defect of Vitamin B12Metabolism
Download from www.researchgate.netOutcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency
UploadCardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosis
Download from dx.doi.orgElevated serum biotinidase activity in hepatic glycogen storage disorders–A convenient biomarker
Download from doc.rero.chPyridoxal 5 '-phosphate may be curative in early-onset epileptic encephalopathy
Download from onlinelibrary.wiley.comThe First Case of 3-Methylcrotonyl-CoA Carboxylase (MCC) Deficiency Responsive to Biotin
Download from www.researchgate.netMutations in antiquitin in individuals with pyridoxine-dependent seizures.
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