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Propionic acidemia: neonatal versus selective metabolic screening
UploadMutation analysis in 54 propionic acidemia patients
Download from www.researchgate.netMethylmalonic acidemia mimicking diabetic ketoacidosis in an infant
Download from www.researchgate.netVitamin B12 deficiency in children - underestimated danger in the light of new knowledge
Download from www.researchgate.netSubacute bilateral visual loss in methylmalonic acidemia
Download from pdfs.journals.lww.comCRIM-negative infantile Pompe disease: 42-Month treatment outcome
Download from onlinelibrary.wiley.comPostprandial changes of amino acid and acylcarnitine concentrations in dried blood samples
Download from dx.doi.orgEstablishing a Consortium for the Study of Rare Diseases: The Urea Cycle Disorders Consortium
Download from www.ncbi.nlm.nih.govDeficiency in COG5 causes a moderate form of congenital disorders of glycosylation
Download from academic.oup.comTreatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop
UploadRecommendations on the diagnosis and management of Niemann-Pick disease type C
Download from www.researchgate.netCerebral edema and intracranial hypertension in an adult with maple syrup urine disease
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