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5 Einträge gefunden

Use of guidelines improves the neurological outcome in glutaric aciduria type I.
2010 - Forschungsinformationssystem des UKE
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
2009 - Forschungsinformationssystem des UKE
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.
2007 - Forschungsinformationssystem des UKE
Disease manifestations and X inactivation in heterozygous females with Fabry disease.
2006 - Forschungsinformationssystem des UKE
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
2006 - Forschungsinformationssystem des UKE