5 Result(s)
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Chapter
Georg F Hoffmann
Biomedicine
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Chapter
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy
SLC25A42 is an inner mitochondrial membrane protein which has been shown to transport coenzyme A through a lipid bilayer in vitro. A homozygous missense variant in this gene has been recently reported in 13 su...
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Chapter
Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias
Background: The state of newborn screening (NBS) programmes for organic acidurias in Europe was assessed by a web-based questionnaire in the EU programme of Community Action in Public Health 2010/2011 among the –...
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Chapter
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy
Background: In classical homocystinuria (HCU, MIM# 236200) due to the deficiency of cystathionine β-synthase (EC 4.2.1.22) there is a clear evidence for the success of early treatment. The aim of this study was t...
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Chapter
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening
Background: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is included in many newborn screening programmes worldwide. In addition to the prevalent mutation c.985A>G in the ACADM gene, pote...
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Chapter
Organoazidopathien
Organoazidopathien sind Störungen im Intermediärstoffwechsel, die durch den Anstau bestimmter Karbonsäuren (organischer Säuren) und deren vermehrte renale Ausscheidung charakterisiert sind. In der Regel beruhe...
