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3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals

Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine metabolism caused by mutations in MCCC1 or MCCC2 encoding the α and β subunit of MCC, respectively. The phenotype is highly variable ranging from acute neonatal onset with fatal outcome to asympt...

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Bibliographische Detailangaben
Hauptverfasser: Grünert, Sarah (VerfasserIn) , Kölker, Stefan (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 2012
In: Orphanet journal of rare diseases
Year: 2012, Jahrgang: 7
ISSN:1750-1172
DOI:10.1186/1750-1172-7-31
Online-Zugang:Verlag, kostenfrei, Volltext: http://dx.doi.org/10.1186/1750-1172-7-31
Verlag, kostenfrei, Volltext: https://doi.org/10.1186/1750-1172-7-31
Volltext
Verfasserangaben:Sarah C. Grünert, Martin Stucki, Raphael J. Morscher, Terttu Suormala, Celine Bürer, Patricie Burda, Ernst Christensen, Can Ficicioglu, Jürgen Herwig, Stefan Kölker, Dorothea Möslinger, Elisabetta Pasquini, René Santer, K. Otfried Schwab, Bridget Wilcken, Brian Fowler, Wyatt W. Yue and Matthias R. Baumgartner

MARC

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