Publications:

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

Orphanet Journal Of Rare Diseases

Grünert, Sarah C SC; Stucki, Martin M; Morscher, Raphael J RJ; Suormala, Terttu T; Bürer, Celine C; Burda, Patricie P; Christensen, Ernst E; Ficicioglu, Can C; Herwig, Jürgen J; Kölker, Stefan S; Möslinger, Dorothea D; Pasquini, Elisabetta E; Santer, René R; Schwab, K Otfried KO; Wilcken, Bridget B; Fowler, Brian B; Yue, Wyatt W WW; Baumgartner, Matthias R MR

Publication Date: 2012-05-29

Variant appearance in text: PC: 243dupT

PubMed Link: 22642865

Variant Present in the following documents:

• Main text
• 1750-1172-7-31.pdf

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