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3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Grünert, Sarah C; Stucki, Martin; Morscher, Raphael J; Suormala, Terttu; Bürer, Celine; Burda, Patricie; Christensen, Ernst; Ficicioglu, Can; Herwig, Jürgen; Kölker, Stefan; Möslinger, Dorothea; Pasquini, Elisabetta; Santer, René; Schwab, K Otfried; Wilcken, Bridget; Fowler, Brian; Yue, Wyatt W; Baumgartner, Matthias R.
Affiliation
  • Grünert SC; Division of Metabolism and Children's Research Center (CRC), University Children's Hospital Zurich, and Zürich Center for Integrative Human Physiology (ZHIP), University of Zürich, Steinwiesstraße 75, 8032, Zürich, Switzerland.
Orphanet J Rare Dis ; 7: 31, 2012 May 29.
Article in En | MEDLINE | ID: mdl-22642865
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Urea Cycle Disorders, Inborn Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2012 Type: Article Affiliation country: Switzerland
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Urea Cycle Disorders, Inborn Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2012 Type: Article Affiliation country: Switzerland