Literature DB >> 26660660

3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen?

Bridget Wilcken1.   

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Year:  2015        PMID： 26660660     DOI： 10.1007/s10545-015-9906-9

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

Authors:  Georgianne L Arnold; Dwight D Koeberl; Dietrich Matern; Bruce Barshop; Nancy Braverman; Barbara Burton; Stephen Cederbaum; Annette Fiegenbaum; Cheryl Garganta; James Gibson; Stephen I Goodman; Cary Harding; Stephen Kahler; David Kronn; Nicola Longo
Journal:  Mol Genet Metab       Date:  2007-12-21       Impact factor: 4.797

2.  Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.

Authors:  Christina Lam; Jennifer M Carter; Stephen D Cederbaum; Julie Neidich; Natalie M Gallant; Fred Lorey; Lisa Feuchtbaum; Derek A Wong
Journal:  Mol Genet Metab       Date:  2013-09-17       Impact factor: 4.797

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

Authors:  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; Matthias R Baumgartner
Journal:  Orphanet J Rare Dis       Date:  2012-05-29       Impact factor: 4.123
  3 in total
  2 in total

1.  Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.

Authors:  RaeLynn Forsyth; Catherine Walsh Vockley; Mathew J Edick; Cynthia A Cameron; Sally J Hiner; Susan A Berry; Jerry Vockley; Georgianne L Arnold
Journal:  Mol Genet Metab       Date:  2016-02-15       Impact factor: 4.797

2.  Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.

Authors:  Zhuo Shao; Ikuo Masuho; Anupreet Tumber; Jason T Maynes; Erika Tavares; Asim Ali; Stacy Hewson; Andreas Schulze; Peter Kannu; Kirill A Martemyanov; Ajoy Vincent
Journal:  Genes (Basel)       Date:  2021-08-29       Impact factor: 4.096
  2 in total

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