Literature DB >> 8598650

Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology.

J Mourmans1, J Bakkeren, J de Jong, R Wevers, O P van Diggelen, T Suormala, R Baumgartner, U Wendel.   

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Year:  1995        PMID： 8598650     DOI： 10.1007/bf02436014

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


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  3 in total

Review 1.  Intercurrent illness in inborn errors of intermediary metabolism.

Authors:  M A Dixon; J V Leonard
Journal:  Arch Dis Child       Date:  1992-11       Impact factor: 3.791

2.  Cerebrospinal fluid organic acids in biotinidase deficiency.

Authors:  M Duran; E R Baumgartner; T M Suormala; L Bruinvis; L Dorland; J A Smeitink; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

3.  Standardized method for high-resolution 1H-NMR of cerebrospinal fluid.

Authors:  R A Wevers; U Engelke; U Wendel; J G de Jong; F J Gabreëls; A Heerschap
Journal:  Clin Chem       Date:  1995-05       Impact factor: 8.327
  3 in total
  7 in total

1.  The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

Authors:  M R Baumgartner; S Almashanu; T Suormala; C Obie; R N Cole; S Packman; E R Baumgartner; D Valle
Journal:  J Clin Invest       Date:  2001-02       Impact factor: 14.808

Review 2.  The consequences of extended newborn screening programmes: do we know who needs treatment?

Authors:  B Wilcken
Journal:  J Inherit Metab Dis       Date:  2008-02-22       Impact factor: 4.982

3.  Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency.

Authors:  Raquel Dodelson de Kremer; Alexandra Latini; Terttu Suormala; E Regula Baumgartner; Laura Laróvere; Gabriel Civallero; Norberto Guelbert; Ana Paschini-Capra; Catalina Depetris-Boldini; Carlos Quiroga Mayor
Journal:  Metab Brain Dis       Date:  2002-03       Impact factor: 3.584

4.  Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.

Authors:  Matthias R Baumgartner; M Fernanda Dantas; Terttu Suormala; Shlomo Almashanu; Cecilia Giunta; Dolores Friebel; Boris Gebhardt; Brian Fowler; Georg F Hoffmann; E Regula Baumgartner; David Valle
Journal:  Am J Hum Genet       Date:  2004-09-09       Impact factor: 11.025

5.  Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.

Authors:  D D Koeberl; D S Millington; W E Smith; S D Weavil; J Muenzer; S E McCandless; P S Kishnani; M T McDonald; S Chaing; A Boney; E Moore; D M Frazier
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

6.  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

7.  Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.

Authors:  Peter J Shepard; Bruce A Barshop; Matthias R Baumgartner; John-Bjarne Hansen; Kristen Jepsen; Erin N Smith; Kelly A Frazer
Journal:  Genet Med       Date:  2014-11-06       Impact factor: 8.822
  7 in total

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