Literature DB >> 16601894

Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.

L Pinto1, P Zen, R Rosa, G Paskulin, A Perla, L Barea, M R Baumgartner, M F Dantas, B Fowler, R Giugliani, C Vargas, M Wajner, C Graziadio.   

Abstract

We report a 3-year-old boy with isolated 3-methylcrotonyl-coenzyme A deficiency with unexpectedly severe presentation, seizures and history of cerebral ischae-mic episode.

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Year:  2006        PMID： 16601894     DOI： 10.1007/s10545-006-0188-0

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


  3 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

2.  3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.

Authors:  Maria Fernanda Dantas; Terttu Suormala; Ann Randolph; David Coelho; Brian Fowler; David Valle; Matthias R Baumgartner
Journal:  Hum Mutat       Date:  2005-08       Impact factor: 4.878

3.  Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency.

Authors:  C Steen; E R Baumgartner; M Duran; W Lehnert; T Suormala; R Fingerhut; M Stehn; A Kohlschütter
Journal:  Eur J Pediatr       Date:  1999-09       Impact factor: 3.183
  3 in total
  2 in total

Review 1.  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

2.  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
  2 in total

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