Literature DB >> 8441580

Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia.

M Tuchman1, S A Berry, L P Thuy, W L Nyhan.   

Abstract

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Year:  1993        PMID： 8441580

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


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  6 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.  Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency.

Authors:  S L Rutledge; G T Berry; C A Stanley; J L van Hove; D Millington
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

3.  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

4.  Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset.

Authors:  W Lehnert; H Niederhoff; T Suormala; E R Baumgartner
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183

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.  Management of a patient with holocarboxylase synthetase deficiency.

Authors:  Johan L K Van Hove; Sagi Josefsberg; Cynthia Freehauf; Janet A Thomas; Le Phuc Thuy; Bruce A Barshop; Michael Woontner; Donald M Mock; Pei-Wen Chiang; Elaine Spector; Iván Meneses-Morales; Rafael Cervantes-Roldán; Alfonso León-Del-Río
Journal:  Mol Genet Metab       Date:  2008-10-29       Impact factor: 4.797
  6 in total

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