Literature DB >> 8598648

Benign clinical presentation of 3-methylcrotonylglycinuria.

M A Pearson1, K A Aleck, R A Heidenreich.   

Abstract

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Year:  1995        PMID： 8598648     DOI： 10.1007/bf02436012

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


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  3 in total

1.  Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness.

Authors:  E M Layward; M S Tanner; R J Pollitt; K Bartlett
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

2.  Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.

Authors:  F A Beemer; K Bartlett; M Duran; H K Ghneim; S K Wadman; L Bruinvis; D Ketting
Journal:  Eur J Pediatr       Date:  1982-07       Impact factor: 3.183

3.  Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency.

Authors:  O N Elpeleg; S Havkin; V Barash; C Jakobs; B Glick; R S Shalev
Journal:  J Pediatr       Date:  1992-09       Impact factor: 4.406
  3 in total
  4 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.  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

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

Review 4.  Microbiota and Malodor-Etiology and Management.

Authors:  Izabella Mogilnicka; Pawel Bogucki; Marcin Ufnal
Journal:  Int J Mol Sci       Date:  2020-04-20       Impact factor: 5.923
  4 in total

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