Literature DB >> 6441868

Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.

K Bartlett, M J Bennett, R P Hill, L S Lashford, R J Pollitt, H G Worth.   

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Year:  1984        PMID： 6441868     DOI： 10.1007/bf01805608

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


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  1 in total

1.  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
  1 in total
  7 in total

1.  Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.

Authors:  H G M Oude Luttikhuis; G Touati; D Rabier; M Williams; C Jakobs; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

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.  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

Review 4.  Enzyme studies in biotin-responsive disorders.

Authors:  K Bartlett; H K Ghneim; H J Stirk; H Wastell
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

5.  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

6.  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

7.  Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome.

Authors:  C Bannwart; B Wermuth; R Baumgartner; T Suormala; U N Weismann
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982
  7 in total

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