Literature DB >> 2515383

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

E M Layward1, M S Tanner, R J Pollitt, K Bartlett.   

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Year:  1989        PMID： 2515383     DOI： 10.1007/bf01799234

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


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  3 in total

1.  Evidence for the enzymic defect in beta-methylcrotonylglycinuria.

Authors:  D Gompertz; P A Goodey; K Bartlett
Journal:  FEBS Lett       Date:  1973-05-15       Impact factor: 4.124

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

Authors:  K Bartlett; M J Bennett; R P Hill; L S Lashford; R J Pollitt; H G Worth
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

3.  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 in total
  7 in total

1.  3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case.

Authors:  K M Gibson; C F Lee; R S Wappner
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.

Authors:  Jonathan Rips; Shlomo Almashanu; Hanna Mandel; Sagi Josephsberg; Tally Lerman-Sagie; Ayelet Zerem; Ben Podeh; Yair Anikster; Avraham Shaag; Anthony Luder; Orna Staretz Chacham; Ronen Spiegel
Journal:  J Inherit Metab Dis       Date:  2015-11-13       Impact factor: 4.982

3.  Benign clinical presentation of 3-methylcrotonylglycinuria.

Authors:  M A Pearson; K A Aleck; R A Heidenreich
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

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.  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

6.  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

Review 7.  Screening for defects of branched-chain amino acid metabolism.

Authors:  K M Gibson; C F Lee; G F Hoffmann
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183
  7 in total

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