Literature DB >> 2515385

3-Hydroxy-3-methylglutaryl-CoA-lyase deficiency.

E Ploechl1, C Bachmann, J P Colombo, K M Gibson.   

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Year:  1989        PMID： 2515385     DOI： 10.1007/bf01799236

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


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  1 in total

1.  Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts.

Authors:  O Sovik; L Sweetman; K M Gibson; W L Nyhan
Journal:  Am J Hum Genet       Date:  1984-07       Impact factor: 11.025
  1 in total
  1 in total

1.  HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

Authors:  G A Mitchell; P T Ozand; M F Robert; L Ashmarina; J Roberts; K M Gibson; R J Wanders; S Wang; I Chevalier; E Plöchl; H Miziorko
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025
  1 in total

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