Literature DB >> 6775147

Leukocyte propionyl-CoA carboxylase deficiency in a patient with ketotic hyperglycinaemia.

J A Del Valle, B Merinero, M J Garciá, M Ugarte, F Omeñaca, G Neustadt.   

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Year:  1980        PMID： 6775147     DOI： 10.1007/bf02312537

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


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  4 in total

1.  Localisation of enzymic defect in propionicacidaemia.

Authors:  D Gompertz; C N Storrs; D C Bau; T J Peters; E A Hughes
Journal:  Lancet       Date:  1970-05-30       Impact factor: 79.321

2.  Propionicacidemia (ketotic hyperglycinemia): dietary treatment resulting in normal growth and development.

Authors:  I K Brandt; Y E Hsia; D H Clement; S A Provence
Journal:  Pediatrics       Date:  1974-03       Impact factor: 7.124

3.  Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia".

Authors:  Y E Hsia; K J Scully; L E Rosenberg
Journal:  J Clin Invest       Date:  1971-01       Impact factor: 14.808

4.  Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria.

Authors:  W Weyler; L Sweetman; D C Maggio; W L Nyhan
Journal:  Clin Chim Acta       Date:  1977-05-02       Impact factor: 3.786
  4 in total
  1 in total

1.  Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency.

Authors:  J A DelValle; B Merinero; A Jiménez; M J García; M Ugarte; F Omeñaca; G Neustadt; J Quero
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982
  1 in total

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