Literature DB >> 3930836

Evaluation of cofactor responsiveness.

J V Leonard, P Daish.   

Abstract

The response to cofactor therapy in inborn errors of metabolism may be dramatic with complete resolution of the clinical illness but more commonly the response is absent or partial. When assessing cofactor responsiveness clinical and biochemical findings as well as the natural history of the disorder must be taken into account.

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Year:  1985        PMID: 3930836     DOI: 10.1007/bf01800654

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


  4 in total

1.  Biotin-responsive propionicacidaemia.

Authors:  N D Barnes; D Hull; L Balgobin; D Gompertz
Journal:  Lancet       Date:  1970-08-01       Impact factor: 79.321

2.  In vitro "responsive" methylmalonic acidemia: a new variant.

Authors:  C I Kaye; G Morrow; H L Nadler
Journal:  J Pediatr       Date:  1974-07       Impact factor: 4.406

3.  Methylmalonic aciduria: a variant form of methylmalonyl coenzyme A apomutase deficiency.

Authors:  B Wilcken; H A Kilham; K Faull
Journal:  J Pediatr       Date:  1977-09       Impact factor: 4.406

4.  The natural history of the inherited methylmalonic acidemias.

Authors:  S M Matsui; M J Mahoney; L E Rosenberg
Journal:  N Engl J Med       Date:  1983-04-14       Impact factor: 91.245

  4 in total
  1 in total

Review 1.  Diagnosis and management of inborn errors of metabolism.

Authors:  J E Wraith
Journal:  Arch Dis Child       Date:  1989-10       Impact factor: 3.791

  1 in total

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