Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria

Author:

Gibson K.M.,Sherwood W.G.,Hoffmann G.F.,Stumpf D.A.,Dianzanl I.,Schutgens R.B.H.,Barth P.G.,Weismann U.,Bachmann C.,Schrynemackers-Pitance P.,Verloes A.,Narisawa K.,Mino M.,Ohya N.,Kelley R.I.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference22 articles.

1. β-Methyl glutaconic aciduria: a new disorder of leucine metabolism;Robinson;Pediatr Res,1976

2. X-linked cardiomyopathy, neutropenia, and increased urinary levels of 3-methylglutaconic and 2-ethylhydracrylic acids;Kelley;Am J Hum Genet,1989

3. 3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal;Gibson;Eur J Pediatr,1988

4. Inherited 3-methylglutaconic aciduria in two brothers—another defect of leucine metabolism;Duran;J Pediatr,1982

5. Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria;Narisawa;J Clin Invest,1986

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