Eur J Pediatr. 1979 Jun 28;131(3):205-11.

Two sisters with isovaleric acidaemia, multiple attacks of ketoacidosis and normal development.

Duran M, van Sprang FJ, Drewes JG, Bruinvis L, Ketting D, Wadman SK.

Abstract

Two sisters with isovaleric acidaemia are described. Both had multiple attacks of acetonaemic vomiting, sometimes leading to subcoma. Despite this they showed a completely normal mental development. Biochemical studies, clinical follow-up and attempts at treatment are presented.

PMID:: 477679; [PubMed - indexed for MEDLINE]

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Isovaleric acidaemia in two South African children. [S Afr Med J. 1977]
Isovaleric acidaemia in two South African children.
Malan C, Neethling AC, Shanley BC, Gompertz D, Bartlett K, Schraader EB. S Afr Med J. 1977 Jun 25; 51(26):980-3.
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[Isovaleric acidemia].
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[Serum isovaleric acid in a young infant].
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Review [Congenital metabolic acidosis in the postnatal period].
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Cited by 1 PubMed Central article

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia. [Orphanet J Rare Dis. 2012]
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Grünert SC, Wendel U, Lindner M, Leichsenring M, Schwab KO, Vockley J, Lehnert W, Ensenauer R. Orphanet J Rare Dis. 2012 Jan 25; 7:9. Epub 2012 Jan 25.

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