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Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency.

Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency presents with episodic fasting, hypoketotic hypoglycaemia, and coma. It is known to be potentially lethal, but the outlook for survivors is thought to be good. We reassessed all patients with MCAD deficiency diagnosed in New South Wales (p...

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Dettagli Bibliografici
Autori principali: Wilcken, B, Hammond, J, Silink, M
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1994
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1029830/
https://ncbi.nlm.nih.gov/pubmed/8017963
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