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J Inherit Metab Dis. 2002 Sep;25(5):411-2.

Cytochrome oxidase deficiency in Lowe syndrome.

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1
Metabolic Unit, Great Ormond Street Hospital for Children, London, UK.

Abstract

We report on a patient with complex IV deficiency who in later clinical course was diagnosed as a Lowe syndrome. Mitochondrial abnormalities can be present in Lowe syndrome and might lead to misdiagnosis, additionally because clinical features can be overlapping.

PMID:
12408191
[Indexed for MEDLINE]
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