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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » » M » Metabolic Diseases/ urine

Metabolic Diseases/ urine

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1. Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management

This study examined the effects of treatment and the clinical outcome in patients with glutaric aciduria type 1 and to compare the outcome in patients diagnosed as a result of family screening or who were diagnosed after symptomatic presentation

Abstract:

AIMS: To study retrospectively the effects of treatment and the clinical outcome in 12 patients with glutaric aciduria type 1; and to compare the outcome in 6 patients diagnosed as a result of family screening with 6 patients who were diagnosed late after symptomatic presentation. SETTING: The National Centre for Inherited Metabolic Disorders, The Children's Hospital, Dublin, Ireland. more...

International Classification:

Endocrine, nutritional and metabolic diseases - Metabolic disorders - glutaric aciduria type 1

Categories:

glutaric aciduria type 1

Geography:

Republic of Ireland

Arch Dis Child, Vol: 82 Page: 67-70 January 2000
A. A. Monavari; E. R. Naughten

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