fumarase/spasm

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NakalaMajaribio ya klinikiHati miliki

Chagua aina ya aina

2 matokeo

Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero.

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Ingia / Ingia

A family having two boys with progressive encephalomyopathy and fumaric aciduria due to fumarase deficiency is described. Both patients initially presented with polyhydramnios and enlarged cerebral ventricles in utero, with subsequent cerebral atrophy, severe developmental delay, infantile spasms,

Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Fumarate hydratase deficiency (FHD) is a rare metabolic disease caused by two defective copies of the FH gene, which encodes the Krebs cycle enzyme fumarase. FHD is associated with brain and developmental abnormalities, seizures, and high childhood mortality. We describe the symptoms and treatment

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Herbal & Natural Medicine

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