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coproporphyrin/kutapika

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NakalaMajaribio ya klinikiHati miliki
2 matokeo

Aminolaevulinate dehydratase porphyria in infancy. A clinical and biochemical study.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Homozygous deficiency of aminolaevulinate dehydratase (porphobilinogen synthase, EC 4.2.1.24) was diagnosed in a small child. The clinical presentation was unique since severe symptoms were already present in the neonatal period. The patient, a boy, now three-years old, had recurrent attacks of

Hereditary coproporphyria. Demonstration of the abnormalities in haem biosynthesis in peripheral blood.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Hereditary coproporphyria is biochemically distinct from the other porphyrias and is characterized by excessive excretion of coproporphyrin in faeces and usually in urine. The laboratory findings in 28 patients with this disease are presented and the clinical details of eight patients who have been
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