Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Autor: Cerbino, G. N., Assali, L. Abou, Varela, L. S., Tomassi, L., Batlle, A., Parera, V. E., Rossetti, M. V.

Publikováno v: Case Reports in Genetics.

Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates. Porphyria cutanea tarda (PCT) is th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=hindawi_publ::4cc4f942ced890013db7ae9a92440bfa

CONVOLVULACEAE JUSS.

Autor: Duplancic, Andrea, Parera, V., Martínez Carretero, E.

Publikováno v: Multequina: Latin American Journal of Natural Resources. 2016, Vol. 25, pFU5-FU9. 5p.

Acute porphyrias in the Argentinean population: a review

Autor: Parera, V. E., Adriana De Siervi, Varela, L., Rossetti, M. V., Batlle, A. M.

Publikováno v: Cell. Mol. Biol. (Noisy-le-grand) 2003;49(4):493-500
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Universidad Nacional de Buenos Aires. Facultad de Ciencias Exactas y Naturales
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The porphyrias are a group of inherited metabolic disorders of heme biosynthesis which result from a partial deficiency in one of its seven specific enzymes, after its first and rate limiting enzyme, delta-aminolevulinic acid synthetase. They can be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f5ee32afcd121660820aac74ec3d8e52

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