Search Results - "Pais, R.P"

A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene by Costa, C, Oliveira, J, Gonçalves, A, Santos, R, Bronze-da-Rocha, E, Rebelo, O, Pais, R.P, Fineza, I

“…Abstract Fukuyama congenital muscular dystrophy (FCMD) is one of the most common autosomal recessive diseases among the Japanese population, due to a founder…”
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Brain MRI Findings as an Important Diagnostic Clue in Glutaric Aciduria Type 1 by Nunes, J., Loureiro, S., Carvalho, S., Pais, R.P., Alfaiate, C., Faria, A., Garcia, P., Diogo, L.

“…Glutaric aciduria type 1 is an autosomal recessive disorder caused by deficiency of glutaryl-coenzyme A dehydrogenase, with accumulation of glutaric acid,…”
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Superficial Siderosis of the Central Nervous System by Nunes, J., Gomes, B.C., Veiga, R., Pais, R.P., Garcia, M.T.

“…Superficial siderosis of the central nervous system (CNS) is a rare entity characterized by the deposition of hemosiderin in the leptomeninges. In most cases…”
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