2 documents found, page 1 of 1
Severe hereditary spherocytosis and distal renal tubular acidosis associated wi...
Ribeiro, ML; Alliosio, N; Almeida, H; Gomes, C; Texier, P; Lemos, C; Mimoso, G; Morlé, L; Bey-Cabet, F; Rudigoz, RC; Delaunay, J; Tamagnini, GAbsence of band 3, associated with the mutation Coimbra (V488M) in the homozygous state, caused severe hereditary spherocytosis in a young child. Although prenatal testing was made available to the parents, it was declined. Because the fetus stopped moving near term, an emergency cesarean section was performed and a severely anemic, hydropic female baby was delivered. She was resuscitated and initially kept ali...
Type-II dyserythropoietic anemia. A partial form of the glycoprotein degradatio...
Marques, J M; Tamagnini, G; Humberto, JThe authors present a case of a boy, aged 8 years and 11 months, yellow race, with dyserythropoietic anemia type II, diagnosed at two months of age. Screening for partial form of carbohydrate deficient glycoprotein syndrome was normal. This result did not confirm the publication by Fukuda in 1990.; The authors present a case of a boy, aged 8 years and 11 months, yellow race, with dyserythropoietic anemia type I...