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Mostrando ítems 1-10 de 17
Continuous venovenous hemofiltration in neonates with hyperammonemia. A case series
(2018)
Introduction: Neonatal hyperammonemia secondary due to inborn errors of metabolism is a rare condition with a high rate of neurological sequelae and mortality. Initial medical management is often insufficient to stop the ...
Dificuldades no diagnostico e manejo da acidemia metilmalônica - relato de caso sugestivoDifficulties in diagnosis and treatment of methylmalonic aciduria - suggestive case report
(Sociedade de Pediatria do Estado do Rio de Janeiro, 2015)
Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency
(ACADEMIC PRESS INC ELSEVIER SCIENCE, 2013)
Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency
(ACADEMIC PRESS INC ELSEVIER SCIENCE, 2013)
Causas del hidrops fetal: experiencia en un hospital obstétrico del Occidente de MéxicoEtiology of fetal hydrops: experience in an obstetric hospital in western Mexico
(Federación Mexicana de Colegios de Obstetricia y Ginecología, A.C., 2023)
Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil
(Sociedade Brasileira de Genética, 2013)
Uso de Hemofiltración veno-venosa continua en neonatos con hiperamonemia. Serie clínica
(Sociedad Chilena de Pediatría, 2018)
INTRODUCTION: Neonatal hyperammonemia secondary due to inborn errors of metabolism is a rare condition with a high rate of neurological sequelae and mortality. Initial medical management is often insufficient to stop the ...
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency
(2020)
Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated three novel patients, including the first known adult, from unrelated ...