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Mostrando ítems 81-90 de 280
O tratamento da doença de Gaucher no Sistema Único de Saúde: o caso do Rio de Janeiro
(Instituto Fernandes Figueira, 2014)
Twenty Years of Neonatal Screening for Sickle Cell Disease in Brazil: The Challenges of a Continental Country with High Genetic Heterogeneity
(Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT), 2021-06-14)
Sickle cell disease (SCD) is the most common inherited hematological disease worldwide. The benefits of diagnosis and early intervention have led to the wide dissemination of public health programs worldwide. Through ...
Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives
(Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT), 2022-03-07)
Research on the genetics, epidemiology, and clinical manifestations of Fabry disease (FD) has increased significantly in recent years. However, some relevant clinical questions still need to be answered to develop better ...
High cognitive outcome in an adolescent with mut(-) methylmalonic acidemia
(WILEY-LISS, 2000)
Methylmalonic acidemia is an inborn error of metabolism known to be a cause of ketoacidosis and mental retardation. The less severe mut(-) form of the disorder, however, has been described with only mild to moderate cognitive ...
Secondary psychosis induced by metabolic disorders
(2015)
Metabolic disorders are not well recognized by psychiatrists as a possible source of secondary psychoses. Inborn errors of metabolism (IEMs) are not frequent. Although their prompt diagnosis may lead to suitable treatments. ...
Mitochondrial translation in health and disease
(SciResDelaware, 2013)
Mitochondrial disorders have become the most common cause of inborn errors of metabolism. Impairments in mitochondrial protein synthesis are one of the causes of these diseases, which are clinically and genetically ...
Position of Experts Regarding Follow-Up of Patients with Neuronal Ceroid Lipofuscinosis-2 Disease in Latin America
(Latin American Society Inborn Errors and Neonatal Screening, 2020)
Kelley-Seegmiller Syndrome: Urolithiasis, Renal Uric Acid Deposits, and Gout: What is the Role of the Urologist?
Kelley-Seegmiller syndrome (KSS) is a disorder that occurs when there is a partial deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase. It is involved in the metabolism of purines, clinically manifesting ...
Application of Tandemmass Spectrometry to Neonatal Screening for Inherited Disorders of Intermediary Metabolism.
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)
This review is intended to serve as a practical guide for geneticists to
current applications of tandem mass spectrometry to newborn screening. By making
dried-blood spot analysis more sensitive, specific, reliable, and ...