Buscar
Mostrando ítems 1-10 de 249
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)
Electrospray tandem mass spectrometry was applied to detect a series of inherited metabolic disorders during a
newborn-screening pilot study and a selective screening in Japan. In our mass screening of 102 200 newborns, ...
Metabolic Features Across the Female Life Span in Women with PCOS
(2016)
Polycystic ovary syndrome (PCOS) is a highly prevalent endocrine metabolic disorder and is presently considered a family pathology. It is associated with obesity, insulin resistance and metabolic syndrome. Racial, ethnic ...
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 ...
Inborn errors of metabolism: a clinical overview
(Associação Paulista de Medicina - APM, 1999-11-04)
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins. OBJECTIVES: ...
Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause
(Associação Paulista de Medicina - APM, 2001-09-06)
CONTEXT: Inborn Errors of Metabolism are hereditary affections resulting from incompetence in enzymatic reactions of intermediary metabolism. At present, several hundred hereditary metabolic disturbances are known, many ...
Urea cycle disorders in Argentine patients: Clinical presentation, biochemical and genetic findings
(BioMed Central, 2019-08)
The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles of UCD patients ...
Investigation of inborn errors of metabolismInvestigação de erros inatos do metabolismo
(HCPA/FAMED/UFRGS, 2022)
Lactate dehydrogenase activity is inhibited by methylmalonate in vitro
(Springer/plenum PublishersNew YorkEUA, 2006)
A validated disease severity scoring system for adults with type 1 Gaucher disease
(Lippincott Williams & Wilkins, 2010-01-01)
Purpose: A validated disease severity scoring system (DS3) for Gaucher disease type 1 (GD1) is needed to standardize patient monitoring and to define patient cohorts in clinical studies. Methods: DS3 domains were established ...