Buscar
Mostrando ítems 11-20 de 381
IMPAIRED SULFATED GLYCOSAMINOGLYCAN METABOLISM IN A PATIENT WITH GM-2 GANGLIOSIDOSIS (TAY-SACHS DISEASE)
(Kluwer Academic Publ, 2014)
IMPAIRED SULFATED GLYCOSAMINOGLYCAN METABOLISM in A PATIENT WITH GM-2 GANGLIOSIDOSIS (TAY-SACHS DISEASE)
(Kluwer Academic Publ, 1990-01-01)
Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia
(SPRINGER/PLENUM PUBLISHERS, 2011)
Methylmalonic acidemia is one of the most prevalent inherited metabolic disorders involving neurological deficits. In vitro experiments, animal model studies and tissue analyses from human patients suggest extensive ...
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 ...
Guía clínica: consenso para Chile en enfermedad de Fabry
(2012)
Fabry's disease is an X-linked recessive inborn error of metabolism of glycosphingolipids, caused by the deficiency of the lisosomal enzyme alpha-galactosidase. It is a rare disease with an estimated incidence rate of ...
Pathogenesis of preeclampsia: The genetic component
(2012)
Preeclampsia (PE) is one of the main causes of maternal and fetal morbidity and mortality in the world, causing nearly 40% of births delivered before 35 weeks of gestation. PE begins with inadequate trophoblast invasion ...
A novel mutation in a Brazilian patient with glycogen storage disease type 1a
(Kluwer Academic PublDordrechtHolanda, 1998)
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease
(Kluwer Academic Publ, 2002-11-01)
Canavan disease, an inherited leukodystrophy, is caused by mutations in the aspartoacylase (ASPA) gene. It is most common among children of Ashkenazi Jewish descent but has been diagnosed in many diverse ethnic groups. Two ...
Diazoxide protects against methylmalonate-induced neuronal toxicity
(Academic Press Inc Elsevier ScienceSan DiegoEUA, 2006)
Molecular basis of various forms of maple syrup urine disease in chilean patients
(Wiley, 2021)
Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched-chain alpha-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a ...