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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 ...
Hypokalemic Distal Renal Tubular Acidosis
(W B Saunders Co-Elsevier Inc, 2018-07)
Distal renal tubular acidosis (DRTA) is defined as hyperchloremic, non-anion gap metabolic acidosis with impaired urinary acid excretion in the presence of a normal or moderately reduced glomerular filtration rate. Failure ...
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 ...
Lesch-Nyhan disease in two families from Chiloe island with mutations in the HPRT1 gene
(Taylor & Francis, 2017)
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report two independent ...
Porfirias agudas.
(Asociación Médica del Centro Médico ABC (American British Cowdray), 2004)
Potential diagnostic of Branched-Chain Ketoaciduria by HPLC-DAD
(Sociedade Brasileira de Química, 2014-10-01)
A system of high performance liquid chromatography (HPLC) was used for the development and validation of efficient method for quantitative determination of three aminoacids involved in the inherited metabolic disease ...
Utility of rare disease registries in Latin America
There are many registries in Latin America as dialysis and kidney transplantation, breast cancer, primary immune deficiency, acute coronary syndromes, but the focus here are the registries of lysosomal storage diseases ...
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease
(Wiley Blackwell Publishing, Inc, 2018-12-07)
Lafora disease is an autosomal recessive disor-der that causes myoclonic epilepsy.The disease is char-acterized by the presence of polyglucosan inclusion bodies (Lafora bodies), predominantly in the central nervous sys-tem. ...
Pathological findings of post-anesthetic myopathy associated with type 1 polysaccharide storage myopathy in a percheron horse
(2018-01-01)
Background: Post-anesthetic myopathy is the most common complication associated with general anesthesia in horses. Polysaccharide storage myopathy (PSSM) is characterized by an abnormal accumulation of glycogen and ...