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Population and Computational Analysis of the MGEA6 P521A Variation as a Risk Factor for Familial Idiopathic Basal Ganglia Calcification (Fahr`s Disease)
(HUMANA PRESS INC, 2011)
Familial idiopathic basal ganglia calcification, also known as ""Fahr`s disease"" (FD), is a neuropsychiatric disorder with autosomal dominant pattern of inheritance and characterized by symmetric basal ganglia calcifications ...
Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease
(Academia Brasileira de Neurologia - ABNEURO, 2010-04-01)
Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid α-glucosidase (GAA) enzyme deficiency. Childhood and late-onset forms are described, differing by the age of ...
Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease
(Academia Brasileira de Neurologia - ABNEURO, 2010)
Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid α-glucosidase (GAA) enzyme deficiency. Childhood and late-onset forms are described, differing by the ...
Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008-11-01)
Maternally inherited diabetes and deafness (MIDD) has been related to an A to G transition in the mitochondrial tRNA Leu (UUR) gene at the base pair 3243. This subtype of diabetes is characterized by maternal transmission, ...
Genotypes of sickle cell disease
(2015)
CYP2C19 is a polymorphic enzyme that metabolizes a wide variety of therapeutic drugs that has been associated with altered enzymatic activity and adverse drug reactions. Differences in allele frequencies of the CYP2C19 ...
Hepatic metabolites and uric excretion in fructose -1,6- diphosphatase deficiency
(1988)
There have been a small number of patients reported with inherited disorders of
gluconeogenesis. We studied a female patient with fructose-1,6-diphosphatase
(FDPase; EC 3.1.3.11) deficiency (McKusick 22970), born of ...
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
(Springer, 2008-06-01)
Enzyme replacement was introduced as treatment for non-neuronopathic Gaucher disease more than 15 years ago. To ensure the best use of this costly ultra-orphan agent, a systematic disease management approach has been ...
Effects of volatile anaesthetics on heme metabolism in a murine genetic model of Acute Intermittent Porphyria: A comparative study with other porphyrinogenic drugs
(Elsevier Science, 2018-03)
Background: Acute Intermittent Porphyria (AIP) is an inherited disease produced by a deficiency of Porphobilinogen deaminase (PBG-D). The aim of this work was to evaluate the effects of Isoflurane and Sevoflurane on heme ...
Spondylocostal Dysostosis Associated with Methylmalonic Aciduria
(MARY ANN LIEBERT INC, 2009)
Spondylocostal dysostosis (SCD) is a genetic disorder characterized by vertebral segmentation and formation defects associated with changes of the ribs. Autosomal dominant and recessive modes of inheritance have been ...
Cistinosis nefropática: caso clínico que ilustra diagnóstico molecular
(Sociedad Médica de Santiago, 2018)
Nephropatic cystinosis (NC) is a rare disease associated with pathogenic variants in the CTNS gene, with a common variant that consists of a 57kb-deletion involving CTNS. Patients with NC that are treated with cysteamine ...