Publications by authors named "Ricardo Flores Pires"

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha galactosidase A gene (GLA) that lead to the enzymatic deficiency of alpha galactosidase (α-Gal A), resulting in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), causing multiple organ dysfunctions.

Objective: To perform GLA gene screening in a group of patients with echocardiographic diagnosis of hypertrophic cardiomyopathy (HCM).

Methods: a cross-sectional study was conducted with HCM patients from a university hospital.

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Background: The gas chromatography/mass spectrometry (GC/MS) method for organic acid analysis was established in developed countries since 1980s, but due to the small number of experienced clinical biochemists in this field and also the short availability of mass spectrometers scarce reports exist on the prevalence of organic acidemias (OAs) in developing countries like Brazil.

Methods: During January 1994 to July 2008, we analyzed organic acids by GC/MS in urine specimens obtained from Brazilian children with clinical suspicion of metabolic diseases.

Results: Two hundred and thirty four cases of disorders of organic acid metabolism, including 218 OAs (3.

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Background: Gaucher's disease (GD) is a disorder caused by the deficiency of lysosomal beta-glucosidase, an enzyme that participates in the degradation of glycosphingolipids. Deficiency of this enzyme results in the storage of glucocerebrosides in lysosomes of macrophage. No studies are available in the literature comparing biochemical and kinetic behavior of this enzyme in leukocytes and fibroblasts from normal individuals, obligate heterozygotes and patients with GD.

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