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Bone Diseases as the only clinical manifestation of gaucher disease type
(Sociedad Latinoamericana de Errores Innatos del Metabolismo y Pesquisa Neonatal, 2013)
Gaucher disease (GD) is a lysosomal disease, due to the deficiency of Iˆ2-glucosidase, characterized by invol vement of hematopoietic organs such as the spleen, liver, bone marrow, lung, and bone. Bone is the second most ...
Distribution of genetic polymorphisms associated to hepatitis c virus (HCV) antiviral response in a multiethnic and admixed population
(2013-09)
Single-nucleotide polymorphisms (SNPs) near IL28B and ITPA genes have been described as predictors of response to antiviral treatment and ribavirin induced-hemolytic anemia in HCV patients, respectively. The prevalence of ...
Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America
(2013)
The Neuronal Ceroid Lipofuscinoses (NCLs), inherited neurodegenerative disorders, are the second most frequent group lysosomal pathologies (LP) of childhood. They are characterized by the pathological accumulation of ...
Combined effects of obesity, alcohol and smoking habit on semen quality of 2483 men attending an andrology clinic
(IVIRMA Global, IVIRMA Global, 2013)
Several factors have been identified as detrimental for sperm physiology (i.e. tobacco, alcohol, obesity, endocrine disruptors, etc); however, none of them can justify seminal decline by itself.
Therefore, the objective ...
Genetic defects in the liver phosphorylase system in Argentine patients nosological definition through a strategy of enzimatic and molecular analysis
(Universidad Nacional de Córdoba. Facultad de Ciencias Médicas., 2013)
The phosphorylase and phosphorylase-b kinase (PHK) deficiencies in the liver constitute the phosphorylase system defects (PSD), leading to Glycogenosis Type VI (GSD-VI) and Type IX (GSD-IX), respectively. The hepatic ...
In vitro modifications on functional activity of mice sperm induced by the addition of ghrelinModificaciones inducidas in vitro por ghrelina sobre la actividad funcional espermática murina.
(Universidad Nacional de Córdoba. Facultad de Ciencias Médicas, 2013)
Ghrelin (Ghr) is a peptide that modulates reproductive physiology, linking reproduction with energy balance. The expression of the peptide and its receptor has been reported in testis, prostate and sperm; the presence of ...
Inefficient N2-like neutrophils are promoted by androgens during infection
(2018)
Neutrophils are major effectors of acute inflammation against infection and tissue damage, with ability to adapt their phenotype according to the microenvironment. Although sex hormones regulate adaptive immune cells, which ...
Nonsense mediated mRNA decay affects nonsense transcripts levelsand in vitro response to gentamicin and ataluren in X-ALD
(2013)
Background: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, characterized by increased concentrations of very long-chain fatty acids due to a defect in peroxisomal β-oxidation. ...
Downregulation of GLI1- dependent survival pathway underlies arachidonic acid antitumoral activity
(Argentine Society for biochemistry and molecular biology research, 2013)
Numerous studies have demonstrated a role for essential fatty acids (ePUFAs) during tumor evelopment. However, the molecularmechanism underlying this phenomenon remains elusive. Here, we defined a novel molecular mechanism ...
Intrahipotalamic ghrelin administration decreases sperm concentration and motility in mice
(Universidad Nacional de Córdoba, 2013)
Ghrelin (Ghr) is a peptide secreted primarily in the stomach and hypothalamus. However, Ghr and its receptors are synthesized also in many tissues of the reproductive tract. In situations of hiperghrelinemia (fasting or ...