نتایج جستجو برای: hereditary enzymopathy
تعداد نتایج: 84335 فیلتر نتایج به سال:
Let $C$ be a semidualizing module. We first investigate the properties of finitely generated $G_C$-projective modules. Then, relative to $C$, we introduce and study the rings over which every submodule of a projective (flat) module is $G_C$-projective (flat), which we call $C$-Gorenstein (semi)hereditary rings. It is proved that every $C$-Gorenstein hereditary ring is both cohe...
symptomatic mullerian duct cysts are uncommon. a young adult male presented to us with a palpable supra-pubic mass, pain and lower urinary tract symptoms. initial imaging modalities showed a large cystic lesion in the pelvis with a non-visualized right kidney. a short, blind ending right ureter on retrograde pyelography added to the confusion. on exploration, the lesion was noted to be separate...
BACKGROUND AND OBJECTIVES Glucose 6-phosphate dehydrogenase (G6PD) deficiency is a relatively common enzymopathy, but there are few publications relating such condition to anesthesia. This report aimed at presenting a case of a G6PD-deficient patient, submitted to Achilles tendon tenotomy under intravenous anesthesia associated to spinal block. CASE REPORT Male patient, 9 years old, 48 kg, wi...
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked enzymopathy that affects hundreds of millions of people worldwide, conferring increased risk of neonatal jaundice and oxidant-induced hemolytic anemia. Screening and diagnosis of G6PD deficiency is currently performed using genetic or biochemical assays, the former being cost ineffective in populations with significant allelic h...
BACKGROUND G6PD deficiency is the most common enzymopathy of red blood cells. The clinical symptoms of favism are jaundice, hematuria and haemolytic anaemia that seem to affect liver and kidney in long term. Thus we evaluate kidney and liver function of favism patients in an endemic area of the disease with a high rate of fava beans cultivation. METHODS This study was performed on favism pati...
Triose phosphate isomerase (TPI) deficiency glycolytic enzymopathy is a progressive neurodegenerative condition that remains poorly understood. The disease is caused exclusively by specific missense mutations affecting the TPI protein and clinically features hemolytic anemia, adult-onset neurological impairment, degeneration, and reduced longevity. TPI has a well-characterized role in glycolysi...
thrombophilia increases the incidence of pulmonary thrombosis significantly. various hereditary and acquired factors are known for thromboembolism. the hereditary factors are two common genetic autosomal mutations including factor v leidan mutation and prothrombin gene mutation. a descriptive- analytical design was conducted on 60 patients with thromboembolism who met the inclusion criteria. tw...
there are few reports about congenital indifference to pain or hereditary and sensory autonomic neuropathy (hsan). several investigations for pathophysiology of this syndrome have been performed and different classifications about it. in this report we present a case of hsan type ii with general absence of pain and self amputations and leprosy–like damage of extremities which was suspected to b...
objective(s) despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the gjb2 gene. we aimed to characterize the mutation profiles of 100 iranian deaf patients that were under 10 years old. materials and methods patients were tested with direct sequencing of entire coding region of the gjb2 gene. results eight known mutations plus...
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