Search Results - "Vakili, Saba"
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Effects of Trehalose Administration in Patients with Mucopolysaccharidosis Type III
Published in Current medicinal chemistry (01-01-2024)“…Mucopolysaccharidosis type III (MPS III) is a rare autosomal recessive lysosomal storage disease (LSD) caused by a deficiency of lysosomal enzymes required for…”
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A novel variant luteinizing hormone receptor in the first transmembrane helix of two homozygous Iranian patients: case report
Published in Egyptian Journal of Medical Human Genetics (09-05-2022)“…Background Leydig cell hypoplasia (LCH) is a rare autosomal recessive endocrine syndrome that affects the normal development of male external genitalia in 46,…”
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Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case
Published in Radiology case reports (01-05-2022)“…Meire-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by a triad of short stature, microtia, and absent or hypoplastic patella. We…”
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Relationship between anthropometric indices and arterial stiffness: Insights from an epidemiologic study
Published in Obesity science & practice (01-08-2022)“…Background Obesity and arteriosclerosis are both independently associated with cardiovascular disease risk. Obesity also may increase arterial stiffness. Aims…”
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Role of miRNA gene variants in the susceptibility and pharmacogenetics of colorectal cancer
Published in Pharmacogenomics (01-04-2021)“…Colorectal cancer (CRC) is one of the most significant challenges in the field of cancer pathology. miRNAs are among the genetic factors associated with the…”
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The Effect of Curcumin Supplementation on Pulse Wave Velocity in Patients with Metabolic Syndrome: A Randomized, Double-Blind, Placebo-Controlled Trial
Published in Advances in experimental medicine and biology (01-01-2021)“…Cardiovascular disease is a leading cause of death in many societies. Arterial stiffness is an initial sign of structural and functional changes in the…”
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Wolcott-Rallison syndrome in Iran: a common cause of neonatal diabetes
Published in Journal of pediatric endocrinology & metabolism : JPEM (26-06-2019)“…Background Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal/early-onset non-autoimmune insulin-dependent diabetes,…”
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Prevention of Ischemia-Reperfusion Injury in Human Kidney Transplantation: A Meta-Analysis of Randomized Controlled Trials
Published in Nephro-urology monthly (25-03-2020)Get full text
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Hematological and Biochemical Parameters Associated with Mortality in COVID-19 Infection and Their Correlation with Smoking
Published in Patient safety & quality improvement journal (01-01-2021)“…Introduction: Coronavirus disease 2019 (COVID-19) initially appeared in China, in December 2019 and has already evolved into a pandemic spreading rapidly…”
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Impact of Intravenous Trehalose Administration in Patients with Niemann-Pick Disease Types A and B
Published in Journal of clinical medicine (04-01-2022)“…Niemann-Pick disease (NPD) types A (NPA) and B (NPB) are caused by deficiency of the acid sphingomyelinase enzyme, which is encoded by the gene, resulting in…”
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Thyroxin-binding globulin deficiency in a boy with fragile X syndrome: a case report
Published in Reviews in clinical medicine (01-11-2016)“…Fragile X syndrome (FXS) is the most common known genetic cause of male intellectual disability. A wide variety of medical problems has been reported in FXS…”
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