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170  Articles
1 of 17 pages  |  10  records  |  more records»
High plasma cholesterol levels constitute a major risk factor for coronary heart diseases. In this study, we compared the response to dietary hypercholesterolemia with respect to plasma lipids levels in male and female Kurosawa-Kusanagi hypercholesterolem... see more

Objective: Primary microcephaly (MCPH) is a rare autosomal recessive disorder characterized by impaired congenital reduction of brain size along with head circumference and intellectual disability. MCPH is a heterogeneous disorder and more than twenty fou... see more

 
Haemoglobin H (Hb H) disease presented as moderate to severe anaemia and commonly occurs in the form of deletional Hb H. An eleven years old, Chinese girl and her mother’s (a Papua New Guinea ethnicity) samples were referred to Institute for Med... see more

Loss-of-function mutations in the SCN5A gene, encoding the cardiac Nav1.5 sodium channel, have been previously associated with Brugada syndrome (BrS). Despite the low prevalence of the disease, we identified a patient carrying two SCN5A mutations. We aime... see more

Haemoglobin E (Hb E) is a variant of structurally abnormal haemoglobin that can be found very commonly in the Asian countries particularly the Southeast Asian [1]. [H1] Alpha thalassaemia is a red cell disorder which is caused by deletion or mutation... see more

Gitelman syndrome (GS) is an inherited salt-wasting tubulopathy characterized by hypocalciuria, hypokalemia, hypomagnesemia and metabolic alkalosis, due to inactivating mutations in the SLC12A3 gene. Symptoms may be systemic, neurological, cardiovascular,... see more

BackgroundIneffective erythropoiesis and multiple blood transfusions may cause iron overload, leading to high level of ferritin in ß-thalassemia patients. Iron has the ability to catalyze the production of reactive oxygen species (ROS), which can be preve... see more

Lipoid proteinosis is a rare multisystem genodermatosis inherited as autosomal recessive trait. We report a case of lipoid proteinosis in a 10-year-old boy born to first-degree consanguineous parents presented with marked hoarseness of voice, accelerated ... see more

Objective: To identify genetic causes of Shabbir syndrome in two patients of Pakistani origin.Methods: In the present study, we have investigated a Pakistani family with two affected members segregating Laryngo-onycho-cutaneous (LOC) syndrome. The patient... see more

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