منابع مشابه
Keratinization and its disorders.
Keratins are a diverse group of structural proteins that form the intermediate filament network responsible for maintaining the structural integrity of keratinocytes. In humans, there are around 30 keratin families divided into two groups, namely, acidic and basic keratins, which are arranged in pairs. They are expressed in a highly specific pattern related to the epithelial type and stage of c...
متن کاملRecessively inherited coagulation disorders.
Deficiencies of coagulation factors other than factor VIII and factor IX that cause bleeding disorders are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500 000 and 1 in 2 million for the homozygous forms. As a consequence of the rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecu...
متن کاملInherited hyperuricemic disorders.
Inherited hyperuricemic disorders fall into two major classes, metabolic overproduction of purines and renal tubular undersecretion. The aim was to explore both. Methodology was a combination of personal experience and review of relevant literature. The overproduction of hyperuricemias result from deficiency of hypoxanthine-guanine phosphoribosyl transferase, overactivity of phosphoribosylpyrop...
متن کاملInherited platelet disorders.
The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. They are, however, fascinating abnormalities, which have taught us a great deal about normal platelet biochemistry and physiology. In this section of the presentation we will review disorders of the platelet membrane, platelet granule packaging disorders, the ...
متن کاملInherited thrombophilic disorders
Inherited thrombophilia is thought to increase the risk of pregnancy related venous thromboembolism (VTE), including deep vein thrombosis (DVT) and pulmonary embolism (PE). Pregnancy is a hypercoagulable state due to the increased concentration of coagulation factors, decreased natural anticoagulants and fibrinolytic activity1. The pregnant woman is therefore at increased risk for VTE and this ...
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ژورنال
عنوان ژورنال: Turkderm
سال: 2011
ISSN: 1019-214X
DOI: 10.4274/turkderm.45.s13