منابع مشابه
the laboratory diagnosis of inherited metabolic disorders
diagnosing inherited metabolic disorders is a joint effort of both clinical and laboratory disciplines. various aspects of metabolite, enzyme and mutation analysis will be discussed based on the experience of the metabolic section of the erasmus university medical centre. where should laboratory diagnosis start from? metabolite, enzyme or dna level? the emphasis will be on enzyme analysis of th...
متن کاملInherited Disorders of the Hair
Acanthosis nigricans – an ill-defined, velvety, hyperpigmented plaque involving the fold of the skin, including the axilla, neck and groin Atrichia – absence of hair Atrophoderma – atrophy of the skin Blepharitis – inflammation of the eyelids Cicatricial alopecia – scarring alopecia Copy number variations – DNA segments with 1 kb or more of gains or losses Corneodesmosin – a protein found in co...
متن کاملEvaluation the dentists’ awareness of inherited bleeding disorders and anticoagulants in Shiraz
Background Some of the dental procedures can cause bleeding. Bleeding control can be difficult in some patients because of systemic disease or chronic anticoagulant therapy, so they may be at increased risk for bleeding occurrences or even death following invasive dental procedures. This study was schemed to measure the knowledge of general dentists in Shiraz city regarding coagulation tests ...
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...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1978
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.53.12.970-a