METABOLIC AND ENDOCRINE DISORDERS IN CARBOHYDRATE DEFICIENT GLYCOPROTEIN SYNDROME
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چکیده
منابع مشابه
Endocrine and metabolic disorders in β -thalassemia major patients
Background: Thalassemia is the most common hereditary anemia and beta thalassemia major is its most severe form. Endocrine abnormalities in thalassemia major are common disturbing complications that need prompt management. The purpose of this study was to determine the endocrine disorders and bone mineral density in patients with major -thalassemia in Qazvin, Iran. Methods: In this cross- sect...
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A new group of recessively inherited metabolic disorders affecting glycoprotein metabolism has been identified--the carbohydrate-deficient-glycoprotein (CDG) syndromes. Here the course and clinical expression of CDG syndrome type I in 13 patients who have passed the age of 15 years are described. All presented with early onset psychomotor retardation, in most cases combined with slight facial d...
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A 3 week old boy presented with abnormal thyroid function, and was treated with thyroxine. He developed multisystem disease including deafness and nephrotic syndrome, and died aged 3 months. Carbohydrate deficient glycoprotein syndrome (CDGS) was diagnosed post-mortem. CDGS should be considered in all infants with apparently unrelated multiple clinical or biochemical abnormalities.
متن کاملClassic diseases revisited Carbohydrate-deficient glycoprotein syndromes
Four types of carbohydratedeficient glycoprotein syndrome have been described, and the cause of two of them has been found. The symptoms and signs of these syndromes are described, with variations that occur at different ages. The commonest is type Ia with an autosomal recessive form of inheritance, and the gene responsible has been mapped to 16p. The typical pathology is atrophy of the cerebel...
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of conglutinin and immunoconglutinins are provided by the late D. G. Ingram. Characterization of these serum factors (conglutinins of normal bovine serum and immunoconglutinin antibodies produced in many mammal ian species following antigen stimulation) that interact with adsorbed complement components, their role in immune reactions and their use as serological tools are competently dealt with...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1993
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199305001-00457