منابع مشابه
Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.
Methylmalonic aciduria and homocystinuria, cblC type, is the most common disorder of intracellular vitamin B12 (cobalamin, cbl) metabolism, which results in impaired biosynthesis of methylcobalamin and adenosylcobalamin. The gene MMACHC responsible for the cblC type had been identified, which enables molecular diagnostics. Here, we report four cblC type cases, which were identified by the typic...
متن کاملPRIMARY HYPER OXALURIA: REPORT OF FOUR CASES AND REVIEW OF THE LITERATURE
In this paper we will present four cases of primary hyperoxaluria. All patients had a significant past medical history of polyuria (with or without microscopic hematuria) and polydypsia. All patients had a family history of their parents being cousins. Initial evaluation of all patients by ultrasound and plain abdominal films revealed nephrocalcinosis. Their clinical courses showed gradual ...
متن کاملReport of Four Cases of Osteogenesis
Four cases of osteogenesis imperfecta along with clinical and laboratory studies were reported. Autosomal dominant pattern of transmission was most pro - bable in the first case owing to the fact that all members of the family showed blue sebera,two third was affected with various fractures and one forth suffered with deafness. Recessive abnormal trait probably due to new mutation was the c...
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Four cases of polyarthritis concomitant with active tuberculosis is reported. In three patients pulmonary tuberculosis was confirmed by identification of Mycobacterium tuberculosis in the sputum and bronchoalveolar lavage specimens, and in another one tuberculous lymphadenitis was confirmed by excisional biopsy. In all patients arthritis resolved by tuberculosis treatment and did not recur ...
متن کاملCongenital Rickets: Report of Four Cases
Introduction: Vitamin D deficiency and rickets continue to be health problems in developing countries and most of the infants with congenital rickets may present with hypocalcemic seizure. Case Report: In this article, the report on four infants who presented with hypocalcemic seizures but subsequently were found to have congenital rickets is presented. All of them had hypocalcaemia and low l...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1971
ISSN: 0007-1161
DOI: 10.1136/bjo.55.5.338