MULIBREY MANISM
نویسندگان
چکیده
منابع مشابه
Mulibrey Heart Disease
Background—Mulibrey nanism is a rare inherited disease characterized by growth failure and multiorgan manifestations, including constrictive pericarditis. Its long-term course, the results of pericardiectomy, and the details of myocardial involvement have not been reported previously. Methods and Results—We studied 49 patients (26 men) born before 1985 and followed for up to 25 years. By 1999, ...
متن کاملMulibrey nanism: clinical features and diagnostic criteria.
Mulibrey nanism (MUL) is an autosomal recessive disease caused by mutations in the TRIM37 gene encoding the peroxisomal TRIM37 protein of unknown function. In this work, we analysed the clinical characteristics of 85 Finnish patients with MUL, most of whom were homozygous for the Finn major mutation of TRIM37. The patients' hospital records from birth to the time of the diagnosis at age 0.02-52...
متن کاملReport of two Syrian siblings with Mulibrey nanism
Mulibrey (MUscle-LIver-BRain-EYe) nanism is a rare autosomal recessive disease characterized by growth failure, dysmorphic features and a wide range of abnormalities affecting multiple organ systems. This report is the first to present two cases of Mulibrey nanism affecting two siblings from Syria. Mulibrey nanism can be suspected clinically due to the distinctive features of the patients. The ...
متن کاملMULIBREY NANISM Characterization of Hypogonadism, Infertility and Tumors
6 LIST OF ORIGINAL PUBLICATIONS 8
متن کاملCardiac involvement in Mulibrey nanism: characterization with magnetic resonance imaging.
Mulibrey nanism (MUL) is an autosomal recessive disorder that is enriched in the Finnish population. Variable degrees of pericardial and myocardial involvement can lead to heart failure and premature death. The purpose of this study was using magnetic resonance imaging (MRI) to assess structural and functional abnormalities of the MUL cardiopathy in all four cardiac chambers as well as in the p...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1974
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197402000-00051