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Position statement of Polish Cardiac Society experts on cardiomyopathy.
Kardiol Pol
November 2024
Department of Heart Failure and Transplantology, National Institute of Cardiology, Warszawa, Poland.
Cardiomyopathies (CMs) are a very broad group of diseases, including genetically determined and acquired, and their classification is based on phenotypic characteristics. There is always a need to search for the etiology (often also to try to identify the genetic cause), which may determine the appropriate choice of clinical management. The geographical distribution of genetic variants varies as does the prevalence across populations, ethnic groups, regions, and countries.
View Article and Find Full Text PDFCausal effects of genetically determined metabolites and metabolite ratios on esophageal diseases: a two-sample Mendelian randomization study.
BMC Gastroenterol
September 2024
Department of Laboratory Medicine, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, P. R. China.
Background: Esophageal diseases (ED) are a kind of common diseases of upper digestive tract. Previous studies have proved that metabolic disorders are closely related to the occurrence and development of ED. However, there is a lack of evidence for causal relationships between metabolites and ED, as well as between metabolite ratios representing enzyme activities and ED.
View Article and Find Full Text PDFLate Relapse in Genetically Determined Infantile Myofibromatosis. A Case Report and Brief Focus on Recurrences.
J Pediatr Hematol Oncol
October 2024
Oncology Unit, IRCCS Giannina Gaslini, Genoa.
Background: Infantile myofibromatosis (IM) is a rare disorder characterized by benign tumors in the skin, subcutaneous tissue, muscle, and occasionally viscera. IM can be hereditary due to PDGFRB or NOTCH3 variants. Treatment is mainly conservative or surgical.
View Article and Find Full Text PDFImmunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis.
Pediatr Nephrol
December 2024
Department of General Pediatrics, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany.
Background: Nephronophthisis (NPH) comprises a heterogeneous group of inherited renal ciliopathies clinically characterized by progressive kidney failure. So far, definite diagnosis is based on molecular testing only. Here, we studied the feasibility of NPHP1 and NPHP4 immunostaining of nasal epithelial cells to secure and accelerate the diagnosis of NPH.
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