Porphyria and implication of molecular diagnosis
نویسندگان
چکیده
منابع مشابه
Porphyria — Classification and Diagnosis
Porphyrias are a group of metabolic disorders, at the bottom of which lies a disturbance in the synthesis of the heme. Thereby, in most cases it is about a hereditary enzyme defect. The disease patterns differ depending on the affected enzyme; one clinically differentiates between acute and non-acute forms. In particular, a physician should also be aware of the two most common forms of overall ...
متن کاملPorphyria — Classification and Diagnosis
Porphyrias are a group of metabolic disorders, at the bottom of which lies a disturbance in the synthesis of the heme. Thereby, in most cases it is about a hereditary enzyme defect. The disease patterns differ depending on the affected enzyme; one clinically differentiates between acute and non-acute forms. In particular, a physician should also be aware of the two most common forms of overall ...
متن کاملMolecular Diagnosis of Familial Hypercholesterolemia
Abstract Background and objectives: Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been associated with increased risk of coronary heart disease and premature death. The mutation in LDLR gene in most cases is responsible for FH phenotype. Furthermore, other ...
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گل محمدی (r. damascena mill.)مهمترین گونه ای است که در تولید گلاب، عطر و اسانس، در صنعت عطرسازی و دارویی کاربرد دارد. با وجود اهمیت عطر گل محمدی، پژوهش های مولکولی و بیوشیمیایی عطر گل این گونه هنوز در مراحل ابتدایی است. در این پژوهش، ویژگی های مولکولی و فیزیولوژیکی تولید عطر در گل محمدی در آزمایش های مختلف مورد بررسی قرار گرفتند. در آزمایش اول، پژوهشی به منظور بررسی تنوع شیمیایی اسانس میان 44 ت...
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ژورنال
عنوان ژورنال: Pediatric Hematology Oncology Journal
سال: 2016
ISSN: 2468-1245
DOI: 10.1016/j.phoj.2016.07.001