GGPS1Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome
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چکیده
منابع مشابه
ANTIPHOSPHOLIPID ANTIBODY SYNDROME-A CASE OF AORTIC VALVE INSUFFICIENCY
A 31 year old woman was hospitalized for evaluation of aortic valve insufficiency and her present cardiac status. Clinical and paraclinical findings strongly suggested the presence of a collagen vascular inflammatory processprecisely, the antiphospholipid antibody syndrome (APS), with systemic lupus erythematosus as the underlying disease.
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Primary adrenal insufficiency is life threatening and can present alone or in combination with other comorbidities. Here, we have described a primary adrenal insufficiency syndrome and steroid-resistant nephrotic syndrome caused by loss-of-function mutations in sphingosine-1-phosphate lyase (SGPL1). SGPL1 executes the final decisive step of the sphingolipid breakdown pathway, mediating the irre...
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conclusions getting a complete knowledge of the condition and evaluating different treatment modalities to treat thoracic insufficiency syndrome. results a direct enlargement of the thorax that will thus provide sufficient space for lung growth; the correction of both the three-dimensional thoracic deformity and the progressive scoliosis. recent findings have revealed that veptr instrumentation...
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Until recently, lactic acid accumulation and the acidosis resulting from it were believed to be the cause of muscular fatigue in most athletic events. However, some early pieces of research that supported this contention suffered from a flaw in design. They were conducted with excised muscle fibers that were cooled below body temperature. More recent studies have demonstrated little or no effec...
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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 2020
ISSN: 0364-5134,1531-8249
DOI: 10.1002/ana.25772