نتایج جستجو برای: hypophosphatasia
تعداد نتایج: 591 فیلتر نتایج به سال:
Osteomalacia is a condition characterised by failure of bone mineralisation. While abnormalities of vitamin D supply, metabolism or action are the most common and well-known causes, chronic phosphate deficiency, due to either insufficient input (intake or absorption) or renal losses are also important causes of rickets or osteomalacia.1 Hypophosphataemia also commonly co-exists with vitamin D d...
Background Hypophosphatasia(HPP), a rare, inherited metabolic disease featuring low serum alkaline phosphatase (ALP) activity due to ALPL (encoding tissue non-specific phosphatase) gene mutation [1,2] . A wide-ranging clinical spectrum is often seen defective mineralisation affecting teeth, bones, joints and muscles [1] This has prevalence of 1/6370 in Europe misdiagnosed underdiagnosed with di...
An 8-month-old girl who seemed certain to die from the infantile form of hypophosphatasia, an inborn error of metabolism characterized by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP), underwent the first trial of bone marrow cell transplantation for this heritable type of rickets. After cytoreduction, she was given T-cell-depleted, haplo-identical marr...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید