نتایج جستجو برای: hypophosphatasia
تعداد نتایج: 591 فیلتر نتایج به سال:
Background Hypophosphatasia (HPP) is a rare disease caused by mutations of the ALPL gene leading to reduced activity tissue non-specific alkaline phosphatase (AP). HPP can mimic other diseases clinically and be overseen, misdiagnosed or in worst-case inadequately treated. Objectives To identify patients with high likelihood HPP, explore frequency our rheumatologic outpatient clinic summarize cl...
Tissue-nonspecific alkaline phosphatase (TNAP) is one of the four isozymes in humans and mice that have the capacity to hydrolyze phosphate groups from a wide spectrum of physiological substrates. Among these, TNAP degrades substrates implicated in neurotransmission. Transgenic mice lacking TNAP activity display the characteristic skeletal and dental phenotype of infantile hypophosphatasia, as ...
PHOSPHO1 and tissue-nonspecific alkaline phosphatase (TNAP) have nonredundant functions during skeletal mineralization. Although TNAP deficiency (Alpl(-/-) mice) leads to hypophosphatasia, caused by accumulation of the mineralization inhibitor inorganic pyrophosphate (PPi ), comparably elevated levels of PPi in Phospho1(-/-) mice do not explain their stunted growth, spontaneous fractures, bowed...
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