AB1184 BONE MINERAL DENSITY, TRABECULAR BONE SCORE AND 3D-DXA ASSESSMENT IN ADULT PATIENTSWITH A POSITIVE AND NEGATIVE GENETICAL TESTING FOR HYPOPHOSPHATASIA [PDF]
, 2019 Carolina Tornero +8 more
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Langerhans cell histiocytosis: current concepts in dentistry and case report [PDF]
, 2016 Langerhans cell histiocytosis (LCH), which is a rare granulomatous pediatric disease of unknown etiology, is characterized by the idiopathic proliferation and accumulation of abnormal and clonal Langerhans cells or their ...
Alejo-Gonzalez, Francisco +4 more
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Enzyme-replacement therapy in life-threatening hypophosphatasia [PDF]
, 2012 et al, +2 more
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A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia [PDF]
, 1998 Naoya Sugimoto +3 more
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Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort
Frontiers in GeneticsIntroductionHypophosphatasia (HPP) is a rare inherited metabolic disease caused by mutations in the ALPL gene. The disease is heterogeneous, complicating its diagnosis and delaying optimal management, leading to severe or lethal outcomes such as failure ...
Afaf Alsagheir +12 more
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Hypophosphatasia in adults [PDF]
, 2018 Antonia A. Kountouri, Anna Papadopoulou
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The Prevalence and Burden of Hypophosphatasia in an Ambulatory Endocrinology Practice [PDF]
, 2021 Hugh B Quinn +2 more
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Tissue Nonspecific Alkaline Phosphatase (TNAP) Regulates Cranial Base Growth and Synchondrosis Maturation [PDF]
, 2017 Hwa K. Nam +3 more
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