Results 81 to 90 of about 9,342 (275)
Orphanet Journal of Rare DiseasesBackground Hypophosphatasia (HPP) is a rare inherited disease caused by deficient activity of tissue-nonspecific alkaline phosphatase. Many adults with HPP have a high burden of disease, experiencing chronic pain, fatigue, limited mobility, and dental ...
P. Kishnani +10 more
semanticscholar +1 more source
Archives of Endocrinology and Metabolism, 2021 Objectives: Alkaline phosphatase (ALP) is the main laboratory marker of hypophosphatasia (HPP), a rare disease unknown to most physicians. The prevalence of HPP has been widely discussed in the literature due to the diverse phenotypes of HPP. The purpose
Lucio Henrique Rocha Vieira +4 more
doaj +1 more source
Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia. [PDF]
Ital J Pediatrd'Angelo DM +10 more
europepmc +3 more sources
Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]
, 2015 Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated ...
Angelopoulou, Matina V. +2 more
core +1 more source
Parathyroid localization [PDF]
, 1986 Twenty-nine consecutive patients with suspected primary hyperparathyroidism were examined preoperatively using ultrasound, sonographically guided fine needle aspiration, and aspirate immunostaining for PTH.
Borisch, B. +7 more
core +1 more source
Periodontitis and Periodontal Conditions in Systemically Healthy Children and Adolescents
Journal of Clinical Periodontology, EarlyView.ABSTRACT Objective To answer the PICoS question ‘in systemically healthy children and adolescents (Population), what are the main features of periodontitis, necrotising periodontal diseases (NPD) and other periodontal conditions (periodontal abscesses, endo‐periodontal lesions, traumatic occlusal forces, prosthesis‐ and tooth‐related factors ...
Inbar Eshkol‐Yogev +5 more
wiley +1 more source
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia
Frontiers in Endocrinology, 2023 Introduction Hypophosphatasia (HPP) is a rare genetic disease caused by inactivating variants of the ALPL gene. Few data are available on the clinical presentation in Italy and/or on Italian HPP surveys.
L. Cinque +29 more
semanticscholar +1 more source
Prosthetic rehabilitation of a young patient with Hypophosphatasia - A review and case report
Contemporary Clinical Dentistry, 2012 Hypophosphatasia is a congenital disease characterized by deficiency of serum and tissue non-specific alkaline phosphatase activity. The disease occurs due to mutations in the liver/bone/kidney alkaline phosphatase gene.
Partapjot S Grewal, Kanu Priya Gupta
doaj +1 more source
Dental manifestations in adult hypophosphatasia and their correlation with biomarkers
JIMD Reports, 2022 Hypophosphatasia (HPP) is a genetic condition with broad clinical manifestations caused by alkaline phosphatase (ALP) deficiency. Adults with HPP exhibit a wide spectrum of signs and symptoms.
Priya Sinha +4 more
doaj +1 more source
, 2015 Accumulating evidence from recent literature underline the important roles of tissue non specific alkaline phosphatase (TNAP) in diverse functions as well as diseases of the nervous system.
Cserpán, Dorottya +4 more
core +1 more source