Results 21 to 30 of about 1,523 (155)

Hypophosphatasia

Annals of Internal Medicine: Clinical Cases
Hypophosphatasia is a significantly heterogeneous disease caused by loss of function mutations in the alkaline phosphatase gene. Hypophosphatasia can manifest with dental and skeletal issues from birth to adulthood.
Asmaa S. AbuMaziad, Gabrielle C. Milillo
doaj   +2 more sources

Hypophosphatasia

Journal of Clinical Medicine, 2021
Hypophosphatasia (HPP) is an inherited metabolic disease caused by loss-of-function mutations in the tissue non-specific alkaline phosphatase (TNAP) gene. Reduced activity of TNAP leads to the accumulation of its substrates, mainly inorganic pyrophosphate and pyridoxal-5′-phosphate, metabolic aberrations that largely explain the musculoskeletal and ...
Symeon Tournis, Maria Yavropoulou, Stergios Polyzos, Artemis Doulgeraki   +3 more
openaire   +6 more sources

Hypophosphatasia as a plausible cause of vitamin B6 associated mouth pain:A case-report [PDF]

, 2023
Background: Mouth pain has been associated with abnormal vitamin B6 levels. Hypophosphatasia is a rare genetic disease, which causes imbalances between B6 vitamers. We report the case of a patient with hypophosphatasia and burning mouth pain.
Andersen, Eline Sandvig, Rasmussen, Maria; id_orcid, Brasen, Claus Lohman   +2 more
core   +1 more source

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

There’s Something in the Water: An Unusual Case of Hypophosphatasia [PDF]

, 2023
Learning Objectives 1. Explain the mechanism of TNSALP in the pathogenesisof hypophosphatasia and the role of ALPL mutations inthe severity of disease presentation. 2.
Fan, Chris, Wills, Carson
core   +1 more source

Hypophosphatasia in the Newborn [PDF]

Archives of Disease in Childhood, 1963
Archives of Disease in ...
Lapatsanis, P. D., Todd, R. M.
openaire   +3 more sources

Effect of asfotase alfa in the treatment of hypophosphatasia- A systematic review

Journal of Pharmacy and Bioallied Sciences, 2023
Hypophosphatasia (HPP) is a life-threatening disease that occurs due to the mutation of the TNSALP (Tissue nonspecific isoenzyme of alkaline phosphatase) encoding gene. There is no approved treatment for Hypophosphatasia.
N Jaswanthi, R Sindhu, P Nimmy, D Prabu, M RajMohan, V V Bharathwaj, Dinesh Dhamodhar, S Sathiyapriya   +7 more
doaj   +1 more source

Hypophosphatasia: The Obscure Killer Lurking Among Us [PDF]

, 2022
Many different pathologies in dentistry can lead to detrimental outcomes for patients. One of the more unknown examples is the disease of hypophosphatasia.
Hedges, Anna
core   +1 more source

Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? – Call for a long-term follow-up of premature loss of primary teeth

Bone Reports, 2016
Introduction: Hypophosphatasia, a metabolic bone disease caused by a tissue-nonspecific alkaline phosphatase deficiency, leads to undermineralization of bone and/or teeth, impaired vitamin B6 metabolism, and a spectrum of disease presentation.
Mari Mori, Stephanie L. DeArmey, Thomas J. Weber, Priya S. Kishnani   +3 more
doaj   +1 more source

Emerging therapies for the treatment of rare pediatric bone disorders

Frontiers in Pediatrics, 2022
In recent years, new therapies for the treatment of rare pediatric bone disorders have emerged, guided by an increasing understanding of the genetic and molecular etiology of these diseases.
Kathryn M. Thrailkill, Evangelia Kalaitzoglou, John L. Fowlkes   +2 more
doaj   +1 more source