Results 11 to 20 of about 6,701 (243)

Adult hypophosphatasia presenting with recurrent acute joint pain. [PDF]

Endocrinol Diabetes Metab Case Rep
Hypophosphatasia (HPP) is a genetic disorder due to pathological variants in ALPL, the gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP is typically associated with bone-related symptoms, such as bone deformity, fractures and bone pain in
Yoshida H, Murakami T, Ogawa A, Sunouchi T, Hidaka N, Ito N, Murakami H, Kawasaki H, Akiyama T, Nakajima K, Yabe D, Yamamoto T.   +11 more
europepmc   +2 more sources

Adult-Onset Hypophosphatasia: Before and After Treatment with Asfotase ALFA [PDF]

AACE Clinical Case Reports, 2019
: Objective: To review the diagnosis and clinical course of a woman with hypophosphatasia who is being treated with newly approved enzyme replacement therapy, asfotase alfa. Methods: Clinical and laboratory data are presented.
Angela L. Magdaleno, DO, Sonum Singh, MD, Sandhya Venkataraman, DO, Gretchen A. Perilli, MD, Ya-Yu Lee, MD   +4 more
doaj   +2 more sources

Hypophosphatasia: A Systemic Skeletal Disorder Caused by Alkaline Phosphatase Deficiency [PDF]

, 2017
Hypophosphatasia (HPP) is an inherited systemic bone disease caused by the deficiency of tissue-nonspecific alkaline phosphatase (TNAP). HPP is classified into six forms and the symptoms of HPP vary depending on the form.
Orimo, Hideo
core   +3 more sources

Update on the management of hypophosphatasia [PDF]

Therapeutic Advances in Musculoskeletal Disease, 2019
Hypophosphatasia is a rare inherited disease caused by a loss of function mutations in the gene that codes for the tissue-nonspecific alkaline phosphatase enzyme. It is autosomally inherited and at least 388 different genetic defects have been identified.
Varvara Choida, Judith Bubbear
openalex   +5 more sources

Oro-Dental Characteristics in Patients With Adult-Onset Hypophosphatasia Compared to a Healthy Control Group-A Case-Control Study. [PDF]

J Oral Rehabil
Hypophosphatasia (HPP) is a rare inherited disease that affects multiple organ systems including bone and teeth. Less attrition, tooth opacities, reduced bone level, denticles and loss of permanent teeth are possible oro‐dental findings in patients with adult‐onset HPP (aHPP).
Jørgensen FF, Hermann X, Hepp N, Sonnesen L.   +3 more
europepmc   +2 more sources

Natural history of perinatal and infantile hypophosphatasia: A retrospective study [PDF]

, 2019
Objective: To report clinical characteristics and medical history data obtained retrospectively for a large cohort of pediatric patients with perinatal and infantile hypophosphatasia.
Argente, Jesús, Beck, Michael, DiMeglio, Linda, Fujita, Kenji P., Hofmann, Christine, Leung, Edward, Liese, Johannes, Martos-Moreno, Gabriel, Moseley, Scott, Reeves, Amy, Simm, Peter, Simmons, Jill, Steelman, Joel, Steiner, Robert D., Superti-Furga, Andrea, Whyte, Michael P., Wilcox, William R., Wuh-Liang Hwu, Paul   +17 more
core   +2 more sources

A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage. [PDF]

Children (Basel)
Background: Hypophosphatasia (HPP) is an inherited disease caused by low activity of tissue-nonspecific alkaline phosphatase. Dental characteristics include premature loss of primary teeth, enlarged pulp chambers, and enamel hypoplasia.
Akitomo T, Niizato N, Kaneki A, Ogawa M, Nishimura T, Kametani M, Usuda M, Iwamoto Y, Mitsuhata C, Nomura R.   +9 more
europepmc   +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
  +7 more sources

Current Approaches in Management of Patients with Hypophosphatasia

Педиатрическая фармакология, 2021
he authors present the latest data on the hypophosphatasia (HPP) management in children. Hypophosphatasia is a rare genetic disease caused by deficiency of tissue-specific alkaline phosphatase due to mutation in the ALPL gene.
Alexander A. Baranov, Leyla S. Namazova-Baranova, Sergey I. Kutsev, Tea V. Margieva, Nato D. Vashakmadze, Elena A. Vishneva, Lilia R. Selimzyanova, Elena Yu. Voskoboeva, Ekaterina Yu. Zakharova, Ludmila M. Kuzenkova, Tina V. Lobzhanidze, Lyudmila K. Mikhaylova, Olga A. Polyakova, Svetlana V. Mikhaylova, Sergei V. Moiseev, Tatiana V. Podkletnova, Alla N. Semechkina, Olga V. Udalova, Alisa V. Vitebskaya, Larisa P. Kisel’nikova, Mikhail M. Kostik   +20 more
doaj   +1 more source

First Reported Case of a Pyrophosphate Kidney Stone in a Human

Case Reports in Nephrology and Dialysis, 2023
Urolithiasis composed of pyrophosphate salts has only been reported in animals, in the form of potassium magnesium pyrophosphate. However, there have been no reports of pyrophosphate stones in humans.
Michael R. Gigax, Lee Yang, Glenn Austin, Neil S. Mandel, Jody P. Lulich, John R. Asplin   +5 more
doaj   +1 more source