Results 31 to 40 of about 1,777 (209)

Two children with hypophosphatasia with a heterozygous c.1559delT variant in the ALPL gene, the most common variant in Japanese populations

Bone Reports, 2022
Hypophosphatasia (HPP), a genetic disorder characterized by decreased tissue-nonspecific alkaline phosphatase (TNSALP) activity, is caused by loss-of-function mutations in the ALPL gene, which encodes TNSALP.
Hiroshi Kitoh, Masako Izawa, Hiroshi Kaneko, Akiko Kitamura, Saori Matsuyama, Kohji Kato, Tomoo Ogi   +6 more
doaj   +1 more source

Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options

Anales de Pediatría (English Edition), 2018
Hypophosphatasia is a very rare bone metabolism disorder caused by a deficiency in alkaline phosphatase activity, due to mutations in the ALPL gene. Its clinical hallmark is the impairment of skeletal and tooth mineralization, although extra-skeletal ...
Gabriel Ángel Martos-Moreno, Joan Calzada, María L. Couce, Jesús Argente   +3 more
doaj   +1 more source

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. [PDF]

, 2017
Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by autosomal recessive mutations or a single dominant-negative mutation in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). The disease is associated with
Agnès Linglart, ATS Statement, Baumgartner-Sigl, Bayley, Beck, Berkseth, Bianchi, Bishop, Bloch-Zupan, Brittain, Cahill, Camacho, Caswell, Centers for Disease Control and Prevention, Colantonio, Collmann, Craig F. Munns, Cundy, Daltroy, Deitz, Eberle, Eric T. Rush, Fedde, Fedde, Fleisch, Folio, Foster, Fraser, Goff, Guralnik, Hampole, Hofmann, Howard M. Saal, Hudson-Barr, International Society for Clinical Densitometry, Kathryn Dahir, Keiichi Ozono, Kozlowski, Laroche, Lawrence, Lessell, Linglart, Lothar Seefried, Lyders, Maman, Marcus, Mark E. Nunes, McCaffery, McDonald, McKiernan, Mori, Mornet, Mornet, Mornet, Mornet, Mornet, Mornet, Nick Bishop, Paul Arundel, Paul Harmatz, Pauli, Piper, Priya S. Kishnani, Reibel, Rockman-Greenberg, Russell, Russell, Russell, Scott, Seshia, Silva, Simmons, Singh, Stoll, Strensiq [Health Canada], Sutton, Taillandier, Taketani, Taketani, Taketani, van Reenen, Varni, Varni, Wang, Ware, Weber, Weiss, Wenkert, Whyte, Whyte, Whyte, Whyte, Whyte, Whyte, Whyte, Whyte, Whyte, William Fraser, Wong   +98 more
core   +1 more source

Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation

JCRPE, 2020
Hypophosphatasia, a rare genetic disease affecting bone metabolism, is characterized by decreased activity of tissue non-specific alkaline phosphatase (TNAP).
Roger Esmel-Vilomara, Susana Hernández, Ariadna Campos-Martorel, Eva González-Roca, Diego Yeste, Félix Castillo   +5 more
doaj   +1 more source

Hypophosphatasia

Medicine, 1984
Histochemical and direct enzyme analysis of osseous tissue from 23 patients with hypophosphatasia revealed that all clinical forms of this inherited metabolic bone disease are characterized by deficiency of alkaline phosphatase (ALP) activity in bone.
M D, Fallon, S L, Teitelbaum, R S, Weinstein, S, Goldfischer, D M, Brown, M P, Whyte   +5 more
openaire   +2 more sources

Different Dental Manifestations in Sisters with the Same ALPL Gene Mutation: A Report of Two Cases

Children, 2022
Hypophosphatasia (HPP) is an inherited disease caused by mutation of the alkaline phosphatase (ALPL) gene in an autosomal dominant or an autosomal recessive manner. The main symptoms of HPP are bone hypomineralization and early exfoliation of the primary
Tamami Kadota, Marin Ochiai, Rena Okawa, Kazuhiko Nakano   +3 more
doaj   +1 more source

Hipofosfatasia: manifestaciones clínicas, recomendaciones diagnósticas y opciones terapéuticas

Anales de Pediatría, 2018
Resumen: La hipofosfatasia es una enfermedad ultra-rara del metabolismo mineral óseo causada por un déficit de actividad de la fosfatasa alcalina, debido a la existencia de mutaciones en el gen ALPL.
Gabriel A. Martos-Moreno, Joan Calzada, María L. Couce, Jesús Argente   +3 more
doaj   +1 more source

Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review [PDF]

, 2018
Atypical femoral fractures (AFFs) are uncommon and have been associated particularly with long-term antiresorptive therapy, including bisphosphonates. Although the pathogenesis of AFFs is unknown, their identification in bisphosphonate-naïve individuals ...
Ebeling, P. (Peter), Laarschot, D.M. (Denise) van de, Milat, F. (Frances), Nguyen, Hanh H., Verkerk, A.J.H.M. (Annemieke), Zillikens, M.C. (Carola)   +5 more
core   +3 more sources

Correlations between 6-minute walk test, chair-rise test, and lower extremity functional scale among patients with hypophosphatasia. [PDF]

Bone Rep
Purpose: Hypophosphatasia (HPP) is a rare disease characterized by skeletal and nonskeletal manifestations that can increase patient disability. The 6-Minute Walk Test (6MWT) is frequently used to assess mobility in patients with HPP, although the test ...
Seefried L, Genest F.
europepmc   +2 more sources

Rare Genetic Disorders Affecting the Periodontal Supporting Tissues in Adolescence

Frontiers in Dental Medicine, 2021
In adolescents periodontal destruction may be the primary manifestation of an as yet unrecognized rare systemic disease, and it may be up to the periodontist to make the correct tentative diagnosis.
Ines Kapferer-Seebacher, Lena Foradori, Johannes Zschocke, Reinhard Schilke   +3 more
doaj   +1 more source