Results 101 to 110 of about 2,723,375 (158)

A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the ALPL gene. [PDF]

Clin Pediatr Endocrinol, 2023
Tachikawa K, Yamazaki M, Michigami T.
europepmc   +1 more source

Prosthodontic Rehabilitation Of Hypophosphatasia With 13-Year Implant Follow-Up

International Dental Journal
Introduction: This case presents a 13-year follow-up of a patient with odontohypophosphatasia (odonto-HPP), the most prevalent form of hypophosphatasia (HPP), who underwent prosthodontics rehabilitation using dental implants.
Tongxin Zhu, Bin Chen
doaj   +1 more source

Six ALPL gene variants in five children with hypophosphatasia. [PDF]

Ann Transl Med, 2021
Su N, Zhu M, Cheng X, Xu K, Kocijan R, Zhang H.   +5 more
europepmc   +1 more source

Broad Vitamin B6-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency)

Hypophosphatasia (HPP) is a rare inborn error of metabolism caused by pathogenic variants in ALPL, coding for tissue non-specific alkaline phosphatase. HPP patients suffer from impaired bone mineralization, and in severe cases from vitamin B6-responsive ...
Sanne M. C. Savelberg, Judith J. Jans, Nanda M. Verhoeven-Duif, Nils W. F. Meijer, Monique Albersen, Marjolein Bosma, Jolita Ciapaite, Federico Tessadori, Jeroen P. W. Bakkers, Gijs van Haaften   +9 more
core   +2 more sources

Genetic analysis of adults heterozygous for ALPL mutations

, 2017
International audienceHypophosphatasia (HPP) is a rare inherited metabolic bone disease due to a deficiency of the tissue nonspecific alkaline phosphatase isoenzyme (TNSALP) encoded by the ALPL gene.
Elaine Fletcher, Bruno LeHeup, Dufour, Annika, Guggenbuhl, Pascal, Rose-Marie Javier, Jean Chiesa, Chiesa, Jean, Pascal Guggenbuhl, Cédric Lukas, Lausch, Ekkehart, Agnès Taillandier, Cormier, Catherine, Roux, Christian, Mornet, Etienne, Muti, Christine, Debiais, Françoise, Lukas, Cédric, Leheup, Bruno, Geneviève, David, Agnès Guichet, Thierry Colin, Guichet, Agnès, Simon-Bouy, Brigitte, Laurent, Michael, Fletcher, Elaine, Domingues, Christelle, Colin, Thierry, Coury, Fabienne, Schwabe, Georg, Françoise Debiais, Christian Roux, Fabienne Coury, David Geneviève, Catherine Cormier, Annika Dufour, Ineke van der Burgt, Valérie Porquet-Bordes, Ekkehart Lausch, Cortet, Bernard, Christelle Domingues, Michel Laroche, Michael Laurent, Taillandier, Agnès, Laroche, Michel, Christine Muti, Brigitte Simon-Bouy, Georg Schwabe, Porquet-Bordes, Valérie, Javier, Rose-Marie, Bernard Cortet, Etienne Mornet, van Der Burgt, Ineke   +51 more
core   +1 more source

Gene expression values of collagen type I (col1α2), collagen type II (col2α1), collagen type X (col10α1), osteopontin (spp1), osteonectin (sparc), osteocalcin (bglap), and alkaline phosphatase (alpl) relative to ß-actin on embryonic day (E)13, ED17, and at hatching for broiler embryos and chickens incubated under continuous light (24L), 16h of light, followed by 8h of darkness (16L:8D), or continuous darkness (24D).

, 2019
Gene expression values of collagen type I (col1α2), collagen type II (col2α1), collagen type X (col10α1), osteopontin (spp1), osteonectin (sparc), osteocalcin (bglap), and alkaline phosphatase (alpl) relative to ß-actin on embryonic day (E)13, ED17, and ...
Sander Kranenbarg (170722), Karen M. Leon-Kloosterziel (7251950), Margaretha H. van Eijk-Priester (7251953), Bas Kemp (341425), Sander W. S. Gussekloo (5032304), Carla W. van der Pol (6264329), Inge A. M. van Roovert-Reijrink (6264332), Henry van den Brand (341424), Michal Zeman (659094)   +8 more
core   +1 more source

A compound heterozygous mutation of the alkaline phosphatase ALPL gene causes hypophosphatasia in a Han Chinese family. [PDF]

Exp Ther Med, 2020
Huang H, Wang J, Liang Y, Wei X, Guo D, Sun H, Zhang X, Xu X, Xiong F.   +8 more
europepmc   +1 more source

A case report of unsuccessful enzyme replacement therapy in perinatal hypophosphatasia: impact of comorbid tetralogy of Fallot, prematurity, and novel variants

Journal of Rare Diseases
Hypophosphatasia (HPP) is a rare inborn error of metabolism characterized by defective bone mineralization due to alkaline phosphatase (ALP) deficiency encoded by the gene ALPL (Orphanet J Rare Dis 2:40, 2007), (Am J Med 22:730-746, 1957).
Tram Le, Bridget Fitzgerald, Michael Chomat, Jamie Sinton   +3 more
doaj   +1 more source

Alterations of Alpl and bFGF levels in peripheral tissues after mild traumatic brain injury: implications on sexual differences

Mild traumatic brain injury (mTBI) is a significant health issue affecting people of all ages and socioeconomic groups. Its clinical spectrum alters from transient mild symptoms to disabling problems.
Gülsu, Su Mercan, Taheri, Serpil, Yılmaz Şükranlı, Zeynep, Yora, Samed, Memiş, Mehmet, Mehmetbeyoğlu Duman, Ecmel, Kökenek Ünal, Tuba Dilay   +6 more
core   +1 more source

Screening for Hypophosphatasia in Adult Patients at a Maximum Care Provider—Retrospective Analyses over Fifteen Years

Background/Objectives: Hypophosphatasemia (HPE) may be temporary (tHPE) in the context of severe diseases, such as sepsis or trauma, or it may persist (pHPE), indicating an adult form of hypophosphatasia (HPP; OMIM 171760), a rare metabolic bone disorder
Robert Hennings, Jürgen Kratzsch, Andreas Roth, Anke Tönjes, Johannes R. Lemke, Diana Le Duc, Linnaeus Bundalian, Joachim Thiery   +7 more
core   +1 more source