Works about HYPOPHOSPHATASIA

Results: 237

Severe Hypercalcemia Associated With Perinatal Hypophosphatasia While Receiving Enzyme Replacement Therapy.

Published in:

2025

By:

Salama, Mostafa;
Nofal, Alaa Al;
Tebben, Peter

Publication type:

Case Study

Hypophosphatasia Presenting as a Chronic Diffuse Pain Syndrome with Extra-Articular Calcifications.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 8, p. 2263, doi. 10.3390/jcm13082263

By:

Lehane, Florence;
Malaise, Olivier;
Von Frenckell, Christian;
Otto, Bernard;
Docampo, Elisa;
Ribbens, Clio

Publication type:

Article

Hypophosphatasia.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 23, p. 5676, doi. 10.3390/jcm10235676

By:

Tournis, Symeon;
Yavropoulou, Maria P.;
Polyzos, Stergios A.;
Doulgeraki, Artemis

Publication type:

Article

First Reported Case of a Pyrophosphate Kidney Stone in a Human.

Published in:

2023

By:

Gigax, Michael R.;
Yang, Lee;
Austin, Glenn;
Mandel, Neil S.;
Lulich, Jody P.;
Asplin, John R.

Publication type:

Case Study

A novel missense mutation in the ALPL gene causes dysfunction of the protein.

Published in:

Molecular Medicine Reports, 2017, v. 16, n. 1, p. 710, doi. 10.3892/mmr.2017.6668

By:

Bin Chen;
Lili Li;
Weitong Ren;
Long Yi;
Yaping Wang;
Fuhua Yan

Publication type:

Article

Hypophosphatasia affecting the permanent dentition.

Published in:

1996

By:

Olsson, Anders;
Matsson, Lars;
Blomquist, Hans K.;
Larsson, Åke;
Sjödin, Bengt;
Olsson, A;
Matsson, L;
Blomquist, H K;
Larsson, A;
Sjödin, B

Publication type:

journal article

Hypophosphatasia: a family study involving a case diagnosed from gingival crevicular fluid.

Published in:

1992

By:

Chapple, I.L.C.;
Thorpe, G.H.G.;
Smith, J.M.;
Saxby, M.S.;
Glenwright, H.D.;
Green, A.;
Perry, G.M.;
Grundy, M.;
Shaw, L.;
Matthews, J.B.;
Chapple, I L;
Thorpe, G H

Publication type:

journal article

Permanent teeth in hypophosphatasia: light and electron microscopic study.

Published in:

1991

By:

El-Labban, N.G.;
Lee, K.W.;
Rule, D.

Publication type:

journal article

Successful Use of Enzyme Replacement Therapy in Infantile Hypophosphatasia.

Published in:

2017

By:

Simm, Peter J;
Savarirayan, Ravi

Publication type:

Case Study

Pyridoxine-Dependent Seizures Associated With Hypophosphatasia in a Newborn.

Published in:

Journal of Child Neurology, 2002, v. 17, n. 3, p. 223, doi. 10.1177/088307380201700314

By:

Nunes, Magda Lahorgue

Publication type:

Article

Correction of Hypophosphatasia-Associated Mineralization Deficiencies In Vitro by Phosphate/Pyrophosphate Modulation in Periodontal Ligament Cells.

Published in:

Journal of Periodontology, 2012, v. 83, n. 5, p. 653, doi. 10.1902/jop.2011.110310

By:

Rodrigues, Thaisângela L.;
Foster, Brian L.;
Silverio, Karina G.;
Martins, Luciane;
Casati, Marcio Z.;
Sallum, Enilson A.;
Somerman, Martha J.;
Nociti Jr., Francisco H.

Publication type:

Article

Severe hypophosphataemia and insulin resistance in diabetic ketoacidosis.

Published in:

Anaesthesia, 1999, v. 54, n. 2, p. 198, doi. 10.1046/j.1365-2044.1999.00783.x

By:

Ravenscroft;
Valentine;
Knappett

Publication type:

Article

Osteologie trifft Rheumatologie: Häufiges und Seltenes im rheumatologischen Alltag.

Published in:

Zeitschrift für Rheumatologie, 2025, v. 84, n. 2, p. 85, doi. 10.1007/s00393-025-01623-1

By:

Hoff, Paula;
Buttgereit, Frank

Publication type:

Article

Ablation of TNAP function compromises myelination and synaptogenesis in the mouse brain.

Published in:

Cell & Tissue Research, 2012, v. 349, n. 2, p. 459, doi. 10.1007/s00441-012-1455-z

By:

Hanics, János;
Barna, János;
Xiao, Jinsong;
Millán, José;
Fonta, Caroline;
Négyessy, László

Publication type:

Article

Interference of Asfotase Alfa in Immunoassays Employing Alkaline Phosphatase Technology.

Published in:

Journal of Applied Laboratory Medicine, 2020, v. 5, n. 2, p. 290, doi. 10.1093/jalm/jfz007

By:

Piec, Isabelle Danielle;
Tompkins, Beatrice;
Fraser, William Duncan

Publication type:

Article

Hypophosphatasia now draws more attention of both clinicians and researchers: A Commentary on prevelance of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers

Published in:

Journal of Human Genetics, 2011, v. 56, n. 3, p. 174, doi. 10.1038/jhg.2011.6

By:

Ozono, Keiichi;
Michigami, Toshimi

Publication type:

Article

Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 166, doi. 10.1038/jhg.2010.161

By:

Watanabe, Atsushi;
Karasugi, Tatsuki;
Sawai, Hideaki;
Naing, Banyar Than;
Ikegawa, Shiro;
Orimo, Hideo;
Shimada, Takashi

Publication type:

Article

A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 160, doi. 10.1007/s100380050061

By:

Sugimoto, N.;
Iwamoto, Sadahiko;
Hoshino, Yuichi;
Kajii, Eiji

Publication type:

Article

Brief Clinical Report: Hypophosphatasia—Diagnostic Considerations and Treatment Outcomes in an Infant.

Published in:

2018

By:

Duffus, Sara;
Thrasher, Bradly;
Calikoglu, Ali S.

Publication type:

Case Study

Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.

Published in:

Frontiers in Endocrinology, 2023, p. 01, doi. 10.3389/fendo.2023.1205977

By:

Cinque, Luigia;
Pugliese, Flavia;
Salcuni, Antonio Stefano;
Trombetta, Domenico;
Battista, Claudia;
Biagini, Tommaso;
Augello, Bartolomeo;
Nardella, Grazia;
Conti, Francesco;
Corbetta, Sabrina;
Fischetto, Rita;
Foiadelli, Thomas;
Gaudio, Agostino;
Giannini, Cosimo;
Grosso, Enrico;
Guabello, Gregorio;
Massuras, Stefania;
Palermo, Andrea;
Politano, Luisa;
Pigliaru, Francesca

Publication type:

Article

Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry.

Published in:

Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1138599

By:

Dahir, Kathryn M.;
Kishnani, Priya S.;
Ángel Martos-Moreno, Gabriel;
Linglart, Agnès;
Petryk, Anna;
Rockman-Greenberg, Cheryl;
Martel, Samantha E.;
Ozono, Keiichi;
Högler, Wolfgang;
Seefried, Lothar

Publication type:

Article

Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases.

Published in:

Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 1, p. 128, doi. 10.1515/cclm-2023-0427

By:

González-Cejudo, Trinidad;
Villa-Suárez, Juan Miguel;
Ferrer-Millán, María;
Andújar-Vera, Francisco;
Contreras-Bolívar, Victoria;
Andreo-López, María Carmen;
Gómez-Vida, José María;
Martínez-Heredia, Luis;
González-Salvatierra, Sheila;
de Haro Muñoz, Tomás;
García-Fontana, Cristina;
Muñoz-Torres, Manuel;
García-Fontana, Beatriz

Publication type:

Article

Phosphoethanolamine normal range in pediatric urines for hypophosphatasia screening.

Published in:

Clinical Chemistry & Laboratory Medicine, 2012, v. 50, n. 12, p. 2231, doi. 10.1515/cclm-2012-0266

By:

Imbard, Apolline;
Alberti, Corinne;
Armoogum-Boizeau, Priscilla;
Ottolenghi, Chris;
Josserand, Emilie;
Rigal, Odile;
Benoist, Jean-François

Publication type:

Article

Gene therapy improves dental manifestations in hypophosphatasia model mice.

Published in:

Journal of Periodontal Research, 2017, v. 52, n. 3, p. 471, doi. 10.1111/jre.12412

By:

Okawa, R.;
Iijima, O.;
Kishino, M.;
Okawa, H.;
Toyosawa, S.;
Sugano ‐ Tajima, H.;
Shimada, T.;
Okada, T.;
Ozono, K.;
Ooshima, T.;
Nakano, K.

Publication type:

Article

The effects of retinoic acid on alkaline phosphatase activity and tissue-non-specific alkaline phosphatase gene expression in human periodontal ligament cells and gingival fibroblasts.

Published in:: Journal of Periodontal Research, 1998, v. 33, n. 7, p. 428
Publication type:: Article

Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1160, doi. 10.1038/ejhg.2014.10

By:

Hofmann, Christine;
Girschick, Hermann;
Mornet, Etienne;
Schneider, Doris;
Jakob, Franz;
Mentrup, Birgit

Publication type:

Article

Clinical utility gene card for: Hypophosphatasia - update 2013.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.177

By:

Mornet, Etienne;
Hofmann, Christine;
Bloch-Zupan, Agnès;
Girschick, Hermann;
Le Merrer, Martine

Publication type:

Article

Clinical utility gene card for: hypophosphatasia.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.170

By:

Mornet, Etienne;
Beck, Christine;
Bloch-Zupan, Agnès;
Girschick, Hermann;
Le Merrer, Martine

Publication type:

Article

Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 10, p. 666, doi. 10.1038/sj.ejhg.5200857

By:

Muriel H&eacute, rasse;
Spentchian, Marc;
Taillandier, Agnès;
Mornet, Etienne

Publication type:

Article

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 308, doi. 10.1038/sj.ejhg.5200190

By:

Mornet, E;
Taillandier, A;
Peyramaure, S;
Kaper, F;
Muller, F;
Brenner, R;
Bussière, P;
Freisinger, P;
Godard, J;
Le Merrer, M;
Oury, J F;
Plauchu, H;
Puddu, R;
Rival, J M;
Superti-Furga, A;
Touraine, R L;
Serre, J L;
Simon-Bouy, B

Publication type:

Article

News on bone metabolism and bone density in health and diseases during growing age: ECTS 2012.

Published in:

IBMS BoneKEy, 2012, v. 9, n. 10, p. 196, doi. 10.1038/bonekey.2012.196

By:

Bianchi, Maria Luisa

Publication type:

Article

Complications of total parenteral nutrition.

Published in:: Kidney International, 1985, v. 27, n. 3, p. 489, doi. 10.1038/ki.1985.37
Publication type:: Article

Phosphatase activity along the nephron of mice with hypophosphatemic vitamin-D-resistant rickets.

Published in:

Kidney International, 1981, v. 20, n. 2, p. 181, doi. 10.1038/ki.1981.120

By:

Brunette, Michele G.;
Chan, Meanthan;
Lebrun, Manon

Publication type:

Article

Tissue-Nonspecific Alkaline Phosphatase with an Asp<sup>289</sup> →Val Mutation Fails to Reach the Cell Surface and Undergoes Proteasome-Mediated Degradation.

Published in:

Journal of Biochemistry, 2003, v. 134, n. 1, p. 63, doi. 10.1093/jb/mvg114

By:

Ishida, Yoko;
Komaru, Keiichi;
Ito, Masahiro;
Amaya, Yoshihiro;
Kohno, Shoji;
Oda, Kimimitsu

Publication type:

Article

GENERAL FEATURES OF CALCIUM PYROPHOSPHATE DEPOSITION DISEASE.

Published in:

Romanian Journal of Rheumatology / Revista Romana de Reumatologie, 2016, v. 25, n. 3, p. 122, doi. 10.37897/rjr.2016.3.4

By:

Vele, Paulina;
Damian, Laura;
Siao-Pin Simon;
Felea, Ioana;
Muntean, Laura;
Tamas, Maria;
Rednic, Simona

Publication type:

Article

Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03048-6

By:

Kishnani, Priya S.;
Martos-Moreno, Gabriel Ángel;
Linglart, Agnès;
Petryk, Anna;
Messali, Andrew;
Fang, Shona;
Rockman-Greenberg, Cheryl;
Ozono, Keiichi;
Högler, Wolfgang;
Seefried, Lothar;
Dahir, Kathryn M.

Publication type:

Article

Identifying adult hypophosphatasia in the rheumatology unit.

Published in:

Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02572-7

By:

Feurstein, Julia;
Behanova, Martina;
Haschka, Judith;
Roetzer, Katharina;
Uyanik, Gökhan;
Hadzimuratovic, Benjamin;
Witsch-Baumgartner, Martina;
Schett, Georg;
Zwerina, Jochen;
Kocijan, Roland

Publication type:

Article

Molecular basis of perinatal hypophosphatasia with tissue-nonspecific alkaline phosphatase bearing a conservative replacement of valine by alanine at position 406.

Published in:

FEBS Journal, 2008, v. 275, n. 11, p. 2727, doi. 10.1111/j.1742-4658.2008.06414.x

By:

Numa, Natsuko;
Ishida, Yoko;
Nasu, Makiko;
Sohda, Miwa;
Misumi, Yoshio;
Noda, Tadashi;
Oda, Kimimitsu

Publication type:

Article

Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433→Cys substitution associated with severe hypophosphatasia.

Published in:

FEBS Journal, 2006, v. 273, n. 24, p. 5612, doi. 10.1111/j.1742-4658.2006.05550.x

By:

Nasu, Makiko;
Ito, Masahiro;
Ishida, Yoko;
Numa, Natsuko;
Komaru, Keiichi;
Nomura, Shuichi;
Oda, Kimimitsu

Publication type:

Article

Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia.

Published in:

2017

By:

Seefried, Lothar;
Baumann, Jasmin;
Hemsley, Sarah;
Hofmann, Christine;
Kunstmann, Erdmute;
Kiese, Beate;
Yue Huang;
Chivers, Simon;
Valentin, Marie-Anne;
Borah, Babul;
Roubenoff, Ronenn;
Junker, Uwe;
Jakob, Franz;
Huang, Yue

Publication type:

journal article

Benign prenatal hypophosphatasia: a treatable disease not to be missed.

Published in:

Pediatric Radiology, 2014, v. 44, n. 3, p. 340, doi. 10.1007/s00247-013-2805-z

By:

Matsushita, Masaki;
Kitoh, Hiroshi;
Michigami, Toshimi;
Tachikawa, Kanako;
Ishiguro, Naoki

Publication type:

Article

Femoral lengthening with enzyme replacement therapy in an adolescent patient with prenatal benign hypophosphatasia: A case report.

Published in:

Journal of Orthopaedic Science, 2023, v. 28, n. 6, p. 1487, doi. 10.1016/j.jos.2021.07.010

By:

Kitoh, Hiroshi;
Kaneko, Hiroshi;
Kitamura, Akiko;
Sawamura, Kenta

Publication type:

Article

HYPOPHOSPHATASIA PRESENTING AS SERONEGATIVE ARTHRITIS AND MISTAKEN FOR PSORIATIC ARTHRITIS.

Published in:

2018

By:

Rodziewicz, Mia S;
Moss, Katie

Publication type:

Case Study

Impact of Restricted Phosphorus, Calcium-adjusted Diet on Musculoskeletal and Mental Health in Hypophosphatasia.

Published in:

Journal of the Endocrine Society, 2024, v. 8, n. 1, p. 1, doi. 10.1210/jendso/bvad150

By:

Kuehn, Katinka;
Hahn, Andreas;
Seefried, Lothar

Publication type:

Article

Romosozumab-aqqg in the Treatment of Osteoporosis in a Patient With Hypophosphatasia.

Published in:

Journal of the Endocrine Society, 2022, v. 6, n. 12, p. 1, doi. 10.1210/jendso/bvac159

By:

Khanjee, Naveed;
Maalouf, Naim M

Publication type:

Article

Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (ALPL).

Published in:

Journal of the Endocrine Society, 2020, v. 4, n. 8, p. 1, doi. 10.1210/jendso/bvaa084

By:

Tilden, Daniel R;
Sheehan, Jonathan H;
Newman, John H;
Meiler, Jens;
Capra, John A;
Ramirez, Andrea;
Simmons, Jill;
Dahir, Kathryn

Publication type:

Article

Atypical Tibial Fracture in a 63-Year-Old Woman With Intermittent Use of Bisphosphonate Unmasking Hypophosphatasia.

Published in:

Journal of the Endocrine Society, 2019, v. 3, n. 11, p. 2082, doi. 10.1210/js.2019-00265

By:

Malabu, Usman H;
Lockett, Jack;
Lyster, Emma;
Maguire, John;
Tan, YongMong

Publication type:

Article

PERINATAL LETHAL FORM OF HYPOPHOSPHATASIA.

Published in:

Journal of Ankara Medical School, 2002, v. 24, n. 1, p. 35

By:

Atasay, Begüm;
Günlemez, Ayla;
Kizialateš, Sevin Ünal

Publication type:

Article

Hypophosphatasia: Phenotypic Variability and Possible Croatian Origin of the c.1402G>A Mutation of TNSALP Gene.

Published in:

Collegium Antropologicum, 2009, v. 33, n. 4, p. 1255

By:

Ramadža, Danijela Petković;
Stipojjev, Feodora;
Sarnavka, Vladimir;
Begović, Davor;
Potočki, Kristina;
Fumić, Ksenija;
Mornet, Etienne;
Barić, Ivo

Publication type:

Article

Basic Science Research.

Published in:: 2019
Publication type:: Abstract