Works matching DE "HYPOPHOSPHATASIA"

Results: 237

Possible role of bone turnover markers in the diagnosis of adult hypophosphatasia.

Published in:

Journal of Bone & Mineral Research, 2025, v. 40, n. 1, p. 79, doi. 10.1093/jbmr/zjae177

By:

Bertoldo, Francesco;
Tripepi, Giovanni;
Zaninotto, Martina;
Plebani, Mario;
Scillitani, Alfredo;
Varenna, Massimo;
Crotti, Chiara;
Cipriani, Cristiana;
Pepe, Jessica;
Minisola, Salvatore;
Pugliese, Flavia;
Guarnieri, Vito;
Baffa, Valeria;
Torres, Marco Onofrio;
Zanchetta, Francesca;
Fusaro, Maria;
Rossini, Maurizio;
Brandi, Maria Luisa;
Egan, Colin Gerard;
Simioni, Paolo

Publication type:

Article

Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #630 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/630.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9159

By:

M. Spentchian;
S. E. Holder;
S-A. Ivarsson;
D. Kostiner;
S. Mansour;
A. Norman;
J. Roth;
F. Stipoljev;
J-L. Taillemite;
J. J. van der Smagt;
J-L. Serre;
B. Simon-Bouy;
A. Taillandier

Publication type:

Article

Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL geneCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #630 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/630.pdf.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9159

By:

M. Spentchian;
Y. Merrien;
M. Herasse;
Z. Dobbie;
D. Gläser;
S. E. Holder;
S‐A. Ivarsson;
D. Kostiner;
S. Mansour;
A. Norman;
J. Roth;
F. Stipoljev;
J‐L. Taillemite;
J. J. van der Smagt;
J‐L. Serre;
B. Simon‐Bouy;
A. Taillandier;
E. Mornet

Publication type:

Article

Subtrochanteric and diaphyseal femoral fractures in hypophosphatasia—not atypical at all.

Published in:

Osteoporosis International, 2018, v. 29, n. 8, p. 1815, doi. 10.1007/s00198-018-4552-3

By:

Genest, F.;
Seefried, L.

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

Extracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X-linked hypophosphatemia.

Published in:

Periodontology 2000, 2013, v. 63, n. 1, p. 102, doi. 10.1111/prd.12029

By:

McKee, Marc D.;
Hoac, Betty;
Addison, William N.;
Barros, Nilana M. T.;
Millán, José L.;
Chaussain, Catherine

Publication type:

Article

Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth.

Published in:

2016

By:

Okazaki, Yoko;
Kitajima, Hiroyuki;
Mochizuki, Narutaka;
Kitaoka, Taichi;
Michigami, Toshimi;
Ozono, Keiichi

Publication type:

journal article

Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 6, p. 851, doi. 10.1007/s00431-012-1868-4

By:

Haliloglu, Belma;
Guran, Tulay;
Atay, Zeynep;
Abali, Saygın;
Mornet, Etienne;
Bereket, Abdullah;
Turan, Serap

Publication type:

Article

Hypophosphatasia may lead to bone fragility: don't miss it.

Published in:

2009

By:

Moulin, Pierre;
Vaysse, Frédéric;
Bieth, Eric;
Mornet, Etienne;
Gennero, Isabelle;
Dalicieux-Laurencin, Sara;
Baunin, Christiane;
Tauber, Marie Thérèse;
De Gauzy, Jérôme Sales;
Salles, Jean Pierre;
Vaysse, Frédéric;
Tauber, Marie Thérèse;
De Gauzy, Jérôme Sales

Publication type:

journal article

Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.

Published in:

2005

By:

Michigami, Toshimi;
Uchihashi, Takayuki;
Suzuki, Akira;
Tachikawa, Kanako;
Nakajima, Shigeo;
Ozono, Keiichi

Publication type:

journal article

Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.

Published in:

European Journal of Pediatrics, 2002, v. 161, n. 11, p. 619, doi. 10.1007/s00431-002-0977-x

By:

Morava, Éva;
Kárteszi, Judit;
Weisenbach, János;
Caliebe, Almuth;
Mundlos, Stefan;
Méhes, Károly

Publication type:

Article

Severe cleidocranial dysplasia can mimic hypophosphatasia.

Published in:

European Journal of Pediatrics, 2002, v. 161, n. 11, p. 623, doi. 10.1007/s00431-002-0978-9

By:

Unger, Sheila;
Mornet, Etienne;
Mundlos, Stefan;
Blaser, Susan;
Cole, David C.

Publication type:

Article

New Empirical Bayes Models to Jointly Analyze Multiple RNA-Sequencing Data in a Hypophosphatasia Disease Study.

Published in:

Genes, 2024, v. 15, n. 4, p. 407, doi. 10.3390/genes15040407

By:

Kinsman, Dawson;
Hu, Jian;
Zhang, Zhi;
Li, Gengxin

Publication type:

Article

Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults.

Published in:

Genes, 2023, v. 14, n. 4, p. 922, doi. 10.3390/genes14040922

By:

Li, Xiang;
Ren, Na;
Wang, Ziyuan;
Wang, Ya;
Hu, Yunqiu;
Hu, Weiwei;
Gu, Jiemei;
Hong, Wei;
Zhang, Zhenlin;
Wang, Chun

Publication type:

Article

Effect of Asfotase Alfa in the Treatment of Hypophosphatasia- A Systematic Review.

Published in:

Journal of Pharmacy & Bioallied Sciences, 2023, v. 15, p. S101, doi. 10.4103/jpbs.jpbs_662_22

By:

Jaswanthi N.;
Sindhu R.;
Nimmy P.;
Prabu D.;
RajMohan M.;
Bharathwaj V. V.;
Dhamodhar, Dinesh;
Sathiyapriya S.

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

Perinatal letal hipofosfatazya: Olgu sunumu.

Published in:: Türk Pediatri Arşivi, 2010, v. 45, n. 4, p. 373, doi. 10.4274/tpa.45.373
Publication type:: Article

Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment.

Published in:

Acta Paediatrica, 2011, v. 100, n. 7, p. e43, doi. 10.1111/j.1651-2227.2011.02228.x

By:

Mohn, Angelika;
De Leonibus, Chiara;
de Giorgis, Tommaso;
Mornet, Etienne;
Chiarelli, Francesco

Publication type:

Article

Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review.

Published in:

2019

By:

Szabo, Shelagh M.;
Tomazos, Ioannis C.;
Petryk, Anna;
Powell, Lauren C.;
Donato, Bonnie M. K.;
Zarate, Yuri A.;
Tiulpakov, Anatoly;
Martos-Moreno, Gabriel Ángel

Publication type:

journal article

Childhood hypophosphatasia: to treat or not to treat.

Published in:

2018

By:

Rush, Eric T.

Publication type:

journal 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

Broad Vitamin B 6 -Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency).

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 7, p. 3270, doi. 10.3390/ijms26073270

By:

Ciapaite, Jolita;
Albersen, Monique;
Savelberg, Sanne M. C.;
Bosma, Marjolein;
Meijer, Nils W. F.;
Tessadori, Federico;
Bakkers, Jeroen P. W.;
van Haaften, Gijs;
Jans, Judith J.;
Verhoeven-Duif, Nanda M.

Publication type:

Article

Hypophosphatasia and the risk of atypical femur fractures: a case-control study.

Published in:

2016

By:

Bhattacharyya, Timothy;
Jha, Smita;
Hongying Wang;
Kastner, Daniel L.;
Remmers, Elaine F.;
Wang, Hongying

Publication type:

journal article

Molecular defect of tissue-nonspecific alkaline phosphatase bearing a substitution at position 426 associated with hypophosphatasia.

Published in:

Molecular & Cellular Biochemistry, 2017, v. 427, n. 1/2, p. 169, doi. 10.1007/s11010-016-2908-6

By:

Oda, Kimimitsu;
Al-Shawafi, Hiba;
Komaru, Keiichi

Publication type:

Article

Hypophosphatasia in adults.

Published in:

Journal of Research & Practice on the Musculoskeletal System (JRPMS), 2018, v. 2, n. 1, p. 2, doi. 10.22540/JRPMS-02-002

By:

Kountouri, Antonia A.;
Papadopoulou, Anna

Publication type:

Article

Developmental biology and genetics of dental malformations.

Published in:

Orthodontics & Craniofacial Research, 2007, v. 10, n. 2, p. 45, doi. 10.1111/j.1601-6343.2007.00384.x

By:

Hu, J. C.-C.;
Simmer, J. P.

Publication type:

Article

Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-020-00133-7

By:

Nagaoka, Shinichi;
Yamaguchi-Kabata, Yumi;
Shiga, Naomi;
Tachibana, Masahito;
Yasuda, Jun;
Tadaka, Shu;
Tamiya, Gen;
Fuse, Nobuo;
Kinoshita, Kengo;
Kure, Shigeo;
Murotsuki, Jun;
Yamamoto, Masayuki;
Yaegashi, Nobuo;
Sugawara, Junichi

Publication type:

Article

Dental loss, stress fractures, and musculoskeletal pain in a 48‐year‐old woman.

Published in:

2023

By:

Hoang, Lindsay T.;
Hatfield, Jennifer S.;
Nguyen, Quan;
Shakir, Mohamed K. M.;
Hoang, Thanh D.

Publication type:

Case Study

Young woman with hypophosphatasia: A case report.

Published in:

2022

By:

Siami, Haleh;
Parsamanesh, Negin;
Besharati Kivi, Shahin

Publication type:

Case Study

A Rare Case of Neonatal Hypophosphatasia: A Case Report.

Published in:

2018

By:

Pouralizadeh, Nasim;
Boskabadi, Hassan;
Mamouri, Gholamali

Publication type:

Case Study

Evaluation of alveolar bone hypomineralization in pediatric hypophosphatasia using orthopantomography.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-05171-5

By:

Okawa, Rena;
Nakamoto, Takashi;
Matayoshi, Saaya;
Nakano, Kazuhiko;
Kakimoto, Naoya

Publication type:

Article

Prosthetic rehabilitation of a young patient with Hypophosphatasia - A review and case report.

Published in:

Contemporary Clinical Dentistry, 2012, v. 3, n. 1, p. 74, doi. 10.4103/0976-237X.94551

By:

Grewal, Partapjot S.;
Gupta, Kanu Priya

Publication type:

Article

Hypophosphatasia: Genetic and Dental Studies.

Published in:

Annals of Internal Medicine, 1966, v. 65, n. 4, p. 722, doi. 10.7326/0003-4819-65-4-722

By:

Pimstone, B.;
Eisenberg, E.;
Silverman, S.

Publication type:

Article

Hypophosphataemia with non-tenofovir-containing antiretroviral therapy.

Published in:

International Journal of STD & AIDS, 2013, v. 24, n. 7, p. 579, doi. 10.1177/0956462413476267

By:

Wainwright, E;
Sherrard, J;
Duncan, S;
Shine, B;
Dorrell, L

Publication type:

Article

Characterization of a family with dominant hypophosphatasia.

Published in:

European Journal of Oral Sciences, 2000, v. 108, n. 3, p. 189, doi. 10.1034/j.1600-0722.2000.108003189.x

By:

Hu, Jan C.C.;
Plaetke, Rosemary;
Mornet, Etienne;
Chuhua Zhang;
Xiaoling Sun;
Thomas, Huw F.;
Simmer, James P.

Publication type:

Article

Isonicotinohydrazones as inhibitors of alkaline phosphatase and ecto-5′-nucleotidase.

Published in:

Chemical Biology & Drug Design, 2017, v. 89, n. 3, p. 365, doi. 10.1111/cbdd.12861

By:

Channar, Pervaiz Ali;
Shah, Syed Jawad Ali;
Hassan, Sidra;
Nisa, Zaib un;
Lecka, Joanna;
Sévigny, Jean;
Bajorath, Jürgen;
Saeed, Aamer;
Iqbal, Jamshed

Publication type:

Article

Hearing loss and fluctuating hearing levels in X-linked hypophosphataemic osteomalacia.

Published in:: Journal of Laryngology & Otology, 2009, v. 123, n. 1, p. 136, doi. 10.1017/S0022215107001636
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

Whole-body MRI in the childhood form of hypophosphatasia.

Published in:

Rheumatology International, 2011, v. 31, n. 10, p. 1315, doi. 10.1007/s00296-010-1493-3

By:

Beck, C.;
Morbach, H.;
Wirth, C.;
Beer, M.;
Girschick, H. J.

Publication type:

Article

How can calcium pyrophosphate crystals induce inflammation in hypophosphatasia or chronic inflammatory joint diseases?

Published in:

Rheumatology International, 2009, v. 29, n. 3, p. 229, doi. 10.1007/s00296-008-0710-9

By:

Beck, C.;
Morbach, H.;
Richl, P.;
Stenzel, M.;
Girschick, H.

Publication type:

Article

Intra-articular glucocorticoid injection: an unusual cause of transient hypophosphataemia.

Published in:

Rheumatology International, 2006, v. 27, n. 1, p. 95, doi. 10.1007/s00296-006-0157-9

By:

Roberts-Thomson, Kurt C.;
Iyngkaran, Guruparan;
Fraser, Robert J.

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 and cleidocranial dysplasia—a case report and review of the literature: the role of the neurosurgeon.

Published in:

2022

By:

Blionas, Alexandros;
Friehs, Gerhard M.;
Zerris, Vasileios A.

Publication type:

Case Study

Neurosurgical aspects of childhood hypophosphatasia.

Published in:

Child's Nervous System, 2009, v. 25, n. 2, p. 217, doi. 10.1007/s00381-008-0708-3

By:

Collmann, H.;
Mornet, E.;
Gattenlöhner, S.;
Beck, C.;
Girschick, H.

Publication type:

Article