PMC Articles for MedGen (Select 43799) - PMC

Links from MedGen

Items: 1 to 20 of 385

<< First< Prev

Page of 20

Next >Last >>

Select item 110515221.

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

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

J Clin Med. 2024 Apr; 13(8): 2263. Published online 2024 Apr 13. doi: 10.3390/jcm13082263

PMCID:: PMC11051522

Article PDF–472K

Select item 110023522.

Detection of hypophosphatasia in hospitalised adults in rheumatology and internal medicine departments: a multicentre study over 10 years

Guillaume Larid, Justine Vix, Pauline Preuss, François Robin, Alice Tison, Clémentine Delaveau, Faustine Krajewski, Béatrice Bouvard, Delphine Chu Miow Lin, Pascal Guggenbuhl, Yves Maugars, Alain Saraux, Francoise Debiais

RMD Open. 2024; 10(2): e004316. Published online 2024 Apr 4. doi: 10.1136/rmdopen-2024-004316

PMCID:: PMC11002352

Article PDF–574K

Select item 109586273.

A Case of Hypophosphatasia With Normal Alkaline Phosphatase Levels

Antara Dattagupta, Steven Petak

AACE Clin Case Rep. 2024 Mar-Apr; 10(2): 38–40. Published online 2023 Nov 22. doi: 10.1016/j.aace.2023.11.006

PMCID:: PMC10958627

Article PDF–227K

Select item 109217964.

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

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

Orphanet J Rare Dis. 2024; 19: 109. Published online 2024 Mar 8. doi: 10.1186/s13023-024-03048-6

PMCID:: PMC10921796

Article PDF–916K

Select item 109045125.

The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion

G. I. Baroncelli, G. Carlucci, E. Freri, M. R. Giuca, V. Guarnieri, G. Navarra, B. Toschi, S. Mora

J Endocrinol Invest. 2024; 47(3): 739–747. Published online 2023 Sep 26. doi: 10.1007/s40618-023-02199-w

PMCID:: PMC10904512

Article PDF–642K

Select item 108747216.

Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia

Se-Min Kim, Funda Korkmaz, Steve Sims, Vitaly Ryu, Tony Yuen, Mone Zaidi

Osteoporos Sarcopenia. 2023 Dec; 9(4): 115–120. Published online 2023 Dec 20. doi: 10.1016/j.afos.2023.12.003

PMCID:: PMC10874721

Article PDF–850K

Select item 108667857.

Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults

Aliya A. Khan, Maria Luisa Brandi, Eric T. Rush, Dalal S. Ali, Hatim Al-Alwani, Khulod Almonaei, Farah Alsarraf, Severine Bacrot, Kathryn M. Dahir, Karel Dandurand, Chad Deal, Serge Livio Ferrari, Francesca Giusti, Gordon Guyatt, Erin Hatcher, Steven W. Ing, Muhammad Kassim Javaid, Sarah Khan, Roland Kocijan, Agnes Linglart, Iman M’Hiri, Francesca Marini, Mark E. Nunes, Cheryl Rockman-Greenberg, Christian Roux, Lothar Seefried, Jill H. Simmons, Susan R. Starling, Leanne M. Ward, Liang Yao, Romina Brignardello-Petersen, E. Michael Lewiecki

Osteoporos Int. 2024; 35(3): 431–438. Published online 2023 Nov 20. doi: 10.1007/s00198-023-06844-1

Correction in:: Osteoporos Int. 2024; 35(5): 933–934.

PMCID:: PMC10866785

Article PDF–736K

Select item 107920438.

Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene

Luis Martínez-Heredia, Manuel Muñoz-Torres, Raquel Sanabria-de la Torre, Ángela Jiménez-Ortas, Francisco Andújar-Vera, Trinidad González-Cejudo, Victoria Contreras-Bolívar, Sheila González-Salvatierra, José María Gómez-Vida, Cristina García-Fontana, Beatriz García-Fontana

Front Endocrinol (Lausanne) 2023; 14: 1320516. Published online 2024 Jan 3. doi: 10.3389/fendo.2023.1320516

PMCID:: PMC10792043

Article PDF–4.7M

Select item 107867459.

Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group

Eric Rush, Maria Luisa Brandi, Aliya Khan, Dalal S. Ali, Hatim Al-Alwani, Khulod Almonaei, Farah Alsarraf, Severine Bacrot, Kathryn M. Dahir, Karel Dandurand, Chad Deal, Serge Livio Ferrari, Francesca Giusti, Gordon Guyatt, Erin Hatcher, Steven W. Ing, Muhammad Kassim Javaid, Sarah Khan, Roland Kocijan, E. Michael Lewiecki, Agnes Linglart, Iman M’Hiri, Francesca Marini, Mark E. Nunes, Cheryl Rockman-Greenberg, Christian Roux, Lothar Seefried, Susan R. Starling, Leanne Ward, Liang Yao, Romina Brignardello-Petersen, Jill H. Simmons

Osteoporos Int. 2024; 35(1): 1–10. Published online 2023 Nov 20. doi: 10.1007/s00198-023-06843-2

PMCID:: PMC10786745

Article PDF–663K

Select item 1076503210.

Short stature with low serum alkaline phosphatase activity: a case report of hypophosphatasia

Donghyun Lee, So Yun Park, Heung Sik Kim, Seokjin Kang

Ann Pediatr Endocrinol Metab. 2023 Dec; 28(4): 312–317. Published online 2023 Dec 31. doi: 10.6065/apem.2244294.147

PMCID:: PMC10765032

Article PDF–421K

Select item 1073109811.

The Effect of Asfotase Alfa on Plasma and Urine Pyrophosphate Levels and Pseudofractures in a Patient With Adult‐Onset Hypophosphatasia

Naoko Hidaka, Hiroaki Murata, Kanako Tachikawa, Keiichi Osaki, Takashi Sekiyama, Yuka Kinoshita, Hajime Kato, Yoshitomo Hoshino, Soichiro Kimura, Takashi Sunouchi, So Watanabe, Masaomi Nangaku, Noriko Makita, Toshimi Michigami, Nobuaki Ito

JBMR Plus. 2023 Dec; 7(12): e10842. Published online 2023 Nov 20. doi: 10.1002/jbm4.10842

PMCID:: PMC10731098

Article PDF–1.8M

Select item 1072631112.

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

Katinka Kuehn, Andreas Hahn, Lothar Seefried

J Endocr Soc. 2023 Dec 1; 8(1): bvad150. Published online 2023 Dec 4. doi: 10.1210/jendso/bvad150

PMCID:: PMC10726311

Article PDF–270K

Select item 1066505613.

Hypophosphatasia: from birth to adulthood

Fernanda Salles Reis, Marise Lazaretti-Castro

Arch Endocrinol Metab. 2023; 67(5): e000626. Published online 2023 May 29. doi: 10.20945/2359-3997000000626

PMCID:: PMC10665056

Article PDF–311K

Select item 1057066414.

Could Some Patients With Fibromyalgia Potentially Have Hypophosphatasia? A Retrospective Single‐Center Study

Patil Injean, John Tan, Sandy Lee, Christina Downey

ACR Open Rheumatol. 2023 Oct; 5(10): 524–528. Published online 2023 Sep 3. doi: 10.1002/acr2.11591

PMCID:: PMC10570664

Article PDF–388K

Select item 1050899715.

Atypical Femoral Fracture in Hypophosphatasia: A Systematic Review

Nipith Charoenngam, Jerapas Thongpiya, Pitchaporn Yingchoncharoen, Ben Ponvilawan, Mehmet S. Marangoz, Jirat Chenbhanich, Patompong Ungprasert

Int J Endocrinol. 2023; 2023: 5544148. Published online 2023 Sep 12. doi: 10.1155/2023/5544148

PMCID:: PMC10508997

Article PDF–259K

Select item 1046658116.

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

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

J Pharm Bioallied Sci. 2023 Jul; 15(Suppl 1): S101–S104. Published online 2023 Jul 5. doi: 10.4103/jpbs.jpbs_662_22

PMCID:: PMC10466581

Article

Select item 1043315617.

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

Luigia Cinque, Flavia Pugliese, Antonio Stefano Salcuni, Domenico Trombetta, Claudia Battista, Tommaso Biagini, Bartolomeo Augello, Grazia Nardella, Francesco Conti, Sabrina Corbetta, Rita Fischetto, Thomas Foiadelli, Agostino Gaudio, Cosimo Giannini, Enrico Grosso, Gregorio Guabello, Stefania Massuras, Andrea Palermo, Luisa Politano, Francesca Pigliaru, Rosaria Maddalena Ruggeri, Emanuela Scarano, Piera Vicchio, Salvatore Cannavò, Mauro Celli, Francesco Petrizzelli, Mario Mastroianno, Marco Castori, Alfredo Scillitani, Vito Guarnieri

Front Endocrinol (Lausanne) 2023; 14: 1205977. Published online 2023 Aug 1. doi: 10.3389/fendo.2023.1205977

PMCID:: PMC10433156

Article PDF–2.7M

Select item 1042752318.

Reducing diagnostic delay in hypophosphatasia: a case series of 14 patients presenting to general rheumatology

Muhammad A. Rauf, Jalpa Kotecha, Katie Moss

Osteoporos Int. 2023; 34(9): 1647–1652. Published online 2023 Apr 28. doi: 10.1007/s00198-023-06749-z

PMCID:: PMC10427523

Article PDF–391K

Select item 1032969119.

The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase

Yating Yu, Kewei Rong, Deqiang Yao, Qing Zhang, Xiankun Cao, Bing Rao, Ying Xia, Yi Lu, Yafeng Shen, Ying Yao, Hongtao Xu, Peixiang Ma, Yu Cao, An Qin

Nat Commun. 2023; 14: 4048. Published online 2023 Jul 8. doi: 10.1038/s41467-023-39833-3

PMCID:: PMC10329691

Article PDF–7.0M

Select item 1028829620.

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

Kanako Tachikawa, Miwa Yamazaki, Toshimi Michigami

Clin Pediatr Endocrinol. 2023; 32(3): 180–187. Published online 2023 May 6. doi: 10.1297/cpe.2023-0019

PMCID:: PMC10288296

Article PDF–2.4M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 385

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity