Results 21 to 30 of about 1,777 (209)

Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia

Osteoporosis and Sarcopenia, 2023
Hypophosphatasia (HPP), also called Rathbun disease, is a rare genetic disorder that is caused by the loss-of-function mutation in the ALPL gene encoding tissue non-specific alkaline phosphatase.
Se-Min Kim, Funda Korkmaz, Steve Sims, Vitaly Ryu, Tony Yuen, Mone Zaidi   +5 more
doaj   +1 more source

Generation of new human iPSC cell line (UOMi008-A) from a Hypophosphatasia patient

Stem Cell Research, 2022
A new induced pluripotent stem cell (iPSC) line namely UOMi008-A was generated from a patient having a childhood onset of Hypophosphatasia (HPP). This patient has compound heterozygous mutations c.571G > A (p.Glu191Lys) and c.1001G > A (p.Gly334Asp) in ...
Abhay Srivastava, Elika Verma, Cheryl Rockman-Greenberg, Sanjiv Dhingra   +3 more
doaj   +1 more source

Chronic Recurrent Multifocal Osteomyelitis Mimicked in Childhood Hypophosphatasia [PDF]

Journal of Bone and Mineral Research, 2009
Abstract Hypophosphatasia (HPP) is the inborn error of metabolism characterized by low serum alkaline phosphatase (ALP) activity caused by inactivating mutations within TNSALP, the gene that encodes the “tissue-nonspecific” isoenzyme of ALP (TNSALP).
Whyte, Michael P., Wenkert, Deborah, McAlister, William H., Mughal, M. Zulf, Freemont, Anthony J., Whitehouse, Richard, Baildam, Eileen M., Coburn, Stephen P., Ryan, Lawrence M., Mumm, Steven   +9 more
openaire   +2 more sources

Reprogramming of Hypophosphatasia patient cells to generate a new human iPSC cell line (UOMi009-A)

Stem Cell Research, 2022
In this study we report reprogramming and generation of a new human induced pluripotent stem cell line UOMi009_A, which was generated from a 64 year old male patient with childhood onset Hypophosphatasia (HPP).
Abhay Srivastava, Ina Siwach, Cheryl Rockman-Greenberg, Sanjiv Dhingra   +3 more
doaj   +1 more source

Validation of a novel scoring system for changes in skeletal manifestations of hypophosphatasia in newborns, infants, and children: The Radiographic Global Impression of Change scale [PDF]

, 2018
Hypophosphatasia (HPP) is the heritable metabolic disease characterized by impaired skeletal mineralization due to low activity of the tissue-nonspecific isoenzyme of alkaline phosphatase.
Fujita, Kenji P, McAlister, William H, Moseley, Scott, Thompson, David D, Whyte, Michael P   +4 more
core   +2 more sources

Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report

Journal of Medical Case Reports, 2019
Background Hypophosphatasia is an inherited bone disease characterized by low alkaline phosphatase activity encoded by ALPL. Clinically, hypophosphatasia can be categorized as perinatal, infantile, childhood, and adult forms, as well as odonto ...
Kazunori Fukushima, Keiko Kawai-Kowase, Yukio Yonemoto, Makoto Fujiwara, Hiroko Sato, Mahito Sato, Takuo Kubota, Keiichi Ozono, Junich Tamura   +8 more
doaj   +1 more source

Hypophosphatasia in Taiwan: Report of Two Cases

Kaohsiung Journal of Medical Sciences, 2005
Hypophosphatasia is a rare inherited metabolic disease characterized by rickets with reduced plasma and tissue alkaline phosphatase activity. It may be present in infancy, childhood, or adulthood.
Yen-Yin Chou, Shang-Chun Tsai, Shio-Jean Lin   +2 more
doaj   +1 more source

Current concepts in odontohypophosphatasia form of hypophosphatasia and report of two cases [PDF]

, 2016
published_or_final_versio
Qiao, W, Su, Y, Wang, ZY, Zhang, K, Zheng, GS   +4 more
core   +1 more source

Dental effects of enzyme replacement therapy in case of childhood-type hypophosphatasia

BMC Oral Health, 2021
Background Hypophosphatasia (HPP), a skeletal disease characterized by hypomineralization of bone and teeth, is caused by an ALPL gene mutation that leads to low activity of the tissue non-specific alkaline phosphatase enzyme. Although enzyme replacement
Rena Okawa, Kazuma Kokomoto, Kazuhiko Nakano   +2 more
doaj   +1 more source

The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data. [PDF]

Orphanet J Rare Dis
Introduction Hypophosphatasia (HPP) is an inherited, metabolic, rare disease characterized by a high level of clinical heterogeneity. In response to this robust heterogeneity, the Global HPP Registry was formed to characterize the types of manifestations
Kishnani PS, Seefried L, Ozono K, Martos-Moreno GÁ, Rockman-Greenberg C, Fowler D, Burke LK, Mowrey WR, Rush ET, Ebeling PR, Högler W, Linglart A, Fang S, Petryk A, Dahir KM.   +14 more
europepmc   +2 more sources