Results 141 to 150 of about 9,342 (275)

Prenatal diagnosis of hypophosphatasia congenita using ultrasonography [PDF]

, 2015
Ashwitha Guguloth, Yashant Aswani, Karan Manoj Anandpara   +2 more
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Prenatal asfotase alfa-mediated enzyme replacement therapy restores delayed calcification in a severe infantile form of hypophosphatasia model mice

, 2023
Kaori Yoshida, Satoshi Ishizuka, Aki Nakamura-Takahashi, Akihiro Hasegawa, Akihiro Umezawa, Kyotaro Koshika, Tatsuya Ichinohe, Masataka Kasahara   +7 more
openalex   +1 more source

A case of infantile hypophosphatasia: Phenotypic findings of a compound heterozygous inheritance with a novel mutation

, 2023
Nimisha Dange, Shruti Mondkar, Vaman Khadilkar, Anuradha Khadilkar   +3 more
openalex   +1 more source

Adult hypophosphatasia presenting with recurrent acute joint pain

Endocrinology, Diabetes & Metabolism Case Reports
Hypophosphatasia (HPP) is a genetic disorder due to pathological variants in ALPL, the gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP is typically associated with bone-related symptoms, such as bone deformity, fractures and bone pain in
Hayao Yoshida, Takaaki Murakami, Atsubumi Ogawa, Takashi Sunouchi, Naoko Hidaka, Nobuaki Ito, Hiromi Murakami, Hidenori Kawasaki, Tomoyuki Akiyama, Katsumi Nakajima, Daisuke Yabe, Taizo Yamamoto   +11 more
doaj   +1 more source

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections [PDF]

, 2003
Bamiou, DE, Bhattacharya, SS, Bird, AC, Cheetham, ME, Downes, SM, Ebenezer, ND, Hardcastle, AJ, Holder, GE, Jenkins, SA, Patel, RJ, Webster, AR, Zito, I   +11 more
core   +2 more sources

Osteoporosis in young adults: pathophysiology, diagnosis, and management [PDF]

, 2018
Postmenopausal osteoporosis is mainly caused by increased bone remodeling resulting from estrogen deficiency. Indications for treatment are based on low areal bone mineral density (aBMD, T-score ≤ −2.5), typical fragility fractures (spine or hip), and ...
Adami, S., Bianchi, M., de Vernejoul, M.-C, Eisman, J., Ferrari, S., Foldes, A., Kaufman, J.-M, Stepan, J., Wahl, D.   +8 more
core  

Bone turnover and mineral metabolism in adult patients with hypophosphatasia treated with asfotase alfa [PDF]

, 2021
Lothar Seefried, Dominik Rak, Anna Petryk, Franca Genest   +3 more
openalex   +1 more source

Myopathy with hypophosphatasia. [PDF]

, 1990
Shashi S. Seshia, Stuart Derbyshire, J. C. Haworth, Jan Hoogstraten   +3 more
openalex   +1 more source

Outlook Magazine, Spring 2012 [PDF]

, 2012
https://digitalcommons.wustl.edu/outlook/1186/thumbnail ...

core   +1 more source

SUN-334 Real-World Clinical Profiles of Adults with Hypophosphatasia (HPP) from the Global HPP Registry

, 2020
Kathryn Dahir, Priya S. Kishnani, Anna Petryk, Wolfgang Högler, Agnès Linglart, Gabriel Ángel Martos‐Moreno, Keiichi Ozono, Shona Fang, Cheryl R. Greenberg, Lothar Seefried   +9 more
openalex   +1 more source