Results 121 to 130 of about 1,777 (209)

Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort. [PDF]

Front Genet
Alsagheir A, Mcrabi A, Alquayt M, Alhuthil R, Alawi A, Faqeih E, Alabdullatif AT, Homyani DA, AlJohany A, AlOtaibi M, Rabea M, AlSayed H, Al-Hamed MH.   +12 more
europepmc   +1 more source

A randomized Phase 1b trial evaluating the pharmacodynamics of ilofotase alfa in adults with hypophosphatasia. [PDF]

J Bone Miner Res
Seefried L, Bernholz J, Kraan M, Nitschke Y, Rutsch F, Mallek M, Kleinert S, Genest F.   +7 more
europepmc   +1 more source

Hypophosphatasia: 90 Years from a Canadian Discovery-A Comprehensive Review of the <i>ALPL</i> Gene Underlying Rathbun's Syndrome. [PDF]

Genes (Basel)
Sergi CM.
europepmc   +1 more source

Hypophosphatasia: low penetrance of pathogenic and likely-pathogenic ALPL variants identified through an unselected biorepository. [PDF]

J Bone Miner Res
Dahir KM, Below JE, Liu J, Javid A, Wang G, Bastarache L.   +5 more
europepmc   +1 more source

The Clinical Spectrum of Hypophosphatasia in Older Adults. [PDF]

Clin Case Rep
Valdez Navarro E, Wong EM, Tile L, Cheung AM.   +3 more
europepmc   +1 more source

CONTENTS [PDF]

, 2009

core   +1 more source

Functional and <i>In Silico</i> Characterization of ALPL Gene Variants Reveals Genotype-Phenotype Correlations in Italian Hypophosphatasia Patients. [PDF]

Cells
Casamassima G, Grieco AM, Biagini T, Buono G, Cinque L, Pugliese F, Guerra FP, Petrizzelli F, Mastroianno M, Mazza T, Castori M, Scillitani A, Guarnieri V.   +12 more
europepmc   +1 more source

Physiologic and pathologic functions of the NPP nucleotide pyrophosphatase/phosphodiesterase family focusing on NPP1 in calcification [PDF]

, 2006
Robert Terkeltaub, SC Robson, T Vorhoff, P Deterre, C Stefan, V Bello, S Hickman, JW Goding, JW Goding, S Jansen, LA Meeteren van, A Cimpean, K Johnson, GG Durgam, WH Moolenaar, E Koh, KA Johnson, SM Vaingankar, K Johnson, R Terkeltaub, A Okawa, L Hessle, AM Ho, N Ruf, F Rutsch, F Rutsch, F Rutsch, HC Anderson, Y Kobayashi, K Johnson, K Johnson, K Johnson, BA Derfus, D Harmey, K Johnson, K Johnson, W Wang, GR Beck Jr, GR Beck Jr, MJ Rogers, T Fujita, AM Ho, S Kalya, M Lotz, F Rosen, K Johnson, M Murshed, JC Costello, K Johnson, I Masuda, I Masuda, J Hirose, K Johnson, I Nakamura, Y Koshizuka, M Tahara, K Mori, K Johnson, KA Lomashvili, CJ Williams, Y Zhang, E Reichenberger, P Nurnberg, I Malkin, EK Suk, H Dong, JA Morrison, R Gijsbers, V Stefanovic, D Meyre   +69 more
core   +1 more source

Delayed Diagnosis of Suspected Osteogenesis Imperfecta in a Young Adult with Recurrent Low-Energy Fractures: A Case Report. [PDF]

Cureus
Drari S, Baba Z, Mougui A, El Bouchti I.
europepmc   +1 more source

Neonatal Multiple Bone Fractures: A Case Report of Hypophosphatasia. [PDF]

Case Rep Endocrinol
Homyani DKA, Hemaiani SKA, Harthi QQA, Zahrani RA, Qarni ASA.   +4 more
europepmc   +1 more source