Results 121 to 130 of about 3,700 (196)

Tissue nonspecific and intestinal alkaline phosphatase crosstalk: a missing link in hypophosphatasia pathophysiology? [PDF]

J Transl Med
Martínez-Heredia L, González-Cejudo T, Andreo-López MC, Contreras-Bolívar V, García-Fontana C, García-Fontana B, Muñoz-Torres M.   +6 more
europepmc   +1 more source

Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations. [PDF]

Hum Genome Var
Li W, Zeng S, Jiang J, Liu B.
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

Corrigendum to "Multigenerational genetic inheritance and clinical characteristics of the rare disease hypophosphatasia in 6 families: A case series" [Bone Rep. 26 (2025) 1-6 (101857)]. [PDF]

Bone Rep
Kannu P, Khan AA, Francis M, Adachi JD.
europepmc   +1 more source

In-utero cell transplantation for hypophosphatasia with gene-edited hESC-derived MSCs in a murine model. [PDF]

Mol Ther Adv
Kitamura N, Hasegawa A, Takahashi-Nakamura A, Kasahara M, Akutsu H, Sago H, Samura O, Okamoto A, Umezawa A.   +8 more
europepmc   +1 more source

Change in fracture rate and healthcare resource utilization among patients with hypophosphatasia following initiation of asfotase alfa: a retrospective US claims database analysis. [PDF]

JBMR Plus
Lyons G, Bates T, Vlasnik J, Wakeford C, Donckels EA, Chan PK, Robinson SB, Dahir KM.   +7 more
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

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

Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework. [PDF]

J Bone Miner Res
Webb RF, McCurry H, Girod A, Hughes M, Wilcox E, Patel M, Broeren EC, Tshering KC, DiStefano M, Botto LD, Burrage LC, Cormier-Daire V, Dong J, Ehmke N, Krakow D, Moosa S, Mortier G, Nagamani S, Pena L, Sanchez-Lara PA, Superti-Furga A, Unger S, Velasco D, Warman ML, Brown K, D'Cunha Burkardt D, Ferreira CR, ClinGen Skeletal Disorders Gene Curation Expert Panel.   +27 more
europepmc   +1 more source