Results 131 to 140 of about 1,777 (209)

Correction to "Revisiting the Genetics of Hypophosphatasia". [PDF]

J Inherit Metab Dis
europepmc   +1 more source

Spectrum of Osteoporosis Etiologies with Associated Vertebral Compression Fractures in Children: Analysis of 11 Cases. [PDF]

J Clin Med
Aszkiełowicz S, Łupińska A, Michałus I, Zygmunt A, Stawerska R.   +4 more
europepmc   +1 more source

Hypophosphatasia and neuropathic pain: related to vitamin B6 metabolism? [PDF]

JBMR Plus
Zervou Z, van Velsen EFS, Zillikens MC.
europepmc   +1 more source

Comprehensive treatment approaches for skeletal deformities in hypophosphatasia: a case study of <i>ALPL</i> gene variants. [PDF]

Front Pediatr
Jiao Q, Ma G, Ni Q.
europepmc   +1 more source

Case Report: Suboptimal response to standard-dose asfotase alfa in perinatal hypophosphatasia indicates a need for individualized dosing. [PDF]

Front Endocrinol (Lausanne)
Petković Ramadža D, Žigman T, Čavka M, Barić I.   +3 more
europepmc   +1 more source

ALPL genotypes in patients with atypical femur fractures or other biochemical and clinical signs of hypophosphatasia [PDF]

, 2022
and Maria Luisa Brandi,, Cianferotti, Luisella, Emmanuel, Biver, Federica, Cioppi, Giovanni, Iolascon, Giuseppe, Toro, Giusti, Francesca, Iantomasi, Teresa, Laura, Masi, Marcucci, Gemma, Marini, Francesca, Simone, Ciuffi   +11 more
core  

Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia. [PDF]

Indian J Endocrinol Metab
Dhananjaya MS, Thrupti S, Reddy HV, Nadig A, Adarsh KS, Jadhav S, Lalitha P, Nair S, Bhattacharyya S, Lila A, Sarathi V.   +10 more
europepmc   +1 more source

Atypical femur fractures: a distinctive tract of adult hypophosphatasia. [PDF]

, 2017
Brandi, Ml
core   +1 more source

Novel Insights From In Silico Analysis of Biallelic ALPL (c.1001G/A and c.571G/A) in Two Mennonite Families Leading to Hypophosphatasia. [PDF]

Cureus
Salinas-Torres VM, Salinas-Torres RA, Velarde-Felix JS, Rufino-Serralde Y, Roeniger-Desatnik A, Villagrán-Luján MA, Mata-Martínez AB, Ramírez-Zenteno J.   +7 more
europepmc   +1 more source

Hypophosphatasia-pathophysiological understanding, preclinical data looking beyond the skeleton, and upcoming treatments. [PDF]

J Bone Miner Res
Millán JL.
europepmc   +1 more source