<i>ALPL</i> Mutations With Dominant-Negative Effect in Infantile Hypophosphatasia Monozygotic Twins. [PDF]
Hum MutatHao L +7 more
europepmc +1 more source
Experiences with the use of asfotase alfa in three patients with childhood-onset hypophosphatasia. [PDF]
Endocrinol Diabetes Metab Case RepPigliaru F, Noto D, Brandi ML.
europepmc +1 more source
Congenital Hypophosphatasia [PDF]
Proceedings of the Royal Society of Medicine, 1955 openaire +2 more sources
Atypical Fracture From Bisphosphonate Use in Hypophosphatasia With Improved Bone Response to Teriparatide Therapy. [PDF]
JCEM Case RepMora Garzon E +3 more
europepmc +1 more source
Hypophosphatasia: low penetrance of pathogenic and likely-pathogenic ALPL variants identified through an unselected biorepository. [PDF]
J Bone Miner ResDahir KM +5 more
europepmc +1 more source
Neonatal hypophosphatasia: a case report of a rare genetic disorder. [PDF]
BMC PediatrVohra WI, Chohan N, Mirza A.
europepmc +1 more source
Mechanobiology of hypertrophic chondrocyte mineralization: Biomechanical regulation and therapeutic implications in skeletal disorders. [PDF]
Mechanobiol MedLiu Y, Xu G, Shen Y, Fu S, Qin A.
europepmc +1 more source
Osteogenesis Imperfecta Type 4 With COL1A2 c.1135G>A (p.Gly379Arg) Variant: Unmodified by Concurrent ALPL c.1559delT (p.Leu520ArgfsTer86) Carrier Status: A Case Report. [PDF]
CureusNomura K +4 more
europepmc +1 more source
Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants. [PDF]
J Bone Miner ResMontero-Lopez R +18 more
europepmc +1 more source