Results 211 to 220 of about 9,342 (275)

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

Six cases of <i>ENPP1</i> pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy. [PDF]

JBMR Plus
Collins L, Sandy J, Ly S, Lomax KE, Black S, McKenzie F, Hayes E, Poulton C, Jefferies C, Hunter W, Simm P, Rodda C, Biggin A, Munns C, Siafarikas A.   +14 more
europepmc   +1 more source

Multigenerational genetic inheritance and clinical characteristics of the rare disease hypophosphatasia in 6 families: A case series. [PDF]

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

AI-assisted phenotyping in a zebrafish hypophosphatasia model enables early and precise detection of skeletal alterations. [PDF]

Sci Rep
Hark R, Zürlein S, Nguyen VT, Gust G, Hekel L, Liedtke D.   +5 more
europepmc   +1 more source

Severe Hypercalcemia Associated With Perinatal Hypophosphatasia While Receiving Enzyme Replacement Therapy. [PDF]

JCEM Case Rep
Salama M, Al Nofal A, Tebben P.
europepmc   +1 more source

Mobility and Quality of Life in Children with Paediatric-Onset Hypophosphatasia Treated with Asfotase Alfa: Results from UK Managed Access Agreement. [PDF]

Adv Ther
Padidela R, Bishop N, Arundel P, Fang S, Zygouras A, Mughal MZ, Shaw N, Saraff V.   +7 more
europepmc   +1 more source

Differential Pregnancy Decisions in a Woman With a Recurrent Prenatal Diagnosis of Hypophosphatasia. [PDF]

Cureus
Oguro T, Nagai R, Shimomoto Y.
europepmc   +1 more source

Gene Therapy for Hypophosphatasia: Current Management and Future

Tae Matsumoto, Sonoko Narisawa, José Luis Millán, Koichi Miyake   +3 more
openalex   +2 more sources

Inorganic pyrophosphate disrupts amorphous hydrated bone mineral interfaces in hypophosphatasia

Dillon S, Armiger A, Murgoci A, Skingle L, Tabegna FG, McDonald S, Mumm S, Whyte MP, Garton M, Poole KE, Duer MJ.   +10 more
europepmc   +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