Results 191 to 200 of about 66,619 (264)

XLH Matters 2024: expert insights and practical tools for enhancing care of people living with X-linked hypophosphataemia. [PDF]

Orphanet J Rare Dis
Seefried L, Alzahrani AS, Wagner CA, Eade D, Fintini D, Haffner D, Frookh Jamal H, Bubbear JS, Guazzarotti L, Cheung MS, Abid N, Costa-Reis P, Ferreira Santos R, Beck-Nielsen SS, Linglart A.   +14 more
europepmc   +1 more source

X-Linked Hypophosphatemia in a Family Cohort: Clinical Variability, Genetic Confirmation and Modern Therapeutic Perspectives. [PDF]

J Clin Med
Popa O, Balaș M, Golu I, Amzăr D, Dorogi C, Vlad M.   +5 more
europepmc   +1 more source

X-linked hypophosphatemia and tumor-induced osteomalacia: a narrative review and expert opinion on the diagnostic and therapeutic challenges in the era of burosumab. [PDF]

Orphanet J Rare Dis
Brandi ML, Vainicher CE, Fintini D, Giusti A, Magnolato A, Minisola S, Giannini S.   +6 more
europepmc   +1 more source

Refractory Hypophosphatemia Secondary to Tumor-Induced Osteomalacia: Diagnostic Challenges and Successful Management With Burosumab. [PDF]

Cureus
Ramzan A, Lodhi FAK, Ramzan F.
europepmc   +1 more source

Case report of an infant with severe vitamin D deficiency rickets manifested as hypocalcemic seizures

, 2016
Biljana Vuletić, Slavica Marković, Zoran Igrutinović, Vladimir Radlović, Zorica Rašković, Jelena Tanaskovic-Nestorovic, Aleksandra Simović   +6 more
openalex   +2 more sources

Novel Variants and Clinical Heterogeneity in Pediatric Calcium Metabolism Disorders Identified Through High-Yield Tiered Genetic Testing in a Taiwanese Cohort. [PDF]

Medicina (Kaunas)
Kang TY, Chou YY, Chang YM, Pan YW, Tsai MC.   +4 more
europepmc   +1 more source

Atypical Fracture From Bisphosphonate Use in Hypophosphatasia With Improved Bone Response to Teriparatide Therapy. [PDF]

JCEM Case Rep
Mora Garzon E, Betancourt Zuluaga D, Salazar Ospina JD, López Velásquez S.   +3 more
europepmc   +1 more source

A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy. [PDF]

Calcif Tissue Int
Lim WT, Nenke M, Rawlings L, Wells A, Vakulin C, Waters W, De Sousa S.   +6 more
europepmc   +1 more source

Nephrocalcinosis tendency does not worsen under burosumab treatment for X-linked hypophosphatemic rickets: a multicenter pediatric study

Shelly Levi, Daniel Landau, Miriam Davidovits, Mika Shapira Rootman, Avivit Brener, Shoshana Gal, Yael Borovitz, Ori Goldberg, Rachel Bello, Roxana Cleper, Yael Lebenthal, Yael Levy‐Shraga, Dov Tiosano, Adi Chezana, Ravit Regev, Leonid Zeitlin   +15 more
openalex   +1 more source