Results 1 to 10 of about 37,886 (216)

A new metabolic path in type 3 rickets. [PDF]

FEBS J
Senda T, Hirota Y.
europepmc   +1 more source

Effectiveness, safety, and pharmacokinetics of burosumab in Chinese children with X-linked hypophosphatemia: an open-label, single-arm phase 4 study. [PDF]

JBMR Plus
Wu W, Jiang Y, Zhang Z, Liu L, Qiu W, Ji Y, Sugimoto M, Yung C, Qiu C, Kuriki M, Luo X, Xia W.   +11 more
europepmc   +1 more source

Incidence and clinical characteristics of pediatric vitamin D deficiency in Hokkaido, Japan: A survey of cases diagnosed between 2015 and 2019. [PDF]

Clin Pediatr Endocrinol
Fukui S, Miyoshi T, Tsubota T, Kokumai T, Suzuki S, Tanahashi Y.   +5 more
europepmc   +1 more source

The PHEX deletion variant (p.Thr605MetfsTer14) causes X-linked hypophosphatemic rickets by reducing protein expression and promoting mineralization. [PDF]

Orphanet J Rare Dis
Gan Z, Zheng M, Guo C, He F, Zheng Y, Li J, Li C, Yang F, Song Q, Chang Q, Liu Q, Xiong F, Xie H.   +12 more
europepmc   +1 more source

Early-onset blount's disease in a two-year-old child. [PDF]

Pak J Med Sci
Asad N, Shamsi NI.
europepmc   +1 more source

Beyond Nutritional Deficiency: Persistent Rickets as a Manifestation of Vitamin D-Dependent Rickets Type II in a Toddler. [PDF]

Clin Case Rep
Jha A, Yadav A, Jha US, Shah P, Shah RK, Timilsina K, Jha P, Dahal A, Bagale S.   +8 more
europepmc   +1 more source

Burosumab for X-linked Hypophosphataemia and Tumour-induced Osteomalacia in Adults. [PDF]

touchREV Endocrinol
Black S, Keen R, Bubbear J.
europepmc   +1 more source

Real-world effectiveness of burosumab across age groups: X-linked hypophosphatemia (XLH) Disease Monitoring Program.

J Clin Endocrinol Metab
Ward LM, Carpenter TO, Cassinelli H, Florenzano P, Imel EA, Khan AA, Johnson B, Yang E, Vincent M, Heerssen HM, Li Z, Simmons JH.   +11 more
europepmc   +1 more source