Results 91 to 100 of about 49,432 (164)

De Novo Autosomal Dominant Cutis Laxa Type 3 With Global Developmental Delay and Musculoskeletal Features of Refractory Rickets. [PDF]

Clin Case Rep
Chandan S, Gohri J, Jolly A, Chaurasia M.   +3 more
europepmc   +1 more source

Rickets Secondary to Distal Renal Tubular Acidosis: A Rare Etiology With a Five-Year Follow-Up of Clinical and Radiological Outcomes and Literature Review. [PDF]

Cureus
Nasar H, Nasar I, Ansari MG, Nasar A, Ansari AG.   +4 more
europepmc   +1 more source

Genu Valgum and Lamellar Ichthyosis: Insights into a Rare Presentation. [PDF]

J Orthop Case Rep
Dodeja A, Meshram K, Pande S, Shewale Y, Nevse R.   +4 more
europepmc   +1 more source

Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D-dependent rickets type 2A: A case report. [PDF]

Clin Pediatr Endocrinol
Hasegawa K, Miyake T, Kobashi M, Tetsunaga T, Ago Y, Futagawa N, Miyahara H, Higuchi Y, Morizane S, Tsukahara H.   +9 more
europepmc   +1 more source

Dental Manifestations in Children Affected by Hypophosphatemic Rickets: A Systematic Review and Meta-Analysis. [PDF]

Children (Basel)
Allam A, Cirio S, Elia F, Salerno C, Cagetti MG.   +4 more
europepmc   +1 more source

Cœliac Rickets [PDF]

Proceedings of the Royal Society of Medicine, 1938
G, Slot, P M, Deville
openaire   +3 more sources

Advancing patient evidence in XLH (APEX): rationale and design of a real-world XLH global data unification program. [PDF]

Front Endocrinol (Lausanne)
Brandi ML, Carpenter TO, Fukumoto S, Haffner D, Imel EA, Kanematsu M, McCullough KP, Ozono K.   +7 more
europepmc   +1 more source

Mutant Fam20c knock-in mice recapitulate both lethal and non-lethal human Raine Syndrome. [PDF]

BMC Mol Cell Biol
Chen M, Sun D, Yee SP, Yuan Z, Lin L, Cui B, Wang Y, Liu C, Liu P.   +8 more
europepmc   +1 more source

Real-world characteristics & disease history of patients with X-linked hypophosphatemia before treatment with burosumab. [PDF]

Arch Osteoporos
Dahir KM, Li Z, Heerssen HM, Noman A, Kim J, Zhao Y, Imel EA.   +6 more
europepmc   +1 more source

Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2. [PDF]

JBMR Plus
Ferreira CR, Hackbarth ME, Nitschke Y, Botschen U, Gafni RI, Mughal MZ, Baujat G, Schnabel D, Schou IM, Khursigara G, Reardon O, Burklow TR, Swanner K, Rutsch F.   +13 more
europepmc   +1 more source