Results 71 to 80 of about 5,366 (132)

Prenatally Detected Neonatal Neuroblastoma Associated with Achondroplasia and an SDHA Variant. [PDF]

Neurol Int
Petleshkova P, Anesteva-Ivanova N, Krasteva M, Parahuleva N, Ivanov A, Ivanov H, Mihaylova A.   +6 more
europepmc   +1 more source

Healthcare and Psychosocial Needs in Achondroplasia Across the Lifespan: Developmental Functioning, Multidisciplinary Care, and Family-Centered Outcomes. [PDF]

Healthcare (Basel)
Șerban RC, Mitut-Veliscu A, Dumitra A, Marica L, Popescu C, Costache A, Teona Ș, Riza AL, Dirnu R, Pluta ID, Varut RM, Streata I.   +11 more
europepmc   +1 more source

From FGFR3 Hyperactivation to Disease-Modifying Therapy in Pediatric Achondroplasia: Molecular Mechanisms, Clinical Evidence, and Emerging Treatments. [PDF]

Children (Basel)
Șerban RC, Mitut-Veliscu A, Dumitra A, Marica L, Popescu C, Costache A, Teona Ș, Riza AL, Dirnu R, Varut RM, Streață I.   +10 more
europepmc   +1 more source

The QOLA study: psychometric validation of the Quality of Life of Parents of Children with Achondroplasia (QOLA) questionnaire - a multinational study in Germany, Italy, and Portugal. [PDF]

J Patient Rep Outcomes
Adedeji A, Witt S, Maric L, Salomao M, Innig F, Alves I, Provasi C, Sessa M, Mohnike K, Quitmann J.   +9 more
europepmc   +1 more source

A Case of Inadvertent Overdose of Vosoritide Injection in a Three-Month-Old Infant With Achondroplasia. [PDF]

Cureus
Satake S, Oda Y.
europepmc   +1 more source

Navepegritide in children with achondroplasia. [PDF]

Transl Pediatr
Semler O, Hoyer-Kuhn H.
europepmc   +1 more source

Dosing challenges for chemotherapy and immunotherapy in congenital achondroplasia: a case report and literature review. [PDF]

Cancer Chemother Pharmacol
Groot Beumer KWM, Durlinger EMJ, Zielhuis SWJ, Ter Heine R, Huitema ADR, Hendrikx JJMA.   +5 more
europepmc   +1 more source

Pregnancy and related complications in achondroplasia: a scoping review. [PDF]

BMC Pregnancy Childbirth
Shah K, Sheth K, Shah D, Shah H.
europepmc   +1 more source

Early initiation of therapy with vosoritide: case report. Description of the first Italian patient affected by achondroplasia treated with vosoritide before 2 years of age. [PDF]

Front Pediatr
Kalapurackal MA, Wanker P.
europepmc   +1 more source

Diagnostic guide to hypochondroplasia. [PDF]

Clin Pediatr Endocrinol
Kubota T, Nishimura G, Kitoh H, Ohata Y, Isojima T, Okada K, Dateki S, Hasegawa K, Fujiwara I, Matsushita M, Namba N, Ozono K, Michigami T.   +12 more
europepmc   +1 more source