Abstract Search

ey0015.4-6 | New therapeutic options | ESPEYB15

4.6 Final adult height in long-term growth hormone-treated achondroplasia patients

D Harada , N Namba , Y Hanioka , K Ueyama , N Sakamoto , Y Nakano , M Izui , Y Nagamatsu , H Kashiwagi , M Yamamuro , Y Ishiura , A Ogitani , Y Seino

To read the full abstract: Eur J Pediatr 2017; 176:873-879Achondroplasia (ACH) is the most common genetic form of disproportionate short stature, occurring in 1:15,000 –1:40,000 live births [28]. Most patients have a gain of function mutation in the transmembrane domain of the fibroblast growth factor receptor 3 (FGFR3), leading to prolonged intracellular MAPK signalin...

0 shares

ey0017.4-3 | Important for clinical practice | ESPEYB17

4.3. IGF2 Mutations

Y Masunaga , T Inoue , K Yamoto , Y Fujisawa , Y Sato , Y Kawashima-Sonoyama , N Morisada , K Iijima , Y Ohata , N Namba , H Suzumura , R Kuribayashi , Y Yamaguchi , H Yoshihashi , M Fukami , H Saitsu , M Kagami , T Ogata

To read the full abstract: J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz034.Using different genetic approaches, the authors identified 5 novel pathogenic or likely pathogenic IGF2 gene variants in Japanese patients who underwent genetic testing for the variable associations of multiple congenital anomalies such as mental retardation, Silver-Russell syndrome (SRS), disorders of sex development (DSD), ectrodactyly (split hand/foot malfor...

0 shares

ey0016.5-8 | Clinical Advances in Treatment | ESPEYB16

5.8. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

EA Imel , FH Glorieux , MP Whyte , CF Munns , LM Ward , O Nilsson , JH Simmons , R Padidela , N Namba , HI Cheong , P Pitukcheewanont , E Sochett , W Hogler , K Muroya , H Tanaka , GS Gottesman , A Biggin , F Perwad , M Mao , CY Chen , A Skrinar , J San Martin , AA Portale

Abstract: Lancet. 2019 May 16.In brief: In a randomised, active-controlled, open-label, phase 3 trial, burosumab (an anti-FGF23 antibody) demonstrated significantly greater clinical improvements in rickets severity, growth, and biochemistries among children with X-linked hypophosphataemia compared with continuation of conventional therapy with oral phosphate and active vitamin D ...

0 shares

ESPE Yearbook of Paediatric Endocrinology

4.6 Final adult height in long-term growth hormone-treated achondroplasia patients

4.3. IGF2 Mutations

5.8. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

BiosciAbstracts