ey0019.13-14 | Endocrinology | ESPEYB19
13.14. Invaluable role of consanguinity in providing insight into paediatric endocrine conditions: lessons learnt from congenital hyperinsulinism, monogenic diabetes, and short stature
SA Amaratunga , TH Tayeb , P Dusatkova , S Pruhova , J Lebl
ey0017.4-11 | New perspectives | ESPEYB17
4.11. NPR2 Variants are frequent among children with familial short stature and respond well to growth hormone therapy
L Plachy , P Dusatkova , K Maratova , L Petruzelkova , D Zemkova , L Elblova , P Kucerova , L Toni , S Kolouskova , M Snajderova , Z Sumnik , J Lebl , S Pruhova
ey0016.4-3 | Important for Clinical Practice | ESPEYB16
4.3. High prevalence of growth plate gene variants in children with familial short stature treated with growth hormone
L Plachy , V Strakova , L Elblova , B Obermannova , S Kolouskova , M Snajderova , D Zemkova , P Dusatkova , Z Sumnik , J Lebl , S Pruhova
ey0017.3-12 | Clinical trials for thyroid disease | ESPEYB17
3.12. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial
S Groeneweg , RP Peeters , C Moran , A Stoupa , F Auriol , D Tonduti , A Dica , L Paone , K Rozenkova , J Malikova , A van der Walt , IFM de Coo , A McGowan , G Lyons , FK Aarsen , D Barca , IM van Beynum , MM van der Knoop , J Jansen , M Manshande , RJ Lunsing , S Nowak , CA den Uil , MC Zillikens , FE Visser , P Vrijmoeth , MCY de Wit , NI Wolf , A Zandstra , G Ambegaonkar , Y Singh , YB de Rijke , M Medici , ES Bertini , S Depoorter , J Lebl , M Cappa , L De Meirleir , H Krude , D Craiu , F Zibordi , I Oliver Petit , M Polak , K Chatterjee , TJ Visser , WE Visser
ey0018.3-13 | Clinical studies | ESPEYB18
3.13. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
S Groeneweg , FS van Geest , A Abacı , A Alcantud , GP Ambegaonkar , CM Armour , P Bakhtiani , D Barca , ES Bertini , IM van Beynum , N Brunetti-Pierri , M Bugiani , M Cappa , G Cappuccio , B Castellotti , C Castiglioni , K Chatterjee , IFM de Coo , R Coutant , D Craiu , P Crock , C DeGoede , K Demir , A Dica , P Dimitri , A Dolcetta-Capuzzo , MHG Dremmen , R Dubey , A Enderli , J Fairchild , J Gallichan , B George , EF Gevers , A Hackenberg , Z Halasz , B Heinrich , T Huynh , A Kłosowska , MS van der Knaap , MM van der Knoop , D Konrad , DA Koolen , H Krude , A Lawson-Yuen , J Lebl , M Linder-Lucht , CF Lorea , CM Lourenco , RJ Lunsing , G Lyons , J Malikova , EE Mancilla , A McGowan , V Mericq , FM Lora , C Moran , KE Muller , I Oliver-Petit , L Paone , PG Paul , M Polak , F Porta , FO Poswar , C Reinauer , K Rozenkova , TS Menevse , P Simm , A Simon , Y Singh , M Spada , J van der Spek , MAM Stals , A Stoupa , GM Subramanian , D Tonduti , S Turan , CA den Uil , J Vanderniet , A van der Walt , JL Wemeau , J Wierzba , MY de Wit , NI Wolf , M Wurm , F Zibordi , A Zung , N Zwaveling-Soonawala , WE Visser
ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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