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ey0015.2-8 | MEHMO syndrome is a novel X-linked retardation syndrome associated with neonatal hypoglycaemia, hypopituitarism and early onset diabetes mellitus | ESPEYB15

MEHMO syndrome is an X-linked mental retardation syndrome associated with neonatal hypoglycaemia, hypopituitarism and early onset diabetes mellitus

J Stanik , M Skopkova , D Stanikova , K Brennerova , L Barak , L Ticha , J Hornova , I Klimes , D Gasperikova

To read the full abstract: Physiol Res. 2018 May 4;67(2):331-337See Comment under 2.10...

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ey0016.2-8 | Neonatal Diabetes Mellitus | ESPEYB16

2.8. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

P Bowman , AE Sulen , F Barbetti , J Beltrand , P Svalastoga , E Codner , EH Tessmann , PB Juliusson , T Skrivarhaug , ER Pearson , SE Flanagan , T Babiker , NJ Thomas , MH Shepherd , S Ellard , I Klimes , M Szopa , M Polak , D Iafusco , AT Hattersley , PR Njolstad , Neonatal Diabetes International Collaborative Group. Collaborators (113)

To read the full abstract: Lancet Diabetes Endocrinol. 2018 Aug;6(8)This study describes a 10-year follow-up of a large international multicenter cohort of patients with KCNJ11 permanent neonatal diabetes. It addresses key questions relating to long-term efficacy and safety of sulfonylureas in these patients.The discovery that mutations in the KCNJ11</...

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ey0015.2-9 | MEHMO syndrome is a novel X-linked retardation syndrome associated with neonatal hypoglycaemia, hypopituitarism and early onset diabetes mellitus | ESPEYB15

2.9 EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

M Skopkova , F Hennig , BS Shin , CE Turner , D Stanikova , K Brennerova , J Stanik , U Fischer , L Henden , U Müller , D Steinberger , E Leshinsky-Silver , A Bottani , T Kurdiova , J Ukropec , O Nyitrayova , M Kolnikova , I Klimes , G Borck , M Bahlo , SA Haas , JR Kim , LE Lotspeich-Cole , D Gasperikova , TE Dever , VM Kalscheuer

To read the full abstract: Hum Mutat 2017 Apr;38(4):409-425See Comment under 2.10...

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ESPE Yearbook of Paediatric Endocrinology

MEHMO syndrome is an X-linked mental retardation syndrome associated with neonatal hypoglycaemia, hypopituitarism and early onset diabetes mellitus

2.8. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

2.9 EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

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