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ey0016.2-2 | Neonatal Hypoglycaemia | ESPEYB16

2.2. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals

KL Yap , AEK Johnson , D Fischer , P Kandikatla , J Deml , V Nelakuditi , S Halbach , GS Jeha , LC Burrage , O Bodamer , VC Benavides , AM Lewis , S Ellard , P Shah , D Cody , A Diaz , A Devarajan , L Truong , SAW Greeley , DD De Leon , AC Edmondson , S Das , P Thornton , D Waggoner , D Del Gaudio

To read the full abstract: Genet Med. 2019 Jan;21(1):233242.This study documented the clinical features and molecular diagnoses of 9 infants with persistent hyperinsulinism and Kabuki syndrome via a combination of sequencing and copy-number profiling methodologies.KS is characterized by typical facial features (long palpebral fissures with eversion of the lat...

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ey0017.14-10 | (1) | ESPEYB17

14.10. Low-dose aspirin for the prevention of preterm delivery

MK Hoffman , SS Goudar , BS Kodkany , M Metgud , M Somannavar , J Okitawutshu , A Lokangaka , A Tshefu , CL Bose , A Mwapule , M Mwenechanya , E Chomba , WA Carlo , J Chicuy , L Figueroa , A Garces , NF Krebs , S Jessani , F Zehra , S Saleem , RL Goldenberg , K Kurhe , P Das , A Patel , PL Hibberd , E Achieng , P Nyongesa , F Esamai , EA Liechty , N Goco , J Hemingway-Foday , J Moore , TL Nolen , EM McClure , M Koso-Thomas , M Miodovnik , R Silver , RJ Derman , ASPIRIN Study Group

To read the full abstract: Lancet. 2020 Jan 25;395(10220):285-293. doi: 10.1016/S0140-6736(19)32973-3.This randomised, placebo-controlled trial (ASPIRIN) in 11,976 nulliparous women in six low or middle-income countries (India, Democratic Republic of the Congo, Guatemala, Kenya, Pakistan, and Zambia) found that low-dose aspirin (81 mg daily from early pregnancy) reduced t...

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ESPE Yearbook of Paediatric Endocrinology

2.2. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals

14.10. Low-dose aspirin for the prevention of preterm delivery

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