ESPE Abstracts

ESPE Abstracts

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Showing page 1 of results 1 - 10 of about 14 pages

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A Case of Neonatal Diabetes Due to Newly Defined Mutation in the GLIS 3 Gene | ESPE2019
Yilmaz Kor; Akbas Emine Demet; Franco Elisa De
http://abstracts.eurospe.org/hrp/0092/hrp0092P2-99
Published: 2019-08-22

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Neonatal Diabetes in Two Siblings with Foxp3 Variant | ESPE2019
Carolina Colombi; Virginia Tornese; Godoy Clara Pott; Sonia Peña; Franco Elisa De; Zelmira Guntsche
http://abstracts.eurospe.org/hrp/0092/hrp0092P2-90
Published: 2019-08-22

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A Case of Neonatal Diabetes with Hyperferritinemia: A Distal PTF1A Enhancer Mutation | ESPE2019
Gülçin Arslan; Sezer ACAR; Özlem Nalbantoglu; Özge Köprülü; Beyhan Özkaya; Franco Elisa De; Sian Ellard; Behzat Özkan
http://abstracts.eurospe.org/hrp/0092/hrp0092P1-27
Published: 2019-08-22

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A Case of Neonatal Diabetes Due to Newly Defined Mutation in the GLIS 3 Gene | ESPE2019
Yilmaz Kor; Akbas Emine Demet; Franco Elisa De
http://abstracts.eurospe.org/hrp/0092/hrp0092p2-99.html
Published: 2019-08-22

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3 hit(s)
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Neonatal Diabetes in Two Siblings with Foxp3 Variant | ESPE2019
Carolina Colombi; Virginia Tornese; Godoy Clara Pott; Sonia Peña; Franco Elisa De; Zelmira Guntsche
http://abstracts.eurospe.org/hrp/0092/hrp0092p2-90.html
Published: 2019-08-22

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A Case of Neonatal Diabetes with Hyperferritinemia: A Distal PTF1A Enhancer Mutation | ESPE2019
Gülçin Arslan; Sezer ACAR; Özlem Nalbantoglu; Özge Köprülü; Beyhan Özkaya; Franco Elisa De; Sian Ellard; Behzat Özkan
http://abstracts.eurospe.org/hrp/0092/hrp0092p1-27.html
Published: 2019-08-22

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Congenital Hyperinsulinism: Clinical and Molecular Characteristics - Fluorine-18-L-Dihydroxyphenylalanine Positron Emission Tomography (F-DOPA PET) Scan Results - Treatment Responses and Short Term Outcomes of 5 Patients | ESPE2018
Hande Turan; Cakir Aydilek Dagdeviren; Atilla Cayir; Franco Elisa De; Sian Ellard; Kerim Sonmezoglu; Oya Ercan; Evliyaoglu Saade
http://abstracts.eurospe.org/hrp/0089/hrp0089p2-p106.htm
Published: 2018-08-28

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A Novel Missense Variant, p.(Thr405Arg), in the SLC19A2 Gene in an Infant with Thiamine Responsive Megaloblastic Anemia Syndrome Presenting with Anemia and Diabetes but with Normal Hearing | ESPE2018
Uroic Anita Spehar; Dragan Milenkovic; Franco Ellisa De; Putarek Natasa Rojnic; Nevena Krnic
http://abstracts.eurospe.org/hrp/0089/hrp0089p2-p102.htm
Published: 2018-08-28

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A Unique IL2RA Mutation Presenting as Neonatal Diabetes, Congenital Hypothyroidism and Sepsis | ESPE2016
Nagesh V. Sri; Andrew Hattersley; Sian Ellard; Franco Elisa De; Sarah Flanagan; Altaf Naseem; A. Ahmed; Tanveer Ahmed; K. Venkat
http://abstracts.eurospe.org/hrp/0086/hrp0086p2-p584.htm
Published: 2016-08-19

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IPEX Syndrome Caused by A Novel Mutation in Foxp3 Gene: A Case Report | ESPE2016
Ngoc Can Thi Bich; Dung Vu Chi; Thao Bui Phuong; Khanh Nguyen Ngoc; Mai Do Thi Thanh; Matthew Johnson; Franco Elisa De; Sian Ell
http://abstracts.eurospe.org/hrp/0086/hrp0086p2-p573.htm
Published: 2016-08-19

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