ESPE Abstracts

ESPE Abstracts

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Showing page 1 of results 1 - 9 of about 9 pages

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Pediatric Continuous Metabolic Syndrome Score (PsiMS score): Use in Everyday Clinical Practice | ESPE2018
Rade Vukovic; Ivan Soldatovic; Tatjana Milenkovic; Katarina Mitrovic; Sladjana Todorovic; Ljiljana Plavsic
http://abstracts.eurospe.org/hrp/0089/hrp0089p2-p127.htm
Published: 2018-08-28

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SGPL1 Deficiency Leads to Downregulation of Key Enzymes Within the Steroidogenic Pathway | ESPE2019
Avinaash Maharaj; Eirini Meimaridou; Jack Williams; Tülay Güran; Debora Braslavsky; Louise Metherell; Rathi Prasad
http://abstracts.eurospe.org/hrp/0092/hrp0092FC13.5
Published: 2019-08-22

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SGPL1 Deficiency Leads to Downregulation of Key Enzymes Within the Steroidogenic Pathway | ESPE2019
Avinaash Maharaj; Eirini Meimaridou; Jack Williams; Tülay Güran; Debora Braslavsky; Louise Metherell; Rathi Prasad
http://abstracts.eurospe.org/hrp/0092/hrp0092fc13.5.html
Published: 2019-08-22

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SGPL1 Missense Mutation in an Infant with Primary Adrenal Insufficiency (PAI), Congenital Nephrotic Syndrome, Primary Hypothyroidism and Gonadal Failure | ESPE2018
Avinaash Maharaj; Dean Wallace; Indi Banerjee; Rathi Prasad; Lou Metherell
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p191.htm
Published: 2018-08-28

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Sphingosine-1-Phosphate Lyase (SGPL1) Deficiency is Associated with Mitochondrial Dysfunction | ESPE2018
Avinaash Maharaj; Teisha Bradshaw; Jack Williams; Tulay Guran; Debora Braslavsky; Britta Brugger; Lou Metherell; Rathi Prasad
http://abstracts.eurospe.org/hrp/0089/hrp0089rfc1.3.htm
Published: 2018-08-28

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National UK Guidelines for Screening, Multi-Disciplinary Team Management and Long-Term Follow-Up of Children and Young People (CYP) with Multiple Endocrine Neoplasia Type 1 (MEN1) | ESPE2018
Elizabeth Crowne; Rathi Prasad; Paul Newey; Karin Bradley; Richard Charnley; Helen Doran; Mark Callaway; Jonathan Mayhew; Brian
http://abstracts.eurospe.org/hrp/0089/hrp0089fc9.6.htm
Published: 2018-08-28

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A Novel Stem Cell Model for the Triple A Syndrome | ESPE2018
Costa Alexandra Rodrigues Da; Shamma Qarin; Teisha Y. Bradshaw; David Watson; Rathi Prasad; Michael R. Barnes; Louise A. Methere
http://abstracts.eurospe.org/hrp/0089/hrp0089fc1.6.htm
Published: 2018-08-28

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Novel p.Asn628Ser Heterozygous Mutation in FGFR1 is Associated with Hartsfield Syndrome and Tumoral Calcinosis | ESPE2016
Rathi Prasad; Carole Brewer; Christine Burren
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p119.htm
Published: 2016-08-19

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Mutations in SGPL1, the Gene Encoding Sphingosine-1-Phosphate Lyase, Cause a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome | ESPE2016
Rathi Prasad; Avinaash Maharaj; Eirini Meimaridou; Paul VanVeldhoven; Federica Buonocore; Eliana Barbagaleta; Ignacio Bergada; H
http://abstracts.eurospe.org/hrp/0086/hrp0086fc15.2.htm
Published: 2016-08-19

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