ESPE Abstracts

De Novo Formation of Neutralizing IGF-I Antibodies During rhIGF-1 Treatment in a Girl with IGFALS Deficiency as Distinct Adverse Event Interfering with Growth Promotion | ESPE2019
Janna Mittnacht; Thomas Breil; Daniela Choukair; Christin Duffert; Vivian Hwa; Ron Rosenfeld; Markus Bettendorf
http://abstracts.eurospe.org/hrp/0092/hrp0092P1-365
Published: 2019-08-22

De Novo Formation of Neutralizing IGF-I Antibodies During rhIGF-1 Treatment in a Girl with IGFALS Deficiency as Distinct Adverse Event Interfering with Growth Promotion | ESPE2019
Janna Mittnacht; Thomas Breil; Daniela Choukair; Christin Duffert; Vivian Hwa; Ron Rosenfeld; Markus Bettendorf
http://abstracts.eurospe.org/hrp/0092/hrp0092p1-365.html
Published: 2019-08-22

A Novel, Synonymous, Heterozygous, Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor: Causality for Mild Growth Impairment and IGF-I Deficiency in an Affected Patient? | ESPE2018
Alexandra Efthymiadou; Anastasios Papanastasiou; Ioannis Zarkadis; Vivian Hwa; Dionysios Chrysis
http://abstracts.eurospe.org/hrp/0089/hrp0089p2-p208.htm
Published: 2018-08-28

A Cross-Sectional Study of IGF-I Bioavailability Through Childhood and Associations with PAPP-A2, STC2 and Anthropometric Data | ESPE2018
Masanobu Fujimoto; Jane Khoury; Melissa Andrew; Vivian Hwa; Andrew Dauber
http://abstracts.eurospe.org/hrp/0089/hrp0089fc4.4.htm
Published: 2018-08-28

Functional in vitro Characterization of Two Novel Germinal STAT3 Mutations Associated with Short Stature, Immunodeficiency and Autoimmune Disease | ESPE2016
Mariana Gutierrez; Paula Scaglia; Ana Keselman; Lucia Martucci; Liliana Karabatas; Sabina Domene; Miguel Blanco; Nora Sanguinett
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p596.htm
Published: 2016-08-19

Whole Exome Sequencing Identifies a GH1 Gene Mutation Causing Familial Isolated Growth Hormone Deficiency with Normal Peak Growth Hormone Concentrations | ESPE2016
Catalina Cabrera Salcedo; Vivian Hwa; Leah Tyzinski; Melissa Andrew; Philippe Backeljauw; Andrew Dauber
http://abstracts.eurospe.org/hrp/0086/hrp0086rfc14.3.htm
Published: 2016-08-19

PAPP-A2 Gene Mutation Effects on Glucose Metabolism and Bone Mineral Density and Response to Therapy with Recombinant Human IGF-I | ESPE2016
Catalina Cabrera Salcedo; Vivian Hwa; Leah Tyzinski; Melissa Andrew; Halley Wasserman; Philippe Backeljauw; Andrew Dauber
http://abstracts.eurospe.org/hrp/0086/hrp0086fc8.3.htm
Published: 2016-08-19

Clinical and Biochemical Characteristics of a Female Patient with a Novel Homozygous STAT5B Mutation but Lack of Pulmonary Disease | ESPE2015
Gonul Catli; Vivian Hwa; Monique Loseqoot; Berk Ozyilmaz; Neslihan Edeer; Bumin Nuri Dundar; Jan Marteen Wit
http://abstracts.eurospe.org/hrp/0084/hrp0084p2-467.htm
Published: 2015-08-26

Severe IGF1 Deficiency and Multi-Organ Autoimmune Disease Associated with Novel Germline STAT3 Mutations | ESPE2015
Paula Scaglia; Ana Keselman; Mariana Gutierrez; Sabina Domene; Miguel Blanco; Nora Sanguinetti; Liliana Bezrodnik; Giovanni Dani
http://abstracts.eurospe.org/hrp/0084/hrp0084p1-93.htm
Published: 2015-08-26

Heterozygous Dominant Negative STAT5B Variants associated with Short Stature and GH Insensitivity | ESPE2015
Evelien Pease-Gevers; David Neumann; Jurgen Klammt; Shayne Andrew; Julia Kowalczyk; Lou Metherell; Mehul Dattani; Vivian Hwa
http://abstracts.eurospe.org/hrp/0084/hrp0084fc4.1.htm
Published: 2015-08-26