Deborah Elstein

Affiliations

Independent consultant, Jerusalem, Israel.

Publications (5)

Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries.

Molecular genetics and metabolism reports

Avec: Deborah Elstein , Roberto Giugliani , Joseph Muenzer , Jörn Schenk , Ida V D Schwartz , Christina Anagnostopoulou

Plasma adiponectin is a potential biomarker for organ involvement in male Fabry disease patients.

Blood cells, molecules & diseases

Avec: Marina Hovakimyan , Venkata Ajay Narendra Talabattula , Claudia Cozma , Christian Beetz , Arndt Rolfs , Deborah Elstein

Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials.

Orphanet journal of rare diseases

Avec: Deborah Elstein , Nadia Belmatoug , Patrick Deegan , Özlem Göker-Alpan , Derralynn A Hughes , Ida Vanessa D Schwartz , Neal Weinreb , Nicola Bonner , Charlotte Panter , Donna Fountain , Andrew Lenny , Louise Longworth , Rachael Miller , Koonal Shah , Jörn Schenk , Rohini Sen , Ari Zimran

FindZebra online search delving into rare disease case reports using natural language processing.

PLOS digital health

Avec: Valentin Liévin , Jonas Meinertz Hansen , Allan Lund , Deborah Elstein , Mads Emil Matthiesen , Kaisa Elomaa , Kaja Zarakowska , Iris Himmelhan , Jaco Botha , Hanne Borgeskov , Ole Winther

A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative.

Orphanet journal of rare diseases

Avec: Tanya Collin-Histed , Madeline Stoodley , Kathleen Beusterien , Deborah Elstein , Dena H Jaffe , Shoshana Revel-Vilk , Elin Haf Davies , Auteur inconnu

Réseau de co-auteurs

Jörn Schenk 2 collaborations

Roberto Giugliani 1 collaboration

Joseph Muenzer 1 collaboration

Ida V D Schwartz 1 collaboration

Christina Anagnostopoulou 1 collaboration

Marina Hovakimyan 1 collaboration

Venkata Ajay Narendra Talabattula 1 collaboration

Claudia Cozma 1 collaboration

Christian Beetz 1 collaboration

Arndt Rolfs 1 collaboration

Nadia Belmatoug 1 collaboration

Patrick Deegan 1 collaboration

Özlem Göker-Alpan 1 collaboration

Derralynn A Hughes 1 collaboration

Ida Vanessa D Schwartz 1 collaboration

Neal Weinreb 1 collaboration

Nicola Bonner 1 collaboration

Charlotte Panter 1 collaboration

Donna Fountain 1 collaboration

Andrew Lenny 1 collaboration

Louise Longworth 1 collaboration

Rachael Miller 1 collaboration

Koonal Shah 1 collaboration

Rohini Sen 1 collaboration

Ari Zimran 1 collaboration

Valentin Liévin 1 collaboration

Jonas Meinertz Hansen 1 collaboration

Allan Lund 1 collaboration

Mads Emil Matthiesen 1 collaboration

Kaisa Elomaa 1 collaboration

Kaja Zarakowska 1 collaboration

Iris Himmelhan 1 collaboration

Jaco Botha 1 collaboration

Hanne Borgeskov 1 collaboration

Ole Winther 1 collaboration

Tanya Collin-Histed 1 collaboration

Madeline Stoodley 1 collaboration

Kathleen Beusterien 1 collaboration

Dena H Jaffe 1 collaboration

Shoshana Revel-Vilk 1 collaboration

Elin Haf Davies 1 collaboration

None None 1 collaboration