A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative von Collin-Histed, Tanya, Stoodley, Madeline, Beusterien, Kathleen, Elstein, Deborah, Jaffe, Dena H, Revel-Vilk, Shoshana, Davies, Elin Haf

Volltext

Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher dis... von Rolfs, Arndt, Giese, Anne-Katrin, Grittner, Ulrike, Mascher, Daniel, Elstein, Deborah, Zimran, Ari, Böttcher, Tobias, Lukas, Jan, Hübner, Rayk, Gölnitz, Uta, Röhle, Anja, Dudesek, Ales, Meyer, Wolfgang, Wittstock, Matthias, Mascher, Hermann

Volltext

The effects of maternal age and parity on maternal and neonatal outcome von Schimmel, Michael S., Bromiker, Ruben, Hammerman, Cathy, Chertman, Lila, Ioscovich, Alexander, Granovsky-Grisaru, Sorina, Samueloff, Arnon, Elstein, Deborah

Volltext

Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials von Elstein, Deborah, Belmatoug, Nadia, Deegan, Patrick, Göker-Alpan, Özlem, Hughes, Derralynn A, Schwartz, Ida Vanessa D, Weinreb, Neal, Bonner, Nicola, Panter, Charlotte, Fountain, Donna, Lenny, Andrew, Longworth, Louise, Miller, Rachael, Shah, Koonal, Schenk, Jörn, Sen, Rohini, Zimran, Ari

Volltext

The emergence of Parkinson disease among patients with Gaucher disease von Elstein, Deborah, PhD, Alcalay, Roy, MD, Zimran, Ari, MD

Volltext

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... von Elstein, Deborah, Giugliani, Roberto, Muenzer, Joseph, Schenk, Jörn, Schwartz, Ida V.D., Anagnostopoulou, Christina

Volltext

The association between ABO blood group and obstetric hemorrhage von Drukker, Lior, Srebnik, Naama, Elstein, Deborah, Levitt, Lorinne, Samueloff, Arnon, Farkash, Rivka, Grisaru-Granovsky, Sorina, Sela, Hen Y.

Volltext

FindZebra online search delving into rare disease case reports using natural language processing von Liévin, Valentin, Hansen, Jonas Meinertz, Lund, Allan, Elstein, Deborah, Matthiesen, Mads Emil, Elomaa, Kaisa, Zarakowska, Kaja, Himmelhan, Iris, Botha, Jaco, Borgeskov, Hanne, Winther, Ole

Volltext

Effect of Miglustat on Bone Disease in Adults with Type 1 Gaucher Disease: A Pooled Analysis of Three Multinational, Open-Label Studies von Pastores, Gregory M., MD, Elstein, Deborah, PhD, Hrebícek, Martin, PhD, Zimran, Ari, MD

Volltext

Review of the safety and efficacy of imiglucerase treatment of Gaucher disease von Elstein, Deborah, Zimran, Ari

Volltext

Gaucher disease and the clinical experience with substrate reduction therapy von Zimran, Ari, Elstein, Deborah

Volltext

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease von Zimran, Ari, Altarescu, Gheona, Elstein, Deborah

Volltext

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease von Yildiz, Yildiz, Hoffmann, Per, Vom Dahl, Stefan, Breiden, Bernadette, Sandhoff, Roger, Niederau, Claus, Horwitz, Mia, Karlsson, Stefan, Filocamo, Mirella, Elstein, Deborah, Beck, Michael, Sandhoff, Konrad, Mengel, Eugen, Gonzalez, Maria C, Nöthen, Markus M, Sidransky, Ellen, Zimran, Ari, Mattheisen, Manuel

Volltext

Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease von Elstein, Deborah, Hughes, Derralynn, Goker-Alpan, Ozlem, Stivel, Miriam, Baris, Hagit N., Cohen, Ian J., Granovsky-Grisaru, Sorina, Samueloff, Arnon, Mehta, Atul, Zimran, Ari

Volltext

Bone Mineral Density in Gravida: Effect of Pregnancies and Breast-Feeding in Women of Differing Ages and Parity von Zimran, Ari, Samueloff, Arnon, Babchenko, Liana, Mishukov, Yuri, Lebel, Ehud, Elstein, Deborah

Volltext

Liver involvement in Gaucher disease – Review and clinical approach von Adar, Tomer, Ilan, Yaron, Elstein, Deborah, Zimran, Ari

Volltext

Achievement of Therapeutic Goals with Low-Dose Imiglucerase in Gaucher Disease: A Single-Center Experience von Altarescu, Gheona, Tukan, Irina, Zimran, Ari, Elstein, Deborah, Abrahamov, Ayala, Hadas-Halpern, Irith

Volltext

Hypertensive disorders of pregnancy and the small for gestational age neonate: not a simple relationship von Grisaru-Granovsky, Sorina, MD, Halevy, Tamar, MD, Eidelman, Arthur, MD, Elstein, Deborah, PhD, Samueloff, Arnon, MD

Volltext

Bone density changes with enzyme therapy for Gaucher disease von LEBEL, Ehud, DWECK, Altoon, FOLDES, A. Joseph, GOLOWA, Yosef, ITZCHAKI, Menachem, ZIMRAN, Ari, ELSTEIN, Deborah

Volltext

Alfa-fetoprotein and albumin levels together are more predictive of severe fetal hydrops von Granovsky-Grisaru, Sorina, MD, Elstein, Deborah, PhD

Volltext