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

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.195-11, Article 195

2023

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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 disease patients

PloS one, 2013-11, Vol.8 (11), p.e79732-e79732

2013

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The effects of maternal age and parity on maternal and neonatal outcome

Archives of gynecology and obstetrics, 2015-04, Vol.291 (4), p.793-798

2015

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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, 2022-01, Vol.17 (1), p.9-9, Article 9

2022

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The emergence of Parkinson disease among patients with Gaucher disease

Baillière's best practice & research. Clinical endocrinology & metabolism, 2015-03, Vol.29 (2), p.249-259

2015

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Long-Term Treatment of Gaucher Disease with Velaglucerase Alfa in ERT-Naïve Patients from the Gaucher Outcome Survey (GOS) Registry

Journal of clinical medicine, 2024-05, Vol.13 (10), p.2782

2024

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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, 2021-09, Vol.28, p.100788-100788, Article 100788

2021

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The association between ABO blood group and obstetric hemorrhage

Journal of thrombosis and thrombolysis, 2016-10, Vol.42 (3), p.340-345

2016

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Recent advances in treatment approaches to Gaucher disease

Current pharmaceutical biotechnology, 2011-06, Vol.12 (6), p.854-860

Elstein, Deborah

2011

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

PLOS digital health, 2023-06, Vol.2 (6), p.e0000269-e0000269

2023

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Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry

Journal of clinical medicine, 2024-06, Vol.13 (12), p.3588

2024

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Effect of Miglustat on Bone Disease in Adults with Type 1 Gaucher Disease: A Pooled Analysis of Three Multinational, Open-Label Studies

Clinical therapeutics, 2007-08, Vol.29 (8), p.1645-1654

2007

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Review of the safety and efficacy of imiglucerase treatment of Gaucher disease

Biologics, 2009-01, Vol.3 (default), p.407-417

2009

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Gaucher disease and the clinical experience with substrate reduction therapy

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2003-05, Vol.358 (1433), p.961-966

2003

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Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease

Blood cells, molecules, & diseases, 2013-02, Vol.50 (2), p.134-137

2013

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Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

Orphanet journal of rare diseases, 2013-09, Vol.8 (1), p.151-151

2013

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Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease

The journal of obstetrics and gynaecology research, 2014-04, Vol.40 (4), p.968-975

2014

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Management of Gaucher disease: enzyme replacement therapy

Pediatric endocrinology reviews : PER, 2014-09, Vol.12 Suppl 1, p.82

2014

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Bone Mineral Density in Gravida: Effect of Pregnancies and Breast-Feeding in Women of Differing Ages and Parity

Journal of Osteoporosis, 2014-01, Vol.2014 (2014), p.117-123

2014

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Liver involvement in Gaucher disease – Review and clinical approach

Blood cells, molecules, & diseases, 2018-02, Vol.68, p.66-73

2018

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Achievement of Therapeutic Goals with Low-Dose Imiglucerase in Gaucher Disease: A Single-Center Experience

Advances in Hematology, 2013, Vol.2013 (2013), p.3-8

2013

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Hypertensive disorders of pregnancy and the small for gestational age neonate: not a simple relationship

American journal of obstetrics and gynecology, 2007-04, Vol.196 (4), p.335.e1-335.e5

2007

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Bone density changes with enzyme therapy for Gaucher disease

Journal of bone and mineral metabolism, 2004-11, Vol.22 (6), p.597-601

2004

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Alfa-fetoprotein and albumin levels together are more predictive of severe fetal hydrops

American journal of obstetrics and gynecology, 2007-02, Vol.196 (2), p.e21-e21

2007

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Anesthetic management for oocyte retrieval: An exploratory analysis comparing outcome in in vitro fertilization cycles with and without pre-implantation genetic diagnosis

Journal of human reproductive sciences, 2013-10, Vol.6 (4), p.263-266

2013

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

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 disease patients

The effects of maternal age and parity on maternal and neonatal outcome

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

The emergence of Parkinson disease among patients with Gaucher disease

Long-Term Treatment of Gaucher Disease with Velaglucerase Alfa in ERT-Naïve Patients from the Gaucher Outcome Survey (GOS) Registry

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

The association between ABO blood group and obstetric hemorrhage

Recent advances in treatment approaches to Gaucher disease

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

Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry

Effect of Miglustat on Bone Disease in Adults with Type 1 Gaucher Disease: A Pooled Analysis of Three Multinational, Open-Label Studies

Review of the safety and efficacy of imiglucerase treatment of Gaucher disease

Gaucher disease and the clinical experience with substrate reduction therapy

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease

Management of Gaucher disease: enzyme replacement therapy

Bone Mineral Density in Gravida: Effect of Pregnancies and Breast-Feeding in Women of Differing Ages and Parity

Liver involvement in Gaucher disease – Review and clinical approach

Achievement of Therapeutic Goals with Low-Dose Imiglucerase in Gaucher Disease: A Single-Center Experience

Hypertensive disorders of pregnancy and the small for gestational age neonate: not a simple relationship

Bone density changes with enzyme therapy for Gaucher disease

Alfa-fetoprotein and albumin levels together are more predictive of severe fetal hydrops

Anesthetic management for oocyte retrieval: An exploratory analysis comparing outcome in in vitro fertilization cycles with and without pre-implantation genetic diagnosis

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