
OpenAlex is a bibliographic catalogue of scientific papers, authors and institutions accessible in open access mode, named after the Library of Alexandria. It's citation coverage is excellent and I hope you will find utility in this listing of citing articles!
If you click the article title, you'll navigate to the article, as listed in CrossRef. If you click the Open Access links, you'll navigate to the "best Open Access location". Clicking the citation count will open this listing for that article. Lastly at the bottom of the page, you'll find basic pagination options.
Requested Article:
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1
Andrea Dardis, Helen Michelakakis, Paula Rozenfeld, et al.
Orphanet Journal of Rare Diseases (2022) Vol. 17, Iss. 1
Open Access | Times Cited: 30
Andrea Dardis, Helen Michelakakis, Paula Rozenfeld, et al.
Orphanet Journal of Rare Diseases (2022) Vol. 17, Iss. 1
Open Access | Times Cited: 30
Showing 1-25 of 30 citing articles:
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
Tarekegn Geberhiwot, Melissa P. Wasserstein, Subadra Wanninayake, et al.
Orphanet Journal of Rare Diseases (2023) Vol. 18, Iss. 1
Open Access | Times Cited: 45
Tarekegn Geberhiwot, Melissa P. Wasserstein, Subadra Wanninayake, et al.
Orphanet Journal of Rare Diseases (2023) Vol. 18, Iss. 1
Open Access | Times Cited: 45
Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson’s disease
Xuxiang Zhang, Heng Wu, Beisha Tang, et al.
Translational Neurodegeneration (2024) Vol. 13, Iss. 1
Open Access | Times Cited: 9
Xuxiang Zhang, Heng Wu, Beisha Tang, et al.
Translational Neurodegeneration (2024) Vol. 13, Iss. 1
Open Access | Times Cited: 9
Challenges in Gaucher disease: Perspectives from an expert panel
Gregory A. Grabowski, Priya S. Kishnani, Roy N. Alcalay, et al.
Molecular Genetics and Metabolism (2025), pp. 109074-109074
Closed Access | Times Cited: 1
Gregory A. Grabowski, Priya S. Kishnani, Roy N. Alcalay, et al.
Molecular Genetics and Metabolism (2025), pp. 109074-109074
Closed Access | Times Cited: 1
Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies
Feda E. Mohamed, Fatma Al‐Jasmi
Frontiers in Pharmacology (2024) Vol. 15
Open Access | Times Cited: 7
Feda E. Mohamed, Fatma Al‐Jasmi
Frontiers in Pharmacology (2024) Vol. 15
Open Access | Times Cited: 7
Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases
Teodoro Jerves Serrano, Jessica I. Gold, James A. Cooper, et al.
Journal of Clinical Medicine (2024) Vol. 13, Iss. 5, pp. 1465-1465
Open Access | Times Cited: 5
Teodoro Jerves Serrano, Jessica I. Gold, James A. Cooper, et al.
Journal of Clinical Medicine (2024) Vol. 13, Iss. 5, pp. 1465-1465
Open Access | Times Cited: 5
Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis
Miriam Giacomarra, Paolo Colomba, Daniele Francofonte, et al.
Journal of Clinical Medicine (2024) Vol. 13, Iss. 5, pp. 1487-1487
Open Access | Times Cited: 5
Miriam Giacomarra, Paolo Colomba, Daniele Francofonte, et al.
Journal of Clinical Medicine (2024) Vol. 13, Iss. 5, pp. 1487-1487
Open Access | Times Cited: 5
Emerging biomarkers in Gaucher disease
Danielle M Luettel, Márcia R. Terluk, Jaehyeok Roh, et al.
Advances in clinical chemistry (2025), pp. 1-56
Closed Access
Danielle M Luettel, Márcia R. Terluk, Jaehyeok Roh, et al.
Advances in clinical chemistry (2025), pp. 1-56
Closed Access
Obstacles to Early Diagnosis of Gaucher Disease
Samantha Nishimura, Charis Ma, Ellen Sidransky, et al.
Therapeutics and Clinical Risk Management (2025) Vol. Volume 21, pp. 93-101
Open Access
Samantha Nishimura, Charis Ma, Ellen Sidransky, et al.
Therapeutics and Clinical Risk Management (2025) Vol. Volume 21, pp. 93-101
Open Access
Acid sphingomyelinase deficiency: Laboratory diagnosis, genetic and epidemiologic aspects of a 50-year French cohort
Roseline Froissart, Magali Pettazzoni, Cécile Pagan, et al.
Molecular Genetics and Metabolism (2025) Vol. 145, Iss. 1, pp. 109081-109081
Closed Access
Roseline Froissart, Magali Pettazzoni, Cécile Pagan, et al.
Molecular Genetics and Metabolism (2025) Vol. 145, Iss. 1, pp. 109081-109081
Closed Access
Perspective Chapter: Next-Generation Sequencing and Variant Cataloging for Screening and Diagnosis of Sphingolipidoses and Mucopolysaccharidoses
Irina Vlasova-St. Louis, Uri Barak, Svetlana F. Khaiboullina
IntechOpen eBooks (2025)
Closed Access
Irina Vlasova-St. Louis, Uri Barak, Svetlana F. Khaiboullina
IntechOpen eBooks (2025)
Closed Access
Never‐Treated, Non Splenectomised Patients With Gaucher Disease (The French GANT Study): The Prospective Follow‐Up
Alberto Nascè, Yann Nguyen, Nadia Belmatoug, et al.
Journal of Inherited Metabolic Disease (2025) Vol. 48, Iss. 2
Closed Access
Alberto Nascè, Yann Nguyen, Nadia Belmatoug, et al.
Journal of Inherited Metabolic Disease (2025) Vol. 48, Iss. 2
Closed Access
Comparative analysis of methods for measuring glucocerebrosidase enzyme activity in patients with Parkinson’s disease with the GBA1 variant
Jin Hwangbo, Myung Jun Lee, Sang Jin Kim, et al.
Frontiers in Neurology (2025) Vol. 16
Open Access
Jin Hwangbo, Myung Jun Lee, Sang Jin Kim, et al.
Frontiers in Neurology (2025) Vol. 16
Open Access
Comprehensive Prenatal Genetic Analysis: From Non-Invasive Prenatal Testing to Whole-Exome Sequencing in a High-Risk Pregnancy with Gaucher Disease—A Case Report and Literature Review
Ileana-Delia Săbău, Laurențiu Camil Bohîlțea, Mihaela Țurcan, et al.
Journal of Mind and Medical Sciences (2025) Vol. 12, Iss. 1, pp. 25-25
Open Access
Ileana-Delia Săbău, Laurențiu Camil Bohîlțea, Mihaela Țurcan, et al.
Journal of Mind and Medical Sciences (2025) Vol. 12, Iss. 1, pp. 25-25
Open Access
Neuronopathic Gaucher disease: Rare in the West, common in the East
Özlem Göker-Alpan, Margarita M. Ivanova
Journal of Inherited Metabolic Disease (2024) Vol. 47, Iss. 5, pp. 917-934
Open Access | Times Cited: 3
Özlem Göker-Alpan, Margarita M. Ivanova
Journal of Inherited Metabolic Disease (2024) Vol. 47, Iss. 5, pp. 917-934
Open Access | Times Cited: 3
Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma
Gianluca Bossù, Laura Pedretti, Lorenzo Bertolini, et al.
Children (2023) Vol. 10, Iss. 5, pp. 869-869
Open Access | Times Cited: 6
Gianluca Bossù, Laura Pedretti, Lorenzo Bertolini, et al.
Children (2023) Vol. 10, Iss. 5, pp. 869-869
Open Access | Times Cited: 6
A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry
Amber Van Baelen, Laurence Roosens, Sylvie Devos, et al.
Molecular Genetics and Metabolism Reports (2023) Vol. 37, pp. 100993-100993
Open Access | Times Cited: 5
Amber Van Baelen, Laurence Roosens, Sylvie Devos, et al.
Molecular Genetics and Metabolism Reports (2023) Vol. 37, pp. 100993-100993
Open Access | Times Cited: 5
Noninvasive DBS-Based Approaches to Assist Clinical Diagnosis and Treatment Monitoring of Gaucher Disease
Cláudia Rossi, Rossella Ferrante, Silvia Valentinuzzi, et al.
Biomedicines (2023) Vol. 11, Iss. 10, pp. 2672-2672
Open Access | Times Cited: 5
Cláudia Rossi, Rossella Ferrante, Silvia Valentinuzzi, et al.
Biomedicines (2023) Vol. 11, Iss. 10, pp. 2672-2672
Open Access | Times Cited: 5
Multidisciplinary Team for Genetic Disorders - Integration with Clinicians and Health-care Professionals
Mounika Endrakanti, Neerja Gupta
Apollo Medicine (2023) Vol. 20, Iss. 2, pp. 144-147
Open Access | Times Cited: 4
Mounika Endrakanti, Neerja Gupta
Apollo Medicine (2023) Vol. 20, Iss. 2, pp. 144-147
Open Access | Times Cited: 4
Type 1 Gaucher’s Disease. A Rare Genetic Lipid Metabolic Disorder Whose Diagnosis Was Concealed by Recurrent Malaria Infections in a 12-Year-Old Girl
Yekosani Mitala, Abraham Birungi, Branchard Mushabe, et al.
Journal of Blood Medicine (2024) Vol. Volume 15, pp. 1-7
Open Access | Times Cited: 1
Yekosani Mitala, Abraham Birungi, Branchard Mushabe, et al.
Journal of Blood Medicine (2024) Vol. Volume 15, pp. 1-7
Open Access | Times Cited: 1
What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview
Rafael Alves Cordeiro, Nilton Salles Rosa Neto, Henrique Ayres Mayrink Giardini
Advances in Rheumatology (2024) Vol. 64, Iss. 1
Open Access | Times Cited: 1
Rafael Alves Cordeiro, Nilton Salles Rosa Neto, Henrique Ayres Mayrink Giardini
Advances in Rheumatology (2024) Vol. 64, Iss. 1
Open Access | Times Cited: 1
CHIT1 at diagnosis predicts faster disability progression and reflects early microglial activation in multiple sclerosis
Jarne Beliën, Stijn Swinnen, Robbe D’hondt, et al.
Nature Communications (2024) Vol. 15, Iss. 1
Open Access | Times Cited: 1
Jarne Beliën, Stijn Swinnen, Robbe D’hondt, et al.
Nature Communications (2024) Vol. 15, Iss. 1
Open Access | Times Cited: 1
The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment
Patryk Lipiński, Anna Tylki‐Szymańska
Diagnostics (2024) Vol. 14, Iss. 12, pp. 1299-1299
Open Access | Times Cited: 1
Patryk Lipiński, Anna Tylki‐Szymańska
Diagnostics (2024) Vol. 14, Iss. 12, pp. 1299-1299
Open Access | Times Cited: 1
6-O-Alkyl 4-methylumbelliferyl-β-D-glucosides as selective substrates for GBA1 in the discovery of glycosylated sterols
Stef Bannink, Kateryna O. Bila, Joosje van Weperen, et al.
Journal of Lipid Research (2024) Vol. 65, Iss. 11, pp. 100670-100670
Closed Access | Times Cited: 1
Stef Bannink, Kateryna O. Bila, Joosje van Weperen, et al.
Journal of Lipid Research (2024) Vol. 65, Iss. 11, pp. 100670-100670
Closed Access | Times Cited: 1
A retrospective and prospective observational study of MRI changes in bone in patients with type 1 Gaucher disease treated with velaglucerase alfa: the EIROS study.
Monia Bengherbia, Marc Berger, Bénédicte Hivert, et al.
Research Square (Research Square) (2024)
Open Access
Monia Bengherbia, Marc Berger, Bénédicte Hivert, et al.
Research Square (Research Square) (2024)
Open Access
Gaucher’s Disease – current state of knowledge and future perspectives?
Katarzyna Szymańska, Julia Krasnoborska, Sylwia Samojedny, et al.
Journal of Education Health and Sport (2024) Vol. 64, pp. 131-148
Open Access
Katarzyna Szymańska, Julia Krasnoborska, Sylwia Samojedny, et al.
Journal of Education Health and Sport (2024) Vol. 64, pp. 131-148
Open Access