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Last Updated: 10/31/2025
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Found 63 publications
250 cases of "type 2 Gaucher disease": A novel system of clinical categorisation and evidence of genotype: Phenotype correlation.
Journal: Molecular genetics and metabolism
Published: February 23, 2025
Tongue Fasciculations and Upper Motor Neuron Signs in Infantile-Onset Type 2 Gaucher Disease: Authors' Reply.
Journal: Indian journal of pediatrics
Published: November 16, 2024
Tongue Fasciculations and Upper Motor Neuron Signs in Infantile-Onset Type 2 Gaucher Disease: Correspondence.
Journal: Indian journal of pediatrics
Published: October 18, 2024
Tongue Fasciculations and Upper Motor Neuron Signs in Infantile-Onset Type 2 Gaucher Disease.
Journal: Indian journal of pediatrics
Published: August 07, 2024
Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review.
Journal: Molecular genetics and metabolism
Published: April 08, 2024
Cost-effectiveness of ambroxol in the treatment of Gaucher disease type 2.
Journal: Open medicine (Warsaw, Poland)
Published: January 10, 2024
A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).
Journal: Orphanet journal of rare diseases
Published: December 18, 2023
Interaction with ERp57 is required for progranulin protection against Type 2 Gaucher disease.
Journal: Bioscience trends
Published: March 08, 2023
Gaucher Disease Type 2 Manifested as Hemophagocytic Lymphohistiocytosis in a Neonate in the COVID-19 Era.
Journal: Journal of pediatric hematology/oncology
Published: May 08, 2022
A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation.
Journal: Metabolic brain disease
Published: November 17, 2021
The natural history of type 2 Gaucher disease in the 21st century: A retrospective study.
Journal: Neurology
Published: January 16, 2020
Novel compounds that reverse the disease phenotype in Type 2 Gaucher disease patient-derived cells.
Journal: Bioorganic & medicinal chemistry letters
Published: October 07, 2019
Last Updated: 10/31/2025