Gaucher Disease Type 2 Latest Advances

Find the Latest Research About Gaucher Disease Type 2

Last Updated: 09/19/2026

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Found 65 publications

Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India.

Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India.

Journal: BMC pediatrics
Published: April 02, 2026

Exploring the long-term use of ambroxol in Gaucher disease type 2: insights from two pediatric cases.

Exploring the long-term use of ambroxol in Gaucher disease type 2: insights from two pediatric cases.

Journal: Frontiers in neurology
Published: August 22, 2025

250 cases of "type 2 Gaucher disease": A novel system of clinical categorisation and evidence of genotype: Phenotype correlation.

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.

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.

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.

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.

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.

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).

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.

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.

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.

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
Showing 1-12 of 65

Last Updated: 09/19/2026