Associated Papers
Atypical case of neonatal-onset Gaucher disease type 3b: A case report.
Onuki T et al.
Molecular Genetics and Metabolism Reports, 2025
Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study.
Çalışkan AR et al.
Journal of Personalized Medicine, 2025
Exploring the long-term use of ambroxol in Gaucher disease type 2: insights from two pediatric cases.
Aries C et al.
Frontiers in Neurology, 2025
Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.
Sako S et al.
Human Genome Variation, 2024
Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2.
Aries C et al.
Frontiers in Neurology, 2022
Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.
Du X et al.
Medicine, 2018
Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.
Bulut FD et al.
Metabolic Brain Disease, 2018
Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review.
den Hollander B et al.
Molecular Genetics and Metabolism, 0
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