ArticleFrontiers in neurology2022
Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2.
Article in Frontiers in neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 35 citations in OpenAlex.
- Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype.The American journal of case reports · 2026Article
- Prodromal Parkinsonian Features in Carriers of Gaucher Disease Compared to Controls.Life (Basel, Switzerland) · 2025Article
- Atypical case of neonatal-onset Gaucher disease type 3b: A case report.Molecular genetics and metabolism reports · 2025Article
- Product Development of High-Dose Ambroxol HCl Capsules for an n-of-1 Clinical Trial Involving Dutch Patients with Gaucher Disease Type 3.Pharmaceutics · 2025Article
- Review
- Cost-effectiveness analysis of ambroxol for the treatment of Chinese patients with Gaucher disease.Frontiers in medicine · 2025Article
- Case Report: Clinical case analysis of gaucher disease management in a resource-limited setting: a single center experience from Kashigar, Xinjiang Uygur Autonomous Region, the Western China.Frontiers in pediatrics · 2025Article
- Exploring the long-term use of ambroxol in Gaucher disease type 2: insights from two pediatric cases.Frontiers in neurology · 2025Article
- Functional Analysis of HumanCells · 2024Article
- Review
- Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies.Frontiers in pharmacology · 2024Review
- Cost-effectiveness of ambroxol in the treatment of Gaucher disease type 2.Open medicine (Warsaw, Poland) · 2024Article
- Changing clinical manifestations of Gaucher disease in Taiwan.Orphanet journal of rare diseases · 2023Article
- Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification.Biomolecules · 2023Review
- Use of Ambroxol as Therapy for Gaucher Disease.JAMA network open · 2023Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gaucher Disease (GD) 2 is a rare inherited lysosomal disorder. Early-onset and rapid progression of neurovisceral symptoms lead to fatal outcome in early childhood. Treatment is symptomatic, a curative therapy is currently not available. This prospective study describes the clinical and biochemical outcome of a GD 2 patient treated with high dose ambroxol from the age of 4 months. Due to progressive hepatosplenomegaly additional enzyme replacement therapy was required 1 year after ambroxol monotherapy was initiated. Detailed clinical follow-up data demonstrated an age-appropriate neurocognitive and motor development but no clear benefit on peripheral organs. Glucosylsphingosine (Lyso-GL1) in cerebrospinal fluid decreased remarkably compared to pre-treatment, whereas Lyso-GL1 and chitotriosidase in blood increased. Ambroxol treatment of patient fibroblasts revealed a significant increase in β-glucocerebrosidase activity
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