ArticleJournal of inherited metabolic disease2008
Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III.
Article in Journal of inherited metabolic disease, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 41 citations in OpenAlex.
- Mutation Spectrum ofInternational journal of molecular sciences · 2024Article
- Article
- Substrate Reduction Therapy for Krabbe Disease: Exploring the Repurposing of the Antibiotic D-Cycloserine.Frontiers in pediatrics · 2021Article
- Neurological effects of glucocerebrosidase gene mutations.European journal of neurology · 2019Review
- Pharmacotherapy of Gaucher Disease: Current and Future Options.P & T : a peer-reviewed journal for formulary management · 2018Article
- Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports.Journal of medical case reports · 2018Article
- Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report.Journal of medical case reports · 2017Article
- Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders.International journal of molecular sciences · 2016Review
- Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients.Orphanet journal of rare diseases · 2016Article
- Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.Annals of clinical and translational neurology · 2016Article
- Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease.Molecular genetics and metabolism reports · 2016Article
- Imaging of Gaucher disease.World journal of radiology · 2014Review
- Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III.JIMD reports · 2014Article
- Substrate reduction therapy with miglustat for type 1 Gaucher disease: a retrospective analysis from a single institution.Upsala journal of medical sciences · 2012Article
- Article
- Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.Journal of inherited metabolic disease · 2011Review
- Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics.EMBO molecular medicine · 2009Review
- The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts.Molecular therapy : the journal of the American Society of Gene Therapy · 2009Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report three siblings with Gaucher disease type III, born between 1992 and 2004. During this period, new developments resulted in different potential therapies, changing clinical practice. The two eldest siblings received enzyme replacement therapy (ERT) from the age of 24 and 5 months respectively, later followed by an increase in dosage. ERT was combined with substrate reduction therapy (SRT) from the ages of 12 and 8 years, respectively. In the youngest sibling the combination of high-dose ERT and SRT was given from the age of 5 months. The two eldest siblings showed significant neurological impairment from the age of 1.5 years, starting with a convergent strabismus and partial oculomotor apraxia, followed by cognitive decline and an abnormal EEG and BAER. In contrast, the neurological development in the youngest sibling is almost completely normal. At the age of 3 years, cognitive development, EEG and BAER are all normal. Disturbed saccadic eye movements, which were already present at the start of therapy, remained stable. In addition to the clinical efficacy, we report on the biochemical response to therapy. Based on our results, the combination of high-dose ERT and SRT should be considered as a possible therapeutic approach for GD III, especially if started at a young age. Further follow-up studies are necessary to explore the long-term therapeutic effects.
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