Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease

Type 3 Gaucher disease (GD3) is characterized by progressive neurological features in addition to the typical systemic manifestations. Enzyme replacement therapy (ERT), the main stay treatment for Gaucher disease (GD), is not efficacious for the neurological manifestations. Ambroxol, in combination...

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Autores principales: Charkhand, Behshad, Scantlebury, Morris H., Narita, Aya, Zimran, Ari, Al-Hertani, Walla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6713848/
https://www.ncbi.nlm.nih.gov/pubmed/31467847
http://dx.doi.org/10.1016/j.ymgmr.2019.100476
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author Charkhand, Behshad
Scantlebury, Morris H.
Narita, Aya
Zimran, Ari
Al-Hertani, Walla
author_facet Charkhand, Behshad
Scantlebury, Morris H.
Narita, Aya
Zimran, Ari
Al-Hertani, Walla
author_sort Charkhand, Behshad
collection PubMed
description Type 3 Gaucher disease (GD3) is characterized by progressive neurological features in addition to the typical systemic manifestations. Enzyme replacement therapy (ERT), the main stay treatment for Gaucher disease (GD), is not efficacious for the neurological manifestations. Ambroxol, in combination with ERT has been suggested to have potential as a promising therapy for patients with GD3. The purpose of this study is to assess the effect of Ambroxol on glucosylsphingosine (Lyso-Gb1) levels, and on the neurological morbidity, in two Canadian patients with GD3.
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spelling pubmed-67138482019-08-29 Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease Charkhand, Behshad Scantlebury, Morris H. Narita, Aya Zimran, Ari Al-Hertani, Walla Mol Genet Metab Rep Short Communication Type 3 Gaucher disease (GD3) is characterized by progressive neurological features in addition to the typical systemic manifestations. Enzyme replacement therapy (ERT), the main stay treatment for Gaucher disease (GD), is not efficacious for the neurological manifestations. Ambroxol, in combination with ERT has been suggested to have potential as a promising therapy for patients with GD3. The purpose of this study is to assess the effect of Ambroxol on glucosylsphingosine (Lyso-Gb1) levels, and on the neurological morbidity, in two Canadian patients with GD3. Elsevier 2019-05-17 /pmc/articles/PMC6713848/ /pubmed/31467847 http://dx.doi.org/10.1016/j.ymgmr.2019.100476 Text en © 2019 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Charkhand, Behshad
Scantlebury, Morris H.
Narita, Aya
Zimran, Ari
Al-Hertani, Walla
Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease
title Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease
title_full Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease
title_fullStr Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease
title_full_unstemmed Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease
title_short Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease
title_sort effect of ambroxol chaperone therapy on glucosylsphingosine (lyso-gb1) levels in two canadian patients with type 3 gaucher disease
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6713848/
https://www.ncbi.nlm.nih.gov/pubmed/31467847
http://dx.doi.org/10.1016/j.ymgmr.2019.100476
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