4.7 Article

Use of Ambroxol as Therapy for Gaucher Disease

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3

Ni-Chung Lee et al.

Summary: Adding eliglustat to enzyme replacement therapy (ERT) improved the symptoms and reduced the size of lymph nodes in GD3 patients resistant to ERT, without severe adverse events.

MOLECULAR GENETICS AND METABOLISM REPORTS (2022)

Article Clinical Neurology

Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2

Charlotte Aries et al.

Summary: This study describes the clinical and biochemical outcome of a Gaucher Disease 2 (GD 2) patient treated with high dose ambroxol. The patient showed age-appropriate neurocognitive and motor development, but no clear benefit on peripheral organs. Ambroxol treatment also increased beta-glucocerebrosidase activity in patient fibroblasts. This combination therapy of high dose ambroxol with enzyme replacement proved to be successful in managing both visceral and neurological manifestations of the disease.

FRONTIERS IN NEUROLOGY (2022)

Article Clinical Neurology

Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings

Danijela Petkovic Ramadza et al.

Summary: Gaucher disease type 3 is a severely debilitating disorder with multisystemic manifestations and neurodegeneration. Ambroxol, combined with enzyme replacement therapy, can improve neurological manifestations and may delay or prevent neurological involvement in some patients.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2021)

Article Genetics & Heredity

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy

Yoon-Myung Kim et al.

JOURNAL OF MEDICAL GENETICS (2020)

Article Genetics & Heredity

Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease

Wenjun Jiang et al.

JOURNAL OF HUMAN GENETICS (2020)

Review Cell Biology

Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease

Tae-Un Han et al.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2020)

Review Biochemistry & Molecular Biology

Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review

Shoshana Revel-Vilk et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

Article Genetics & Heredity

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

Behshad Charkhand et al.

MOLECULAR GENETICS AND METABOLISM REPORTS (2019)

Article Hematology

Clinical and molecular characteristics of patients with Gaucher disease in Southern China

Yuyu Feng et al.

BLOOD CELLS MOLECULES AND DISEASES (2018)

Article Clinical Neurology

Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease

Lulu Kang et al.

BRAIN & DEVELOPMENT (2018)

Article Clinical Neurology

Untitled

ANNALS OF NEUROLOGY (2018)

Article Genetics & Heredity

Successful newborn screening for Gaucher disease using fluorometric assay in China

Lulu Kang et al.

JOURNAL OF HUMAN GENETICS (2017)

Article Endocrinology & Metabolism

Gaucher disease: Progress and ongoing challenges

Pramod K. Mistry et al.

MOLECULAR GENETICS AND METABOLISM (2017)

Article Neurosciences

Untitled

SYNAPSE (2017)

Article Clinical Neurology

Untitled

ANNALS OF NEUROLOGY (2016)

Article Clinical Neurology

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

Aya Narita et al.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2016)

Article Hematology

Untitled

BRITISH JOURNAL OF HAEMATOLOGY (2016)

Editorial Material Hematology

Commentary on Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease by Zimran et al.

Ozlem Goker-Alpan

BLOOD CELLS MOLECULES AND DISEASES (2013)

Article Clinical Neurology

The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice

Zhuo Luan et al.

BRAIN & DEVELOPMENT (2013)

Review Pediatrics

Revised recommendations for the management of Gaucher disease in children

Paige Kaplan et al.

EUROPEAN JOURNAL OF PEDIATRICS (2013)

Article Biochemistry & Molecular Biology

Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

Gustavo H. B. Maegawa et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2009)

Article Medicine, General & Internal

Epidemiology and natural history of Gaucher's disease

Atul Mehta

EUROPEAN JOURNAL OF INTERNAL MEDICINE (2006)