Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

Emerging novel concept of chaperone therapies for protein misfolding diseases

(2014) Yoshiyuki SUZUKI   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

Abnormal pupillary light reflex with chromatic pupillometry in Gaucher disease

(2014) Aya Narita et al.   Annals of Clinical and Translational Neurology

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease

(2012) Ari Zimran et al.   BLOOD CELLS MOLECULES AND DISEASES

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

(2012) Zhuo Luan et al.   BRAIN & DEVELOPMENT

Revised recommendations for the management of Gaucher disease in children

(2012) Paige Kaplan et al.   EUROPEAN JOURNAL OF PEDIATRICS

Discovery, Structure–Activity Relationship, and Biological Evaluation of Noninhibitory Small Molecule Chaperones of Glucocerebrosidase

(2012) Samarjit Patnaik et al.   JOURNAL OF MEDICINAL CHEMISTRY

Ex Vivoandin VivoEffects of Isofagomine on Acid β-Glucosidase Variants and Substrate Levels in Gaucher Disease

(2011) Ying Sun et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical and genetic characteristics of Korean patients with Gaucher disease

(2010) Seon-Yong Jeong et al.   BLOOD CELLS MOLECULES AND DISEASES

A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients

(2010) Ichraf Kraoua et al.   BRAIN & DEVELOPMENT

The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG)

(2010) P. Chérin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Chaperone Activity of Bicyclic Nojirimycin Analogues for Gaucher Mutations in Comparison withN-(n-nonyl)Deoxynojirimycin

(2009) Zhuo Luan et al.   CHEMBIOCHEM

Reassessment of phenytoin for treatment of late stage progressive myoclonus epilepsy complicated with status epilepticus

(2009) Ayako Miyahara et al.   EPILEPSY RESEARCH

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

(2009) Gustavo H. B. Maegawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Randomized, controlled trial of miglustat in Gaucher's disease type 3

(2008) Raphael Schiffmann et al.   ANNALS OF NEUROLOGY

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III

(2008) J. Cox-Brinkman et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Phenotype, diagnosis, and treatment of Gaucher's disease

(2008) Gregory A Grabowski   LANCET