Cargando…

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

BACKGROUND: Ambroxol (ABX) has been suggested as an augmentative pharmacological agent for neuronopathic Gaucher disease (nGD). This study assessed the long-term safety and efficacy of combined therapy with high-dose ABX and enzyme replacement therapy (ERT) in nGD. METHODS: ABX+ERT therapy was admin...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kim, Yoon-Myung, Yum, Mi-Sun, Heo, Sun Hee, Kim, Taeho, Jin, Hee Kyung, Bae, Jae-sung, Seo, Go Hun, Oh, Arum, Yoon, Hee Mang, Lim, Hyun Taek, Kim, Hyo-Won, Ko, Tae-Sung, Lim, Hyeong‐Seok, Osborn, Mark J, Tolar, Jakub, Cozma, Claudia, Rolfs, Arndt, Zimran, Ari, Lee, Beom Hee, Yoo, Han-Wook
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2020
Materias:	Therapeutics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7029246/ https://www.ncbi.nlm.nih.gov/pubmed/31649052 http://dx.doi.org/10.1136/jmedgenet-2019-106132

Ejemplares similares

Use of Ambroxol as Therapy for Gaucher Disease
por: Zhan, Xia, et al.
Publicado: (2023)

Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease
por: Kim, Eun Na, et al.
Publicado: (2022)

Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease
por: Dinur, Tama, et al.
Publicado: (2023)

Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease
por: Charkhand, Behshad, et al.
Publicado: (2019)

Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease
por: Dinur, Tama, et al.
Publicado: (2019)

Clinical Utility of Bone Marrow Study in Gaucher Disease: A Case Report of Gaucher Disease Type 3 With Intractable Myoclonic Seizures
por: Rim, John Hoon, et al.
Publicado: (2016)

Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease
por: Hurvitz, Noa, et al.
Publicado: (2019)

Impact of Long-Term Enzyme Replacement Therapy on Glucosylsphingosine (Lyso-Gb1) Values in Patients with Type 1 Gaucher Disease: Statistical Models for Comparing Three Enzymatic Formulations
por: Dinur, Tama, et al.
Publicado: (2021)

High-Dose Ambroxol Therapy in Type 1 Gaucher Disease Focusing on Patients with Poor Response to Enzyme Replacement Therapy or Substrate Reduction Therapy
por: Istaiti, Majdolen, et al.
Publicado: (2023)

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study
por: Narita, Aya, et al.
Publicado: (2016)

Resveratrol Inhibits Neuronal Apoptosis and Elevated Ca(2+)/Calmodulin-Dependent Protein Kinase II Activity in Diabetic Mouse Retina
por: Kim, Young-Hee, et al.
Publicado: (2010)

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
por: Dinur, Tama, et al.
Publicado: (2022)

Altered Structural Network in Newly Onset Childhood Absence Epilepsy
por: Kim, Eun-Hee, et al.
Publicado: (2020)

A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease—Identifying Those at the Greatest Risk
por: Becker-Cohen, Michal, et al.
Publicado: (2022)

Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia
por: Ahn, Hyunji, et al.
Publicado: (2020)

Genetic characterization of the Albanian Gaucher disease patient population
por: Cullufi, Paskal, et al.
Publicado: (2020)

Ictal sinus pause and myoclonic seizure in a child
por: Kim, Hye Ryun, et al.
Publicado: (2016)

The definition of neuronopathic Gaucher disease
por: Schiffmann, Raphael, et al.
Publicado: (2020)

Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients
por: Rolfs, Arndt, et al.
Publicado: (2013)

In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy
por: Ciana, Giovanni, et al.
Publicado: (2020)

Efficacy of intravitreal AFlibercept injection For Improvement of retinal Nonperfusion In diabeTic retinopathY (AFFINITY study)
por: Kim, Yoon Jeon, et al.
Publicado: (2020)

Expression of breast cancer stem cell markers as predictors of prognosis and response to trastuzumab in HER2-positive breast cancer
por: Seo, An Na, et al.
Publicado: (2016)

WNT5A induces castration-resistant prostate cancer via CCL2 and tumour-infiltrating macrophages
por: Lee, Geun Taek, et al.
Publicado: (2018)

A Case of Propofol-Induced Delayed-Onset Refractory Myoclonic Seizures
por: Jeon, Hyung Won, et al.
Publicado: (2007)

Large-scale structural alteration of brain in epileptic children with SCN1A mutation
por: Lee, Yun-Jeong, et al.
Publicado: (2017)

Cognitive Impairment in Juvenile Myoclonic Epilepsy
por: Kim, Sun-Young, et al.
Publicado: (2007)

Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2
por: Aries, Charlotte, et al.
Publicado: (2022)

Early diagnosis of Gaucher disease in Korean patients with unexplained splenomegaly: a multicenter observational study
por: Do, Young Rok, et al.
Publicado: (2022)

Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly
por: Jang, Han Na, et al.
Publicado: (2021)

Review of the safety and efficacy of imiglucerase treatment of Gaucher disease
por: Elstein, Deborah, et al.
Publicado: (2009)

The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
por: Kim, Yoo-Mi, et al.
Publicado: (2020)

Glucosylsphingosine Causes Hematological and Visceral Changes in Mice—Evidence for a Pathophysiological Role in Gaucher Disease
por: Lukas, Jan, et al.
Publicado: (2017)

The Bone Biomarker of Quantitative Chemical Shift Imaging in Patients with Type 1 Gaucher Disease Receiving Low-Dose Long-Term Enzyme Replacement Therapy
por: Zimran, Ari, et al.
Publicado: (2023)

Dental profile of patients with Gaucher disease
por: Fischman, Stuart L, et al.
Publicado: (2003)

Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots
por: Cozma, Claudia, et al.
Publicado: (2020)

Early Bactericidal Activity of Delpazolid (LCB01-0371) in Patients with Pulmonary Tuberculosis
por: Kim, Ju Sang, et al.
Publicado: (2022)

The Training and Detraining Effects of 8 Weeks of Water Exercise on Obstacle Avoidance in Gait by the Elderly
por: Lim, Hee Sung, et al.
Publicado: (2014)

The Influence of Short-term Aquatic Training on Obstacle Crossing in Gait by the Elderly
por: Lim, Hee Sung, et al.
Publicado: (2014)

The effects of Pilates exercise on cardiopulmonary function in the chronic stroke patients: a randomized controlled trials
por: Lim, Hee Sung, et al.
Publicado: (2017)

Myoclonic movement after general anesthesia: A case report and review of the literature
por: Lee, Je Jin, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_73cfrmtk4fg4adpllh3adkrja2