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Orphanet Journal of Rare Diseases
|
November 24, 2020
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study
Eugen Mengel, Bruno Bembi, Mireia Del Toro, et al.
JAMA Neurology
|
December 22, 2018
Clinical, Radiologic, and Prognostic Features of Myelitis Associated With Myelin Oligodendrocyte Glycoprotein Autoantibody
Divyanshu Dubey, Sean J Pittock, Karl N Krecke, et al.
Neurology. Genetics
|
September 8, 2016
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients
John J Millichap, Kristen L Park, Tammy Tsuchida, et al.
Molecular Genetics and Metabolism Reports
|
June 16, 2025
Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale
Eugen Mengel, Marc C Patterson, Rosalia M Da Riol, et al.
Molecular Genetics and Metabolism
|
February 17, 2015
Disease specific therapies in leukodystrophies and leukoencephalopathies
Guy Helman, Keith Van Haren, Joshua L Bonkowsky, et al.
Human Mutation
|
April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano, et al.
Journal of Inherited Metabolic Disease
|
August 21, 2021
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment
Eugen Mengel, Marc C Patterson, Rosalia M Da Riol, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 17, 2006
Pompe disease diagnosis and management guideline
, Priya S Kishnani, Robert D Steiner, et al.
Journal of Inherited Metabolic Disease
|
April 26, 2026
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C
Tarekegn Hiwot, Forbes D Porter, Tatiana Bremova-Ertl, et al.
Cytotherapy
|
April 13, 2024
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
Laura A Adang, Joshua L Bonkowsky, Jaap Jan Boelens, et al.
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of 12
Search research articles
Search
Showing results (101-110 of 115) with videos related to
Sort By:
Page
of 12
Orphanet Journal of Rare Diseases
|
November 24, 2020
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study
Eugen Mengel, Bruno Bembi, Mireia Del Toro, et al.
JAMA Neurology
|
December 22, 2018
Clinical, Radiologic, and Prognostic Features of Myelitis Associated With Myelin Oligodendrocyte Glycoprotein Autoantibody
Divyanshu Dubey, Sean J Pittock, Karl N Krecke, et al.
Neurology. Genetics
|
September 8, 2016
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients
John J Millichap, Kristen L Park, Tammy Tsuchida, et al.
Molecular Genetics and Metabolism Reports
|
June 16, 2025
Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale
Eugen Mengel, Marc C Patterson, Rosalia M Da Riol, et al.
Molecular Genetics and Metabolism
|
February 17, 2015
Disease specific therapies in leukodystrophies and leukoencephalopathies
Guy Helman, Keith Van Haren, Joshua L Bonkowsky, et al.
Human Mutation
|
April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano, et al.
Journal of Inherited Metabolic Disease
|
August 21, 2021
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment
Eugen Mengel, Marc C Patterson, Rosalia M Da Riol, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 17, 2006
Pompe disease diagnosis and management guideline
, Priya S Kishnani, Robert D Steiner, et al.
Journal of Inherited Metabolic Disease
|
April 26, 2026
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C
Tarekegn Hiwot, Forbes D Porter, Tatiana Bremova-Ertl, et al.
Cytotherapy
|
April 13, 2024
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
Laura A Adang, Joshua L Bonkowsky, Jaap Jan Boelens, et al.
Page
of 12