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Journal of Inherited Metabolic Disease
|
August 2, 2025
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy
Shanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli, et al.
Journal of Neurology
|
June 28, 2020
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
Daniele Mandia, Marion Plaze, Isabelle Le Ber, et al.
Orphanet Journal of Rare Diseases
|
April 8, 2018
Consensus clinical management guidelines for Niemann-Pick disease type C
Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, et al.
Journal of Inherited Metabolic Disease
|
February 17, 2026
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases
Aline Cano, Xiaoyi Chen, Azza Khemiri, et al.
Orphanet Journal of Rare Diseases
|
October 28, 2025
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease
Fabrice Camou, Christine Serratrice, Magali Pettazzoni, et al.
Neurology
|
July 25, 2019
Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease
Louis Cousyn, Bruno Law-Ye, Nadya Pyatigorskaya, et al.
Neurobiology of Disease
|
April 1, 2023
Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression
Walid Khrouf, Dario Saracino, Benoit Rucheton, et al.
Journal of Inherited Metabolic Disease
|
May 10, 2025
Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades
Yann Nguyen, Maxime Beydon, Karima Yousfi, et al.
Journal of Internal Medicine
|
February 28, 2026
Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation
Maxime Beydon, Jérôme Stirnemann, Karima Yousfi, et al.
Bone Marrow Transplantation
|
December 9, 2022
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
Antoine Gardin, Martin Castelle, Samia Pichard, et al.
Page
of 6
Search research articles
Search
Showing results (41-50 of 52) with videos related to
Sort By:
Page
of 6
Journal of Inherited Metabolic Disease
|
August 2, 2025
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy
Shanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli, et al.
Journal of Neurology
|
June 28, 2020
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
Daniele Mandia, Marion Plaze, Isabelle Le Ber, et al.
Orphanet Journal of Rare Diseases
|
April 8, 2018
Consensus clinical management guidelines for Niemann-Pick disease type C
Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, et al.
Journal of Inherited Metabolic Disease
|
February 17, 2026
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases
Aline Cano, Xiaoyi Chen, Azza Khemiri, et al.
Orphanet Journal of Rare Diseases
|
October 28, 2025
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease
Fabrice Camou, Christine Serratrice, Magali Pettazzoni, et al.
Neurology
|
July 25, 2019
Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease
Louis Cousyn, Bruno Law-Ye, Nadya Pyatigorskaya, et al.
Neurobiology of Disease
|
April 1, 2023
Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression
Walid Khrouf, Dario Saracino, Benoit Rucheton, et al.
Journal of Inherited Metabolic Disease
|
May 10, 2025
Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades
Yann Nguyen, Maxime Beydon, Karima Yousfi, et al.
Journal of Internal Medicine
|
February 28, 2026
Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation
Maxime Beydon, Jérôme Stirnemann, Karima Yousfi, et al.
Bone Marrow Transplantation
|
December 9, 2022
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
Antoine Gardin, Martin Castelle, Samia Pichard, et al.
Page
of 6