14 results on '"Caillaud, Catherine"'
Search Results
2. Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Sphingolipid Metabolism disorders Neuronal Ceroid Lipofuscinoses Neuronal Ceroid-Lipofuscinoses disorders
3. Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings
4. Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid Lipofuscinoses
5. Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy—Oldest case of a presymptomatic enzyme therapy.
6. Natural history of GM1 gangliosidosis—Retrospective cohort study of 61 French patients from 1998 to 2019
7. Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study
8. Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis
9. Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
10. Neuronal ceroïd‐lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series
11. Plasma GM2 Ganglioside Potential Biomarker for Diagnosis, Prognosis and Disease Monitoring of GM2-Gangliosidosis
12. Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
13. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
14. Plasma G M2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.