163 results on '"Schiffmann, Raphael"'
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2. Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource
3. Dysregulated DNA methylation in the pathogenesis of Fabry disease
4. Expanded phenotype of AARS1-related white matter disease
5. Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3
6. Long-term follow-up of renal function in patients treated with migalastat for Fabry disease
7. Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher disease
8. Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease
9. EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review
10. Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model
11. Diagnosis, prognosis, and treatment of leukodystrophies
12. Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
13. Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200
14. Chapter 35 - Gaucher disease—neuronopathic forms
15. Low frequency of Fabry disease in patients with common heart disease
16. Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy
17. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation
18. The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat
19. Urinary 11-Dehydro-Thromboxane B2 and Mortality in Patients With Stable Coronary Artery Disease
20. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference
21. Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues
22. Gaucher disease: Progress and ongoing challenges
23. Is it Fabry disease?
24. Fabry Disease: A Disorder of Childhood Onset
25. Disease specific therapies in leukodystrophies and leukoencephalopathies
26. Case definition and classification of leukodystrophies and leukoencephalopathies
27. Cardiac effects of 4D-310 in adults with Fabry disease in a phase 1/2 clinical trial: Functional, quality of life, and imaging endpoints in patients with 12 months of follow up
28. O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV*
29. Quantitative neuroimaging in mucolipidosis type IV
30. List of Contributors
31. Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa
32. HIV Tat Domain Improves Cross-correction of Human Galactocerebrosidase in a Gene- and Flanking Sequence-dependent Manner
33. Characterization of transferrin glycopeptide structures in human cerebrospinal fluid
34. Early Alterations of Brain Cellular Energy Homeostasis in Huntington Disease Models
35. Skin ultrastructural findings in type 2 Gaucher disease: Diagnostic implications
36. Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry mice
37. Corrigendum to “Long-term follow-up of renal function in patients treated with migalastat for Fabry disease” [Bichet et al., MGM Reports; 28 (2021) 100786]
38. Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells
39. Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases
40. Four-Year Prospective Clinical Trial of Agalsidase Alfa in Children with Fabry Disease
41. XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms
42. Fabry disease
43. Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells
44. Cognitive Outcome in Treated Patients with Chronic Neuronopathic Gaucher Disease
45. Chapter 30 - Gaucher disease—neuronopathic forms
46. Chapter 19 - Vanishing white matter disease
47. The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry disease
48. Establishment and characterization of Fabry disease endothelial cells with an extended lifespan
49. Cellular and tissue distribution of intravenously administered agalsidase alfa
50. The cerebral vasculopathy of Fabry disease
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