299 results on '"Adang, Laura A."'
Search Results
2. TREX1 is required for microglial cholesterol homeostasis and oligodendrocyte terminal differentiation in human neural assembloids
3. Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
4. Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency
5. Systemic complications of Aicardi Goutières syndrome using real-world data
6. Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy
7. Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
8. Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach
9. Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS)
10. Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management
11. Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome
12. Pulmonological issues
13. Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series
14. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
15. Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.
16. Systemic Complications and Natural History of Aicardi Goutières Syndrome (P6-8.001)
17. Metachromatic leukodystrophy: A story of hope woven from sorrow
18. Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome
19. Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations
20. Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase Deficiency
21. Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
22. Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases
23. Framework for Multistakeholder Patient Registries in the Field of Rare Diseases:Focus on Neurogenetic Diseases
24. Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management
25. Leukodystrophies
26. Nucleotide metabolism, leukodystrophies, and CNS pathology
27. Development of a rigorous approach for retrospective natural history studies in leukodystrophies
28. Validation of GMFC-MLD scale as a measure of gross motor function in metachromatic leukodystrophy
29. Off-label use of agalsidase beta and immune tolerance induction: The challenges of treatment initiation in young Fabry disease patients
30. A phase 2 study assessing TAK-611150 mg intrathecal weekly in patients with late-infantile metachromatic leukodystrophy (SHP611–201; EMBOLDEN) compared to matched historical control data from children with late-infantile MLD (GLIA-MLD)
31. The impact of multiple sulfatase deficiency on children and families: A caregiver's perspective
32. Cost-effectiveness framework by tandem mass spectrometry (TMS) for newborn screening of metachromatic leukodystrophy (MLD) in the United States (US)
33. Systemic Complications of Aicardi Goutières Syndrome Using Real World Data
34. TREX1 is required for microglial cholesterol homeostasis and oligodendrocyte terminal differentiation in human neural assembloids
35. Biochemical signatures of disease severity in multiple sulfatase deficiency.
36. Biochemical signatures of disease severity in multiple sulfatase deficiency
37. Exploration of Gross Motor Function in Aicardi-Goutières Syndrome
38. Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A
39. Compassionate use of lentiviral gene therapy for metachromatic leukodystrophy
40. Machine learning-driven Interferon Signaling Gene Expression Score predicts Aicardi Goutières Syndrome (P10-5.019)
41. Teaching NeuroImages: Atrophy in epileptic encephalopathy
42. Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis
43. Teaching NeuroImages: Cranial neuropathies following clival infarction
44. Biomarkers of disease severity in multiple sulfatase deficiency
45. Development of disease-specific scale for multiple sulfatase deficiency
46. Prospective telemedicine natural history study of multiple sulfatase deficiency
47. Developmental delay can precede neurologic regression in metachromatic leukodystrophy
48. Compassionate use of OTL-200 for patients with metachromatic leukodystrophy
49. SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome
50. Pediatric Multiple Sclerosis
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.