365 results on '"Adang, Laura"'
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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. Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan
5. Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency
6. Systemic complications of Aicardi Goutières syndrome using real-world data
7. Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy
8. Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
9. Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach
10. Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS)
11. Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management
12. Pulmonological issues
13. SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome
14. Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN)
15. Hematologic abnormalities in Aicardi Goutières Syndrome
16. Gene therapy in advanced metachromatic leukodystrophy: tempering expectations.
17. Determination of Health Concepts in β-Propeller Protein–Associated Neurodegeneration.
18. Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis
19. Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series
20. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
21. Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome
22. Reliability of the Telemedicine Application of the Gross Motor Function Measure-88 in Patients With Leukodystrophy
23. Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features
24. Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.
25. Nucleotide metabolism, leukodystrophies, and CNS pathology.
26. Glial cells in the driver seat of leukodystrophy pathogenesis
27. Phenotypic and Imaging Spectrum Associated With WDR45
28. Development of a neurologic severity scale for Aicardi Goutières Syndrome
29. Leukodystrophies
30. Systemic Complications and Natural History of Aicardi Goutières Syndrome (P6-8.001)
31. Metachromatic leukodystrophy: A story of hope woven from sorrow
32. Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome
33. Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations
34. Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase Deficiency
35. Development of a rigorous approach for retrospective natural history studies in leukodystrophies
36. Validation of GMFC-MLD scale as a measure of gross motor function in metachromatic leukodystrophy
37. Off-label use of agalsidase beta and immune tolerance induction: The challenges of treatment initiation in young Fabry disease patients
38. 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)
39. The impact of multiple sulfatase deficiency on children and families: A caregiver's perspective
40. Cost-effectiveness framework by tandem mass spectrometry (TMS) for newborn screening of metachromatic leukodystrophy (MLD) in the United States (US)
41. Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
42. Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases
43. Framework for Multistakeholder Patient Registries in the Field of Rare Diseases:Focus on Neurogenetic Diseases
44. Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management
45. Systemic Complications of Aicardi Goutières Syndrome Using Real World Data
46. TREX1 is required for microglial cholesterol homeostasis and oligodendrocyte terminal differentiation in human neural assembloids
47. Biochemical signatures of disease severity in multiple sulfatase deficiency
48. Aicardi goutières syndrome is associated with pulmonary hypertension
49. Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement
50. Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies
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