869 results on '"van Hasselt, Peter"'
Search Results
2. Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
3. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
4. UPLC-Orbitrap-HRMS application for analysis of plasma sterols
5. Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management
6. Evolutionary conservation of the fidelity of transcription
7. Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports
8. Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons
9. Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc
10. Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration
11. Aberrant cyclin C nuclear release induces mitochondrial fragmentation and dysfunction in MED13L syndrome fibroblasts
12. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
13. Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series
14. Novel Orally Formulated Mixed Micelles Optimize Vitamin K Absorption Under Bile-Deficient Conditions
15. Long-term effect of hematopoietic cell transplantation on systemic inflammation in patients with mucopolysaccharidoses
16. Gene therapy in advanced metachromatic leukodystrophy: tempering expectations
17. Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency
18. Hurdles in treating Hurler disease: potential routes to achieve a “real” cure
19. Longitudinal Analysis of Ocular Disease in Children with Mucopolysaccharidosis I after Hematopoietic Cell Transplantation
20. Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio
21. Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity
22. Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination
23. Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy
24. High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman’s Disease
25. Design of a Multi-Center Randomized Active Controlled Phase 3 Clinical Trial (HURCULES) Evaluating the Safety and Efficacy of OTL-203 in Patients with MPS-IH Versus Standard of Care with Allogeneic Hematopoietic Stem Cell Transplantation
26. Outcomes after Hematopoietic Cell Transplantation for Hurler Syndrome after Implementation Newborn Screening in US and Europe
27. Design of a multi-center randomized active controlled phase 3 clinical trial (HURCULES) evaluating the safety and efficacy of OTL-203 in patients with MPS IH versus standard of care with allogeneic hematopoietic stem cell transplantation
28. UPLC-Orbitrap-HRMS application for analysis of plasma sterols
29. A context-based approach to unravel Variants of (Uncertain) Significance
30. Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy
31. Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
32. High-dose ERT, rituximab, and early HSCT in an infant with Wolman’s disease
33. Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination
34. Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management
35. Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons
36. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
37. Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation
38. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
39. Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid
40. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
41. Aminoacyl-tRNA synthetase deficiencies in search of common themes
42. Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12
43. Mixed micellar system stabilized with saponins for oral delivery of vitamin K
44. Salivary α-Iduronidase Activity as a Potential New Biomarker for the Diagnosis and Monitoring the Effect of Therapy in Mucopolysaccharidosis Type I
45. Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure
46. Increasing the dose of oral vitamin K prophylaxis and its effect on bleeding risk
47. Early and late outcomes after cord blood transplantation for pediatric patients with inherited leukodystrophies
48. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
49. Macrocephaly and developmental delay caused by missense variants in RAB5C
50. Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.