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1. Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders

3. Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation

4. Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations

5. Genomic investigations of unexplained acute hepatitis in children

6. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

7. Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data.

8. Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study

9. Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series

11. Pathological structural conversion of α-synuclein at the mitochondria induces neuronal toxicity

12. A retrograde approach for liver gene transfer

13. Targeting the liver to treat the eye

15. Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

16. Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

18. Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review

19. Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency

20. Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency

21. Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys

23. New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases

24. Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)

25. Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

26. An Archaeology of Disability: A Dialogic Essay*

27. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

28. Clinical Pharmacokinetics and Pharmacodynamics of Cerliponase Alfa, Enzyme Replacement Therapy for CLN2 Disease by Intracerebroventricular Administration

29. Author Correction: Pathological structural conversion of α-synuclein at the mitochondria induces neuronal toxicity

30. Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy

31. Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment [version 2; peer review: 2 approved]

32. Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2

33. Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)

34. Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

35. Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation

37. Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

38. Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses

39. An In Vitro Whole-Organ Liver Engineering for Testing of Genetic Therapies

42. Reproducibility of Molecular Phenotypes after Long-Term Differentiation to Human iPSC-Derived Neurons: A Multi-Site Omics Study

43. Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

44. Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3

45. α-synuclein oligomers interact with ATP synthase and open the permeability transition pore in Parkinson’s disease

46. Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report

47. Consensus clinical management guidelines for Niemann-Pick disease type C

48. Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

49. A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C

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