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Your search keyword '"Natural History"' showing total 360 results

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360 results on '"Natural History"'

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1. A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).

2. Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES).

3. A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE)

4. Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases

5. Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES)

6. Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021

7. Natural history in Malan syndrome: survey of 28 adults and literature review

8. Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency.

9. Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.

10. Natural history in Malan syndrome: survey of 28 adults and literature review.

11. Swallowing characterization of adult-onset Niemann-Pick, type C1 patients.

12. Project SATURN– a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies.

13. The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland

14. Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder

17. Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations.

18. Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey.

19. The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data

20. Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study

21. The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.

22. Generalized pairwise comparisons of prioritized outcomes are a powerful and patient-centric analysis of multi-domain scores.

23. The metabolomic plasma profile of patients with Duchenne muscular dystrophy: providing new evidence for its pathogenesis.

24. Prevalence of morbidities across the lifespan for adults with spinal muscular atrophy: a retrospective cohort study.

25. Childhood cerebral adrenoleukodystrophy (CCALD) in France: epidemiology, natural history, and burden of disease - A population-based study.

26. Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study.

27. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

28. Brazilian registry of patients with porphyria: REBRAPPO study

29. Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study

30. Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure

31. Real-world evidence in achondroplasia: considerations for a standardized data set.

32. Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers.

33. Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature

34. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.

35. Brazilian registry of patients with porphyria: REBRAPPO study.

36. Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study.

37. Genotype–phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus–merzbacher disease

38. Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort study

39. Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.

40. Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases.

41. Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions

42. Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome.

43. Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.

44. Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

45. The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness

46. Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation

47. Nationwide comprehensive epidemiological study of rare diseases in Japan using a health insurance claims database.

48. Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.

49. Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach.

50. Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort study.

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