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  1. 41
    Alkaptonuria: Current Perspectives
    by Zatkova A, Ranganath L, Kadasi L
    Published 2020-01-01
    Subjects: “...rare disease...”
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    Article
  2. 42
    A philosophical perspective on pulmonary hypertension: What is 'rare'?
    by Gerald J. Maarman
    Published 2020-05-01
    Subjects: “...rare disease...”
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    Article
  3. 43
    Determining How Far an Adult Rare Disease Patient Needs to Travel for a Definitive Diagnosis: A Cross-Sectional Examination of the 2018 National Rare Disease Survey in China
    by Xiang Yan, Shenjing He, Dong Dong
    Published 2020-03-01
    Subjects: “...rare disease...”
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    Article
  4. 44
    Rare disease registries: potential applications towards impact on development of new drug treatments
    Subjects: “...Rare disease...”
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    Article
  5. 45
    The cumulative incidence and trends of rare diseases in South Korea: a nationwide study of the administrative data from the National Health Insurance Service database from 2011–2015
    Subjects: “...Rare disease...”
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  6. 46
    Determinants and Equity Evaluation for Health Expenditure Among Patients with Rare Diseases in China
    by Xiao-Xiong Xin, Liang Zhao, Xiao-Dong Guan, Lu-Wen Shi
    Published 2016-01-01
    Subjects: “...Determinant; Equity Evaluation; Health Expenditure; Rare Disease...”
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    Article
  7. 47
    Metabolic Parameters in Patients with Prader-Willi Syndrome and DiGeorge Syndrome with Respect to Psychopathological Manifestation
    by Krefft M, Frydecka D, Śmigiel R, Misiak B
    Published 2020-02-01
    Subjects: “...rare disease...”
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    Article
  8. 48
    In silico study of medical decision-making for rare diseases: heterogeneity of decision-makers in a population improves overall benefit
    by Juan Wang, Ryo Yamada
    Published 2018-09-01
    Subjects: “...Rare disease...”
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    Article
  9. 49
    Teaching's orderline of a pupil with rare disease by a support teacher
    by Agnieszka Kamyk-Wawryszuk
    Published 2017-05-01
    Subjects: “...pupil with rare disease, teaching assistance, support teacher...”
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    Article
  10. 50
    Clinical and molecular review of atypical congenital adrenal hyperplasia
    by Taninee Sahakitrungruang
    Published 2015-03-01
    Subjects: “...Rare disease...”
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    Article
  11. 51
    “Living an Obstacle Course”: A Qualitative Study Examining the Experiences of Caregivers of Children with Rett Syndrome
    Subjects: “...rare disease...”
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    Article
  12. 52
    To Extinguish the Fire from Outside the Cell or to Shutdown the Gas Valve Inside? Novel Trends in Anti-Inflammatory Therapies
    Subjects: “...rare disease...”
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    Article
  13. 53
    First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder
    Subjects: “...rare disease...”
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    Article
  14. 54
    Ataxia and me–living within a neurological hierarchy
    by Clark, T.
    Published 2022
    Subjects: “...rare disease...”
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    Article
  15. 55
    FAT-FREE, HIGH IN CALORIES. MANAGEMENT OF DIETS IN THE CASE OF A RARE METABOLIC DISORDER
    by Anna Chowaniec-Rylke
    Published 2018-06-01
    Subjects: “...rare disease...”
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    Article
  16. 56
    Subclinical hypothyroidism and Pelizaeus-Merzbacher Disease in same-sex twins: Case report
    Subjects: “...Rare disease...”
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    Article
  17. 57
    From Clinical Diagnosis to the Discovery of Multigene Rare Sequence Variants in Pseudoxanthoma elasticum: A Case Report
    Subjects: “...rare disease...”
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    Article
  18. 58
    Splicing in the Diagnosis of Rare Disease: Advances and Challenges
    by Jenny Lord, Diana Baralle, Diana Baralle
    Published 2021-07-01
    Subjects: “...rare disease...”
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    Article
  19. 59
    Survival of patients with rare diseases: a population-based study in Tuscany (Italy)
    Subjects: “...Rare disease...”
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    Article
  20. 60
    Epidemiology of mucopolysaccharidoses (MPS) in United States: challenges and opportunities
    Subjects: “...Rare disease registry...”
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    Article
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