Carla Hollak

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Publications (200)

• Cost-Based Price Calculation of Mexiletine for Nondystrophic Myotonia
  Value in Health 2021 DOI: 10.1016/j.jval.2021.02.004
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• Expanding the clinical spectrum of cerebrotendinous xanthomatosis: Implications for newborn screening, follow-up and treatment
  Journal of Internal Medicine 2021 DOI: 10.1111/joim.13276
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• Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products
  Value in Health 2021 DOI: 10.1016/j.jval.2020.10.006
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• Influence of sex and phenotype on cardiac outcomes in patients with Fabry disease
  Heart 2021 DOI: 10.1136/heartjnl-2020-317922
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• Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation
  JIMD Reports 2021 DOI: 10.1002/jmd2.12186
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• Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers
  Molecular Genetics and Metabolism 2020 DOI: 10.1016/j.ymgme.2020.02.002
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• Bone mineral density is within normal range in most adult phenylketonuria patients
  Journal of Inherited Metabolic Disease 2020 DOI: 10.1002/jimd.12177
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• Classical galactosemia: Neuropsychological and psychosocial functioning beyond intellectual abilities
  Orphanet Journal of Rare Diseases 2020 DOI: 10.1186/s13023-019-1277-0
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• Cognitive functioning and depressive symptoms in Fabry disease: A follow-up study
  Journal of Inherited Metabolic Disease 2020 DOI: 10.1002/jimd.12271
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• Continuedmisuse of orphan drug legislation: A life-threatening risk for mexiletine
  European Heart Journal 2020 DOI: 10.1093/eurheartj/ehaa041
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