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  1. Article

    Open Access

    The natural history of classic galactosemia: lessons from the GalNet registry

    Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to b...

    M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch… in Orphanet Journal of Rare Diseases (2019)

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  2. No Access

    Chapter

    An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study

    Congenital disorders of glycosylation (CDG) are ultra-rare diseases showing a great phenotypic diversity ranging from mono- to multi-organ/multisystem involvement. Liver involvement, mostly nonprogressive, is ...

    D. Marques-da-Silva, R. Francisco, V. dos Reis Ferreira… in JIMD Reports, Volume 44 (2019)

  3. No Access

    Article

    Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature

    Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects in glycosylation. Nearly 100 CDG types are known so far. Patients present a great phenotypic diver...

    D. Marques-da-Silva, V. dos Reis Ferreira… in Journal of Inherited Metabolic Disease (2017)

  4. Article

    Open Access

    Quantifying benefit-risk preferences for new medicines in rare disease patients and caregivers

    Rare disease patients and caregivers face uncommon, serious, debilitating conditions often characterised by poor prognosis and limited treatment options. This study aimed to explore what they consider of value...

    T. Morel, S. Aymé, D. Cassiman, S. Simoens, M. Morgan… in Orphanet Journal of Rare Diseases (2016)

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  5. No Access

    Chapter

    Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis

    Background: Cystinosis is an autosomal recessive disorder marked by intralysosomal cystine accumulation. Patients present with generalized proximal tubular dysfunction called renal Fanconi syndrome...

    M. Besouw, E. Cornelissen, D. Cassiman, L. Kluijtmans… in JIMD Reports Volume 16 (2014)

  6. No Access

    Chapter

    Pregnancy During Nitisinone Treatment for Tyrosinaemia Type I: First Human Experience

    A 19 year old woman with tyrosinaemia type 1 gave birth to a healthy girl after 41 weeks of gestation. Nitisinone was continued throughout the pregnancy (maternal levels 68–96 μmol/l, target level 30–60 μmol/l...

    A. Vanclooster, R. Devlieger, W. Meersseman… in JIMD Reports - Case and Research Reports, … (2012)

  7. No Access

    Article

    Bilateral blurred vision and low HDL in a 69-year-old man

    S. Van Gool, B. Foets, B. De Geest, D. Cassiman… in Journal of Inherited Metabolic Disease (2008)

  8. No Access

    Article

    Bilateral renal cell carcinoma development in long-term Fabry disease

    D. Cassiman, K. Claes, E. Lerut, R. Oyen… in Journal of Inherited Metabolic Disease (2007)