Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Splenomegali og dårlig trivselsom følge af morbus Gaucher

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Integration af specialiseret palliation og onkologi

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Formodet SARS-CoV-2-dødsfald hos en tidligere rask 50-årig mand

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Akut luftvejsobstruktion grundet uerkendt akalasi efter ukompliceret vaginal fødsel

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Dansk Kvalitetsdatabase for Nyfødte (DKN) -resumé af årsrapport 2018. Indikator 9: antibiotikabehandling

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Lokalanæstesitorakoskopi ved udredning af recidiverende pleuraeffusion

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Increased risk of sudden death in untreated Primary Carnitine Deficiency

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Danish expanded newborn screening is a successful preventive public health programme

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

Gaucher disease (GD) is the most common lysosomal storage disease with a prevalence of 1:75,000. The disease is caused by a defiency of the lysosomal enzyme glucocerebrosidase which leads to an accumulation of the substrate glycosylceramide within macrophages. GD presents with a wide spectrum of symptoms but involvement of the bones, bone marrow and spleen or liver is seen in the majority of patients. We present the case of a ten-year-old girl with massive splenomegaly, cytopenia, poor growth, learning difficulties and extreme fatigue for several years.

Translated title of the contributionSplenomegaly and failure to thrive as a result of Gaucher disease
Original languageDanish
JournalUgeskrift for Laeger
Volume177
Issue number37
Pages (from-to)V04150358
ISSN0041-5782
Publication statusPublished - 7 Sep 2015

ID: 45888864