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Significats de ceramide trihexosidase deficiency en anglès

rus
болезнь фабри
portuguès
doença de fabry
espanyol
enfermedad de fabry
català
malaltia d'anderson-fabry
Wikidata

Rare human genetic lysosomal storage disorder.

      Termes relacionats
      malaltia d'anderson-fabry
      Sinònims
      Examples for "fd"
      Examples for "fd"
      1
      The fd coat protein was purified by gel chromatography of the SDA solubilized virus.
      Pubmed
      2
      These findings make fd bacteriophage a valuable tool for immunization without administering exogenous adjuvants.
      Pubmed
      3
      In order to investigate the mechanisms of this activity, RNA-Sequencing of fd-pulsed dendritic cells was performed.
      Pubmed
      4
      The minor coat proteins of the filamentous bacteriophage fl and fd have been isolated and characterized.
      Pubmed
      5
      These findings may guide program planning for future FD to support IPE.
      Pubmed
      1
      Recent advances in enzyme replacement therapy can reverse the storage of glycosphingolipids in Fabry's disease.
      Pubmed
      2
      The diagnosis of Fabry's disease was made by the absence of plasma alpha-galactosidase A activity.
      Pubmed
      3
      Thus, in patients with cardiac hypertrophy, it is important to differentiate Fabry's disease from other causes of hypertrophy.
      Pubmed
      4
      This was a very rare case of subclinical Fabry's disease coexistent with cholesterol crystal embolization, mimicking pulmonary-renal syndrome.
      Pubmed
      1
      Tinnitus may be an earlier symptom than previously thought in Fabry disease.
      Pubmed
      2
      This paper examines hearing loss in a group of young patients with Fabry disease.
      Pubmed
      3
      Objective: To assess the prevalence of Fabry disease in young patients with cryptogenic stroke.
      Pubmed
      4
      Aim: The prevalence of hearing loss in patients with Fabry disease is still uncertain.
      Pubmed
      5
      Despite enzyme replacement therapy, Fabry disease progresses with serious myocardial, cerebral and renal manifestations.
      Pubmed
      Translations for ceramide trihexosidase deficiency