Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 1

@article{Gonzales2014ClinicalUG,
  title={Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 1},
  author={Emmanuel Gonzales and Anne Spraul and Emmanuel Jacquemin},
  journal={European Journal of Human Genetics},
  year={2014},
  volume={22},
  pages={-}
}
1. DISEASE CHARACTERISTICS 1.1 Name of the disease (synonyms) 1. Progressive familial intrahepatic cholestasis type 1 (PFIC1). 2. FIC1 deficiency. Initially reported under the names: 3. Byler disease. 4. Greenland familial cholestasis. Byler syndrome refers to normal gamma-glutamyltransferase (GGT) level chronic intrahepatic cholestasis observed in children usually during the first year of life.1 Later, PFIC1 (Byler disease) and PFIC2 were identified.2–4 The term PFIC1 or FIC1 deficiency should… CONTINUE READING

From This Paper

Topics from this paper.

Citations

Publications citing this paper.

References

Publications referenced by this paper.
Showing 1-10 of 20 references

ATP 8 B 1 and ABCB 11 analysis in 62 children with normal GGT PFIC : phenotypic differences between PFIC 1 and PFIC 2 and natural history

A Davit-Spraul, M Fabre, S Branchereau
Hepatology • 2010

Folding defects in P - type ATP 8 B 1 associated with hereditary cholestasis are ameliorated by 4phenylbutyrate

LM vanderVelden, JM Stapelbroek, E Krieger
Hepatology • 2010

ATP 8 B 1 is essential for maintaining normal hearing

JM Stapelbroek, TA Peters, DH vanBeurden
Proc Natl Acad Sci USA • 2009

Similar Papers

Loading similar papers…