Research & Publications

Long-term metabolic correction of Wilson's disease in a murine model by gene therapy. Murillo, O. et al. Journal of Hepatology, Volume 64 , Issue 2 , (2016): 419 - 426

EASL Clinical Practice Guidelines : Wilson's disease. Journal of Hepatology, (2012) vol 56/ 671-685

Efficacy and Safety of Oral Chelators in Treatment of Patients With Wilson Disease. Weiss, K.H. et al. Clinical Gastroenterology and Hepatology, 2013, Vol 11 , 8 , 1028 - 1035.e2

Wilson's disease. Aftab A. et al. The Lancet, Vol 369, 397-408, 2007

Liver transplantation and the management of progressive familial intrahepatic cholestasis in children. Mehl, A. et al. World J Transplant. (2016) 6: 278-90. 

Progressive familial intrahepatic cholestasis. Jacquemin, E. Clin Res Hepatol Gastroenterol. (2012)36:S26-35. Progressive familial intrahepatic cholestasis (PFIC) type 1, 2, and 3: a review of the liver pathology findings. Morotti, RA et al.  Semin Liver Dis. 2011) 31:3-10. 

Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations. Diez-Fernandez C. et al. Hum Mutat. (2017) 38:471-484.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Kölker, S. et al. J Inherit Metab Dis (2015) 38:1041-1057.

A longitudinal study of urea cycle disorders. Batshaw, M. Molecular Genetics and Metabolism. (2014) 113: 127?130.

Suggested guidelines for the diagnosis and management of urea cycle disorders. Häberle, J. et al., Orphanet Journal of Rare Diseases (2012) 7:32.