Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

Rudolph E. Tanzi, Konstantin Petrukhin, Jean‐Luc Pellequer et al. · Nature Genetics · 1993 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +10

Isolation and Characterization of a Human Liver cDNA as a Candidate Gene for Wilson Disease

Yuki Yamaguchi, Mark E. Heiny, J D Gitlin · Biochemical and Biophysical Research Communications · 1993 · 516 citations

Life Sciences, Genetics, Molecular Genetics +8

Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications

Andreas Schulze, Martin Lindner, Dirk Kohlmüller et al. · PEDIATRICS · 2003 · 515 citations

Medicine, Pediatrics, Mass Spectrometric Analysis +16

Wilson's disease in children: 37-Year experience and revised King's score for liver transplantation

Anil Dhawan, Rachel M. Taylor, P. Cheeseman et al. · Liver Transplantation · 2005 · 439 citations · Full text

Medicine, Child Health, Pediatrics +17

Identification and Analysis of Mutations in the Wilson Disease Gene (ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses

Anjali B. Shah, Hong Tao Zhang, Barbara M. Ross et al. · The American Journal of Human Genetics · 1997 · 353 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17