Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights
Patryk Lipiński(Children's Memorial Health Institute), Irena Jankowska(Children's Memorial Health Institute), Elżbieta Ciara(Children's Memorial Health Institute), Anna Bogdańska(Children's Memorial Health Institute), Elżbieta Jurkiewicz(Children's Memorial Health Institute), Maciej Pronicki(Children's Memorial Health Institute), Dorota Jurkiewicz(Children's Memorial Health Institute), Rafał Płoski(Medical University of Warsaw)
Cited by 6
Related Papers
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
|The American Journal of Human Genetics|2005|562
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
|Journal of the American Society of Nephrology|2015|284
New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre
|Journal of Translational Medicine|2016|233
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
|Genome Medicine|2022|215
Differences in presentation and progression between severe FIC1 and BSEP deficiencies
|Journal of Hepatology|2010|208