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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation
[Taking Stock: Figures, Data, Facts]
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).
Chitotriosidase as a marker of disease activity in sarcoidosis
SARS-CoV-2 infection in a 7-year-old girl with pancytopenia during acute lymphocytic leukemia maintenance therapy
Chitotriosidase as a marker of disease activity in sarcoidosis
Abdominal Pain and Constipation
A Novel Homozygous SLC26A3 Nonsense Mutation in a Tyrolean Girl With Congenital Chloride Diarrhea
