Ralph Fingerhut
Klinikum Weiden(DE)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Neonatal Health and Biochemistry, Mitochondrial Function and Pathology, Amino Acid Enzymes and Metabolism, Cystic Fibrosis Research Advances
Most-Cited Works
- → Treatment of a metabolic liver disease by in vivo genome base editing in adult mice(2018)433 cited
- → Multiple Phenotypes in Phosphoglucomutase 1 Deficiency(2014)284 cited
- → Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010(2021)225 cited
- → Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference(2018)149 cited
- → Screening for Congenital Adrenal Hyperplasia: Adjustment of 17-Hydroxyprogesterone Cut-Off Values to Both Age and Birth Weight Markedly Improves the Predictive Value(2003)125 cited
- → Purification and Characterization of an alpha-Methylacyl-CoA Racemase from Human Liver(1995)123 cited
- → Hepatic Carnitine Palmitoyltransferase I Deficiency: Acylcarnitine Profiles in Blood Spots Are Highly Specific(2001)117 cited
- → Purification and properties of an α‐methylacyl‐CoA racemase from rat liver(1994)115 cited
- → Population spectrum ofACADMgenotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency(2005)111 cited
- → Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity ofMCCA andMCCB mutations and impact on risk assessment(2006)89 cited