Research ExplorerScientific StaffRene Santer

Prof. Dr. ID: 71389

Rene Santer

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Affiliations

Publications

Neurological outcome in long-chain hydroxy fatty acid oxidation disorders

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Correction: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors

Research output: SCORING: Contribution to journal › Short publication › Research › peer-review

Neugeborenenscreening auf angeborene Störungen des Stoffwechsels, des Hormon-, des Blut-, des Immunsystems und des neuromuskulären Systems

Research output: SCORING: Contribution to journal › Training articles › Education › peer-review

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Effects of Infantile Hypophosphatasia on Human Dental Tissue

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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