DB
Diana Ballhausen
Also known as: Diana Sobetzko
University Hospital Lausanne, University of Goettingen
0000-0003-2940-3439
Employment
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University Hospital Lausanne Head of pediatric metabolic unit2005 - Present
Education
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University of Goettingen physician1991 - 1997
Projects & Funding
Projects & funding information is unavailable.
Publications (88)
- Genetic Cascade Screening for Familial Hypercholesterolemia Save
- Correspondence on “Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)” by Smith et al Save
- Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort Save
- Erratum: Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum Save
- Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines Save
- Symmetrical Thalamic Lesions in Preterm Triplets: What Can We Learn From the Different Phenotypes? Save
- Structural and Functional Characterization of N-Glycanase-1 Pathogenic Variants Save
- Cystathionine β‐Synthase Deficiency in the E‐<scp>HOD</scp> Registry—Part <scp>II</scp>: Dietary and Pharmacological Treatment Save
- Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German‐speaking countries Save
- De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke Save