The Genetic Landscape and Epidemiology of Phenylketonuria
2020 · The American Journal of Human Genetics · 351 citations
https://doi.org/10.1016/j.ajhg.2020.06.006
S
Sven F. Garbade
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Sven F. Garbade is an academic researcher from Heidelberg University. The author has contributed to research in topics: Metabolism and Genetic Disorders & Mitochondrial Function and Pathology & Folate and B Vitamins Research. The author has an h-index of 34, co-authored 145 publications.
ORCID: 0000-0002-7420-4757Papers by this author
worksCross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies
2020 · Genetics in Medicine · 23 citations
https://doi.org/10.1038/s41436-020-01001-z
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study
2024 · The Lancet Regional Health - Europe · 21 citations
https://doi.org/10.1016/j.lanepe.2024.101092
Impact of glycogen storage disease type I on adult daily life: a survey
2021 · Orphanet Journal of Rare Diseases · 19 citations
https://doi.org/10.1186/s13023-021-02006-w
Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening
2022 · European Journal of Pediatrics · 15 citations
https://doi.org/10.1007/s00431-022-04421-y
Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening
2024 · Journal of Inherited Metabolic Disease · 10 citations
https://doi.org/10.1002/jimd.12784
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