Clinical implementation of RNA sequencing for Mendelian disease diagnostics
2022 · Genome Medicine · 184 citations
https://doi.org/10.1186/s13073-022-01019-9
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Skadi Beblo
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Skadi Beblo is an academic researcher from University Hospital Leipzig. The author has contributed to research in topics: Metabolism and Genetic Disorders & Mitochondrial Function and Pathology & Diet and metabolism studies. The author has an h-index of 31, co-authored 83 publications.
ORCID: 0000-0002-7376-6512Papers by this author
worksComparison of bloodstream fatty acid composition from African-American women at gestation, delivery, and postpartum
2004 · Journal of Lipid Research · 116 citations
https://doi.org/10.1194/jlr.m400394-jlr200
Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013
2016 · Orphanet Journal of Rare Diseases · 50 citations
https://doi.org/10.1186/s13023-016-0493-0
Ten years of specialized adult care for phenylketonuria – a single-centre experience
2016 · Orphanet Journal of Rare Diseases · 46 citations
https://doi.org/10.1186/s13023-016-0410-6
Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy
2021 · Orphanet Journal of Rare Diseases · 30 citations
https://doi.org/10.1186/s13023-021-02108-5
European guidelines on diagnosis and treatment of phenylketonuria: First revision
2025 · Molecular Genetics and Metabolism · 28 citations
https://doi.org/10.1016/j.ymgme.2025.109125
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