The natural history of classic galactosemia: lessons from the GalNet registry
2019 · Orphanet Journal of Rare Diseases · 147 citations
https://doi.org/10.1186/s13023-019-1047-z
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Yuval E. Landau
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Yuval E. Landau is an academic researcher from Tel Aviv University. The author has contributed to research in topics: Metabolism and Genetic Disorders & Mitochondrial Function and Pathology & Neonatal Health and Biochemistry. The author has an h-index of 16, co-authored 39 publications.
Papers by this author
worksCan untreated PKU patients escape from intellectual disability? A systematic review
2018 · Orphanet Journal of Rare Diseases · 60 citations
https://doi.org/10.1186/s13023-018-0890-7
DLG4-related synaptopathy: a new rare brain disorder
2021 · Genetics in Medicine · 49 citations
https://doi.org/10.1038/s41436-020-01075-9
Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease
2020 · Molecular Genetics and Metabolism Reports · 23 citations
https://doi.org/10.1016/j.ymgmr.2020.100631
Creatine transporter deficiency: Novel mutations and functional studies
2016 · Molecular Genetics and Metabolism Reports · 20 citations
https://doi.org/10.1016/j.ymgmr.2016.06.005
Biallelic hypomorphic variants in <i>CAD</i> cause uridine‐responsive macrocytic anaemia with elevated haemoglobin‐A2
2023 · British Journal of Haematology · 1 citations
https://doi.org/10.1111/bjh.19215
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