Research output

  1. Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia

    Research output: Contribution to journal › Article › Academic › peer-review

  2. Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene

    Research output: Contribution to journal › Article › Academic › peer-review

  3. Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways

    Research output: Contribution to journal › Article › Academic › peer-review

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ID: 5181476