Research areas

  • RJ101 Child Health. Child health services - Pediatrician, Biochemical Geneticist, Neurometabolic diseases, Preclinical therapy development, PDE, GA1

Research output

  1. Exome Sequencing and the Management of Neurometabolic Disorders

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

  2. NANS-mediated synthesis of sialic acid is required for brain and skeletal development

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

  3. Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

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

  4. Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials

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

  5. The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource

    Research output: Contribution to journal › Review article › Academic › peer-review

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