Research output

  1. Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency

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

  2. Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography

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

  3. Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β

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

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ID: 11060051