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Alexandra M. Dumitrescu

University of Chicago

130

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4027

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Human type 1 Iodothyronine deiodinase (DIO1) mutations cause abnormal thyroid hormone metabolism

2021
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Dietary Selenium Deficiency Partially Mimics the Metabolic Effects of Arsenic.

2021 Nutrients
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EXTENDED ABSORPTION OF LIOTHYRONINE FROM POLY-ZINC-LIOTHYRONINE (PZL): RESULTS FROM A PHASE 1, DOUBLE-BLIND, RANDOMIZED, AND CONTROLLED STUDY IN HUMANS.

2021 Thyroid
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AAV9-MCT8 delivery at juvenile stage ameliorates neurological and behavioral deficits in an AHDS mouse model

2021 bioRxiv
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Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism.

2021 Thyroid
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Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHβ

2020 Hormone Research in Paediatrics
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Prenatal treatment of thyroid hormone cell membrane transport defect caused by MCT8 gene mutation

2020 Thyroid
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Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 variants.

2020 Thyroid
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OR01-01 Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism

2020 Journal of the Endocrine Society
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Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.

2020 The Journal of Clinical Endocrinology and Metabolism
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