Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients. [electronic resource]
Producer: 20200401Description: 147-158 p. digitalISSN:- 1573-2665
- Carbohydrate Metabolism, Inborn Errors -- genetics
- Child
- Child, Preschool
- Endocrine Cells -- metabolism
- Female
- Genetic Association Studies -- methods
- Genotype
- Hormones -- metabolism
- Humans
- Infant
- Infant, Newborn
- Male
- Phenotype
- Retrospective Studies
- Surveys and Questionnaires
- Transaldolase -- deficiency
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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