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Research |
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Children's Metabolism Program is actively engaged in groundbreaking basic science and clinical research. Below are some examples of research currently being investigated at Children's Hospital Boston:
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- Maternal Phenylketonuria and other Maternal Inborn Errors of Metabolism and their effects on the fetus as well as treatment during pregnancy (these include Maternal Homocystinuria, Maternal Histidinemia, Maternal Cystathioninemia, etc.)
- Pharmacodynamics of tyrosine supplementation in Phenylketonuria
- Role of NTBC as ancillary treatment in Phenylketonuria to address neuropsychological deficits
- Phenylalanine hydroxylase genotypes and degree of hyperphenylalaninemia in non-PKU mild hyperphenylalaninemia
- Sulfur amino acid abnormalities in the methionine catabolic disorders: differentiating Homocystinuria, Isolated Hypermethioninemia, and Transient Hypermethioninemia in the newborn
- Psychosocial factors and support mechanisms in Maternal Phenylketonuria
- Clinical trials for enzyme replacement in lysosomal storage disease
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