Phenylketonuria and BH4 Deficiencies (UNI-MED Science), 4th Edition (PDF)

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File Size : 1.9 MB

The book discusses the past, present, and future efforts related to phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficiencies. It explores new treatment options such as enzyme substitution therapy and gene therapy, and how patient genotype determines the phenotype. The book provides a biochemical, neurological, and psychological context for professionals, patients, and their families. Published by UNI-MED Verlag AG on July 31, 2021, the book has ASIN B09BQYHKJD and is in English.

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