Late diagnosis of phenylketonuria with p.L48S/p.R408W genotype and late positive response to tetrahydrobiopterin - case presentation and literature review

• मुख्य लेखकों: Florentina Moldovanu (लेखक), Radu Bogdan Calin (लेखक), Micaela Iuliana Nanu (लेखक), Marina Ruxandra Otelea (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Hygeia Press di Corridori Marinella, 2020-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Phenylketonuria (PKU) is an autosomal recessive disease with important consequences on nervous system development, if not properly treated. Decrease of the antioxidative mechanisms, altered transport of amino acids through the blood-brain barrier, low brain protein synthesis, hypomyelination are the...