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| http://dx.doi.org/10.2460/javma.20.10.0581 | DOI Listing |
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Phenylketonuria (PKU), an autosomal recessive disease caused by a deficiency in the phenylalanine-4-hydroxylase enzyme or its cofactor tetrahydrobiopterin, is characterized by excessive phenylalanine (Phe) and reduced tyrosine (Tyr) levels and typically manifests neurologically. Even early treated PKU patients with proper metabolic control, obtained immediately after birth upon diagnosis of the disease, show late-onset neurological complications. Although the disease has already been researched for over 90 years, the complexity of its neurological pathophysiology has only recently been unraveled.
View Article and Find Full Text PDFMoyamoya Syndrome in Patients With Down Syndrome and Acute Lymphoblastic Leukemia.
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View Article and Find Full Text PDFIntraindividual Optic Nerve Sheath Variation and Intracranial Pressure Changes: A Systematic Review and Meta-Analysis.
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Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.
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