- ►pnas.org CN Sarkissian, Z Shao, F Blain, R Peevers, H … - Proceedings of the National Academy of Sciences, 1999 - National Acad Sciences Phenylketonuria (PKU), with its associated hyperphenylalaninemia (HPA) and
mental retardation, is a classic genetic disease and the first to have an
identified chemical cause of impaired cognitive development. Treatment from ... Cited by 85 - Related articles - BL Direct - All 11 versions
HL Levy - Proceedings of the National Academy of Sciences of …, 1999 - National Acad Sciences If one were to construct a fantasy about a human genetic disease for which all
is known and a cure available, phenylketonuria (PKU) is likely to come to mind.
In what other genetic disorder have the following been accomplished: ... Cited by 49 - Related articles - BL Direct - All 13 versions
R Matalon, R Koch, K Michals-Matalon, K … - Genetics in Medicine, 2004 - journals.lww.com Purpose: Phenylketonuria (PKU) is an autosomal recessive disorder caused by
mutations in the phenylalanine hydroxylase (PAH) gene. There have been more than
400 mutations identified in the PAH gene leading to variable degrees of ... Cited by 42 - Related articles - BL Direct - All 3 versions
W Kim, H Erlandsen, S Surendran, RC Stevens … - Molecular Therapy, 2004 - bh4.org Phenylketonuria (PKU) is an inborn error of amino acid metabolism caused by
phenylalanine hydroxylase (PAH) deficiency. Dietary treatment has been the
cornerstone for controlling systemic phenylalanine (Phe) levels in PKU for ... Cited by 31 - Related articles - View as HTML - All 8 versions
J Pietz, R Landwehr, A Kutscha, H Schmidt, L … - The Journal of pediatrics, 1995 - Elsevier Nevertheless, in otherwise healthy patients with PKU, the motivation to adhere
to a strict diet usually decreases during adolescence despite medical
recommendations. For patients who are no longer able or willing to adhere ... Cited by 27 - Related articles - BL Direct - All 9 versions
L Wang, A Gamez, CN Sarkissian, M Straub, MG … - Molecular genetics and metabolism, 2005 - Elsevier Structure-based protein engineering coupled with chemical modifications (eg,
pegylation) is a powerful combination to significantly improve the development
of proteins as therapeutic agents. As a test case, phenylalanine ... Cited by 23 - Related articles - All 5 versions
FD Ledley - Journal of Inherited Metabolic Disease, 1990 - Springer Summary: Rapid advances in recombinant DNA and gene transfer technolog- ies
provide the potential for somatic gene therapy of inborn errors of metabolism in
which the genetically defective function will be restored by transfer of a ... Cited by 23 - Related articles - All 2 versions
- ►neophe.info [PDF] R Matalon, S Surendran, KM Matalon, S Tyring … - Pediatrics, 2003 - Am Acad Pediatrics Objective. The treatment of phenylketonuria (PKU) in children and adults has
been difficult because of erosion of dietary adherence, leading to poor school
performance, impairment of executive functioning, loss of IQ, and ... Cited by 23 - Related articles - BL Direct - All 13 versions
J Liu, X Jia, J Zhang, H Xiang, W Hu, Y Zhou - Artificial Cells, Blood Substitutes and Biotechnology, 2002 - informahealthcare.com To replace the low phenylalanine (phe) diet treatment and to improve the quality
of life of the phenylketonuria (PKU) patients, A phenylalanine ammonia-lyase
(PAL) cDNA from petroselinum crispum was subcloned into expression vectors, ... Cited by 18 - Related articles - BL Direct - All 4 versions
