Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria-Reference-Cited by-同舟云学术

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Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria

Published:1996-01 Issue:S1 Volume:155 Page:S11-S15
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Burgard P.,Rupp A.,Konecki D. S.,Trefz F. K.,Schmidt H.,Lichter-Konecki U.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/PL00014222.pdf

Reference15 articles.

1. Apold J, Eiken HG, Svensson E, Kunert E, Kozak L, Cechak P, Güttler F, Giltay J, Lichter-Konecki U, Melle D, Jaruzelska JM, Woo SLC (1993) The phenylketonuria G272X/haplotype 7 mutation in European populations. Hum Genet 92:107–109

2. Dasovich M, Konecki D, Lichter-Konecki U, Eisensmith RC, Güttler F, Naughton E, Mulline C, Woo SLC (1991) Molecular characterization of PKU allele prevalent in Southern Europe and Ireland. Somatic Cell Mol Genet 17:303–309

3. Dworniczak B, Aulehla-Scholz C, Kalaydjieva L, Bartholomé K, Grudda K, Horst J (1991) Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe. Genomics 11: 242–246

4. Eisensmith RC, Woo SLC (1992) Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene. Hum Mutation 1:13–23

5. Kaufman S (1976) Phenylketonuria: biochemical mechanisms. Adv Neurochem 2:1–132

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1. Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth;Scientific Reports;2023-06-12

2. Emotional health in early-treated adults with phenylketonuria (PKU): Relationship with cognitive abilities and blood phenylalanine;Journal of Clinical and Experimental Neuropsychology;2019-12-01

3. Propagation of Plasma L-Phenylalanine Concentration Fluctuations to the Neurovascular Unit in Phenylketonuria: An in silico Study;Frontiers in Physiology;2019-04-02

4. Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria;Nutrition Research Reviews;2018-10-04

5. The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: Effects across tasks and developmental stages.;Neuropsychology;2017-03

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