Results 341 to 350 of about 390,444 (399)

Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review. [PDF]

Orphanet J Rare Dis
O'Sullivan F, Tomazos I, van Spronsen FJ, Szabo SM, Venkataraman M, Huria L, Smith N, Molony L, Ingalls K, Somera-Molina K, Zhang R, Harding CO.   +11 more
europepmc   +1 more source

Elevated plasma phenylalanine predicts mortality in critical patients with heart failure

ESC Heart Failure, 2020
Previous studies found a relationship between elevated phenylalanine levels and poor cardiovascular outcomes. Potential strategies are available to manipulate phenylalanine metabolism.
Chao-hung Wang, Chi-wen Cheng, Chien-ming Chu   +2 more
exaly   +2 more sources

Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria

Journal of Inherited Metabolic Disease, 2020
Alkaptonuria (AKU) is caused by homogentisate 1,2‐dioxygenase deficiency that leads to homogentisic acid (HGA) accumulation, ochronosis and severe osteoarthropathy.
Juliette H Hughes, Anna M Milan, Shirley Judd   +2 more
exaly   +2 more sources

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Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency

Acta Paediatrica, 2002
The aim of this study was to determine whether any relationship exists between the severity of mutation of the phenylalanine hydroxylase (PAH) gene and the plasma concentrations of phenylalanine (Phe) and tyrosine (Tyr) under fasting and semifasting conditions among heterozygotes in a matched case-control study.
E. Verduci, E. Riva, C. Agostoni, S. Leviti, L. Fiori, A.M. Lammardo, M. L. Biondi, M. Giovannini   +7 more
openaire   +5 more sources

Effect of dietary phenylalanine level on growth performance, body composition, and biochemical parameters in plasma of juvenile hybrid tilapia, Oreochromis niloticus × Oreochromis aureus

Journal of the World Aquaculture Society, 2020
An 8‐week feeding trial with juvenile hybrid tilapia (Oreochromis niloticus × Oreochromis aureus) was conducted to assess the effects of dietary phenylalanine on growth, body composition, and biochemical parameters in plasma.
Wei Xiao, Zhi‐Ying Zou, Dayu Li, Jinglin Zhu, Y. Yue, Hong Yang   +5 more
semanticscholar   +1 more source

Redesign of a Phenylalanine Aminomutase into a Phenylalanine Ammonia Lyase

ChemCatChem, 2013
AbstractAn aminomutase, naturally catalyzing the interconversion of (S)‐α‐phenylalanine and (R)‐β‐phenylalanine, was converted into an ammonia lyase catalyzing the nonoxidative deamination of phenylalanine to cinnamic acid by a rational single‐point mutation.
Sebastian Bartsch, Gjalt G. Wybenga, Maaike Jansen, Matthew M. Heberling, Bian Wu, Bauke W. Dijkstra, Dick B. Janssen   +6 more
openaire   +2 more sources

Isozymes of Phenylalanine Hydroxylase [PDF]

Science, 1972
Three isozymes of phenylalanine hydroxylase exist in adult rat liver. They are chromatographically unique. Partial characterization suggests that they are similar in chemical properties and differ only in charge. Estimation of the Stokes radii indicates that the isozymes have similar molecular weights of about 200,000. Two isozymes exist in human fetal
Paul J. Geiger, John A. Barranger, A. Huzino, Samuel P. Bessman   +3 more
openaire   +2 more sources

Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia

Journal of Inherited Metabolic Disease, 2000
AbstractTyrosinaemia types I and II are caused by enzyme deficiencies in the tyrosine catabolism pathway. Successful treatment is possible with the novel enzyme inhibitor NTBC in tyrosinaemia type I and with dietary tyrosine and phenylalanine restriction in both conditions.
J. V. Leonard, K. G. Van Wyk, Peter E. Clayton, Callum Wilson   +3 more
openaire   +3 more sources

Effects of tetrahydrobiopterin and phenylalanine on in vivo human phenylalanine hydroxylase by phenylalanine breath test

Molecular Genetics and Metabolism, 2007
BH(4) administration results in the reduction of blood phenylalanine level in patients with tetrahydrobiopterin (BH(4))-responsive phenylalanine hydroxylase (PAH) deficiency. The mechanism underlying BH(4) response remains unknown. Here, we studied the effects of BH(4) and phenylalanine on in vivo PAH activity of normal controls using the phenylalanine
Tomoko Sakaguchi, Minoru Asada, Yoshiyuki Okano, Kazuhiko Takatori, Tsunekazu Yamano, Masahiro Kajiwara, Satoshi Kudo   +6 more
openaire   +3 more sources

Activation of phenylalanine hydroxylase by phenylalanine

Biochimica et Biophysica Acta (BBA) - Enzymology, 1971
Abstract 1. 1. Phenylalanine activates phenylalanine hydroxylase ( l -phenylalanine, tetrahydropteridine:oxygen oxidoreductase (4-hydroxylating), EC 1.14.3.1), when dithiothreitol is used to regenerate 2-amino-4-hydroxy-6,7-dimethyltetrahydropteridine. 2. 2.
openaire   +3 more sources