Results 91 to 100 of about 538,734 (195)

Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in dopa-responsive dystonia [PDF]

, 2014
Congenital tyrosine hydroxylase deficiency (THD) is found in autosomal-recessive Dopa-responsive dystonia and related neurological syndromes. The clinical manifestations of THD are variable, ranging from early-onset lethal disease to mild Parkinson ...
Fossbakk, Agnete, Kleppe, Rune, Haavik, Jan, Martinez, Aurora, Knappskog, Per   +4 more
core   +1 more source

Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals

Journal of Inborn Errors of Metabolism and Screening, 2015
Phenylketonuria (PKU) is an inherited metabolic disorder derived from a deficiency in the enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine (Phe) into tyrosine (Tyr).
Roseani Andrade MSc, Vaneisse Monteiro MSc, Cléber Cruz MSc, Carla Silva BS, Adriana Bastos MSc, Luiz Silva PhD   +5 more
doaj   +1 more source

Determination of Phenylalanine and Tyrosine by High Performance Liquid Chromatography-Tandem Mass Spectrometry.

, 2016
Hyperphenylalaninemia/phenylketonuria (PKU) is one of the most common inborn errors of amino acid metabolism affecting about 1:15,000 infants in the United States.
Garg, Uttam, Peat, Judy
core   +1 more source

Long‐Term Safety and Efficacy of Pegvaliase in Japanese Adults With Phenylketonuria: Final Results of a Phase III Trial

JIMD Reports
Phenylketonuria (PKU) is an inborn error of metabolism leading to phenylalanine (Phe) accumulation and consequent neurological, neurocognitive, and psychiatric symptoms. Pegvaliase, a pegylated recombinant phenylalanine ammonia lyase that metabolizes Phe,
Yoko Nakajima, Mika Ishige, Tetsuya Ito, Takashi Hamazaki, Mitsuhiro Kuwahara, Lawrence Lee, Haruo Shintaku   +6 more
doaj   +1 more source

Influence of amino acids on rat liver phenylalanine hydroxylase activity

, 1964
The influence of oral and of injected amino acids on rat liver phenylalanine hydroxylase activity has been studied in both short-term and extended experiments.
R. A. Freedland, M. C. Krakowski, Harry A. Waisman   +2 more
core   +1 more source

A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia Novo padrão de mutação missense no gene GCH1 na distonia dopa-responsiva

Arquivos de Neuro-Psiquiatria, 2007
Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1) deficiency or autosomal recessive tyrosine hydroxylase deficiency.
Rosana H. Scola, Carla Carducci, Vanise G. Amaral, Paulo J. Lorenzoni, Helio A.G. Teive, Teresa Giovanniello, Lineu C. Werneck   +6 more
doaj   +1 more source

Phenylalanine Binding Is Linked to Dimerization of the Regulatory Domain of Phenylalanine Hydroxylase

, 2015
Analytical ultracentrifugation has been used to analyze the oligomeric structure of the isolated regulatory domain of phenylalanine hydroxylase. The protein exhibits a monomer–dimer equilibrium with a dissociation constant of ∼46 μM; this value is ...
Shengnan Zhang (1340988), Kenneth M. Roberts (1340985), Paul F. Fitzpatrick (1340982)   +2 more
core   +1 more source

Importância do diagnóstico e tratamento da fenilcetonúria Diagnoses and treatment of phenylketonuria

Revista de Saúde Pública, 2000
A fenilcetonúria (PKU) é o mais comum dos erros congênitos do metabolismo de aminoácidos. Resulta da deficiência da fenilalanina hidroxilase, enzima que catalisa a conversão de fenilalanina em tirosina.
Nádia VM de Mira, Ursula M Lanfer Marquez   +1 more
doaj   +1 more source

Partial purification of phenylalanine hydroxylase from dog liver

, 1975
Phenylalanine hydroxylase from dog liver was purified ten fold. The physical and kinetic properties of phenylalanine hydroxylase from dog liver in many respects closely resemble physical and kinetic properties of the same enzyme from other organism ...
Ross, Peggy L. Horner
core  

Dynamic regulation of phenylalanine hydroxylase by simulated redox manipulation.

, 2012
Recent clinical studies revealed increased phenylalanine levels and phenylalanine to tyrosine ratios in patients suffering from infection, inflammation and general immune activity.
Gudrun M. Spitzer (109008), Julian E Fuchs, Hannes G Wallnoefer, Susanne von Grafenstein (109004), Klaus R. Liedl (109013), Klaus R Liedl, Roland G. Huber (109002), Julian E. Fuchs (108999), Roland G Huber, Susanne von Grafenstein, Gudrun M Spitzer, Dietmar Fuchs, Hannes G. Wallnoefer (109006), Dietmar Fuchs (109010), Fuchs Dietmar, Liedl Klaus R., Wallnoefer Hannes G., Spitzer Gudrun M., Huber Roland G., von Grafenstein Susanne, Fuchs Julian E.   +20 more
core   +1 more source