Results 111 to 120 of about 538,734 (195)

Structural basis of autoregulation of phenylalanine hydroxylase

, 1999
Phenylalanine hydroxylase converts phenylalanine to tyrosine, a rate-limiting step in phenylalanine catabolism and protein and neurotransmitter biosynthesis.
Goodwill, KE, Jennings, IG, Michell, BJ, Santarsiero, BD, House, CM, Stevens, RC, Cotton, RGH, Kobe, B, Kemp, BE   +8 more
core   +1 more source

FEATURED ARTICLE

, 2014
The objective of this study was to characterize levodopa (L-dopa)–induced dyskinesias in patients with tyrosine hydroxylase deficiency. Clinical observation was carried out on 6 patients who were diagnosed with tyrosine hydroxylase deficiency and were ...
Levodopa-induced Dyskinesias, Tyrosine Hydroxylase Deficiency   +1 more
core  

Co-localization of L-Phenylalanine Ammonia-Lyase and Cinnamate 4-Hydroxylase for Metabolic Channeling in Phenylpropanoid Biosynthesis

, 2004
Article on the co-localization of L-phenylalanine ammonia-lyase and cinnamate 4-hydroxylase for metabolic channeling in phenylpropanoid ...
Blancaflor, Elison B., Dixon, R. A., Achnine, Lahoucine, Rasmussen, Susanne   +3 more
core   +1 more source

Evaluation of bone mineral density and biochemical markers in pediatric patients with phenylketonuria

Molecular Genetics and Metabolism Reports
Objectives: Phenylketonuria is a hereditary condition caused by the deficiency of the enzyme phenylalanine hydroxylase, leading to abnormal phenylalanine metabolism.
Akram Ehsasat Vatan, M.D., Amin Mottaghizade Gargari, M.D., Arian Haghtalab, M.D., Nima Ebrahimpour Seraydar, M.D.   +3 more
doaj   +1 more source

Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia

, 2013
Phenylalanine (Phe) loading test is a useful tool in the differential diagnosis of dopa-responsive dystonia due to autosomal dominant or recessive GTP cyclohydrolase I (GTPCH) deficiency or autosomal recessive sepiapterin reductase (SR) deficiency.
Opladen, Thomas, Kühn, Andrea A, Hoffmann, Georg F, Blau, Nenad   +3 more
core   +1 more source

Tetrahydrobiopterin deficiencies in the Maltese population [PDF]

, 2002
A higher than usual frequency of hyperphenylalaninaemia due to tetrahydrobiopterin (BH4) deficiencies, specifically Dihydropteridine Reductase (DHPR) deficiency, is present in the Maltese population.
34th ESHG Conference, Naudi, R., Scerri, Christian A., Felice, A. E., Farrugia, Rosienne, Attard Montalto, S., Bartolo, C., Parascandolo, Raymond   +7 more
core  

The two molecular weight forms of rat phenylalanine hydroxylase are encoded by different messenger RNAs

, 1983
The two molecular weight forms of rat phenylalanine hydroxylase are encoded by different messenger ...
Julian Mercer (13076475), SM Hunt (14570279), RGH Cotton (14574842)   +2 more
core  

Phenylalanine hydroxylase gene haplotypes in Polynesians: Evolutionary origins and absence of alleles associated with severe phenylketonuria

, 1989
Phenylalanine hydroxylase gene haplotypes in Polynesians: Evolutionary origins and absence of alleles associated with severe ...
KNP Mickleson (14576384), HHM Dahl (14574527), Julian Mercer (13076475), K Jahromi (14576378), V Ferguson (14576381), M Hertzberg (13404438), RJ Trent (14576387)   +6 more
core  

Two apparent molecular weight forms of human and monkey phenylalanine hydroxylase are due to phosphorylation

, 1984
Two apparent molecular weight forms of human and monkey phenylalanine hydroxylase are due to ...
BE Kemp (11862284), RG Cotton (14528132), WJ McAdam (14574962), Julian Mercer (13076475), SC Smith (11760032)   +4 more
core  

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China. [PDF]

Sci Rep, 2018
Chen T, Xu W, Wu D, Han J, Zhu L, Tong F, Yang R, Zhao Z, Jiang P, Shu Q.   +9 more
europepmc   +1 more source