Results 11 to 20 of about 24,432 (224)

Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology. [PDF]

Biosci Rep, 2021
Qiang R, Wang L, He J, Xu WJ, Li W, Cai N, Wang XB, Zhang R, Zhang LP, Ma XP, Wei C, Song C, Yu W, Wang X, Li X.   +14 more
europepmc   +3 more sources

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study. [PDF]

JIMD Rep
Yuskiv N, Saad A, Potter BK, Stockler-Ipsiroglu S, Mitchell JJ, Hawken S, Tingley K, Pugliese M, Lamoureux M, Chow AJ, Kronick JB, Wilson K, Feigenbaum A, Goobie S, Inbar-Feigenberg M, Little J, Mercimek-Andrews S, Pender A, Prasad C, Schulze A, Trakadis Y, Ho G, Vallance H, Austin V, Vandersteen A, Yu AC, Rockman-Greenberg C, Mhanni AA, Chakraborty P.   +28 more
europepmc   +3 more sources

Detection of IVS4+1G>A mutation in phenylalanine hydroxylase gene in North of Iran using PCR-sequencing [PDF]

Journal of Shahrekord University of Medical Sciences, 2023
Background and aims: Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine (Phe) metabolism. Mutations in the phenylalanine hydroxylase (PAH) gene are the main reason for the incidence of PKU.
Maryam Amini Chelak, Zeinab Khazaei Koohpar   +1 more
doaj   +1 more source

Effect of experimental phenylketonuria on some organs of pregnant mothers of albino rats and their young’s during perinatal life. [PDF]

Journal of Bioscience and Applied Research, 2016
Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.It results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of ...
Hassan. I. Elsayyad, Hany A. Hefny, Mahmoud E. Mohallal, Hala . M. Ebied   +3 more
doaj   +1 more source

Mouse phenylalanine hydroxylase. Homology and divergence from human phenylalanine hydroxylase [PDF]

Biochemical Journal, 1990
The laboratory mouse represents an important model for the study of phenylalanine metabolism and the pathochemistry of phenylketonuria, yet mouse phenylalanine hydroxylase (PAH) has not been extensively studied. We report the cloning and sequencing of a mouse PAH cDNA, the expression of enzymic activity from the mouse PAH cDNA clone and the ...
F D, Ledley, H E, Grenett, B S, Dunbar, S L, Woo   +3 more
openaire   +2 more sources

Sustained Correction of a Murine Model of Phenylketonuria following a Single Intravenous Administration of AAVHSC15-PAH

Molecular Therapy: Methods & Clinical Development, 2020
Phenylketonuria is an inborn error of metabolism caused by loss of function of the liver-expressed enzyme phenylalanine hydroxylase and is characterized by elevated systemic phenylalanine levels that are neurotoxic.
Seemin S. Ahmed, Hillard Rubin, Minglun Wang, Deiby Faulkner, Arnold Sengooba, Serena N. Dollive, Nancy Avila, Jeff L. Ellsworth, Diana Lamppu, Maria Lobikin, Jason Lotterhand, Laura Adamson-Small, Teresa Wright, Albert Seymour, Omar L. Francone   +14 more
doaj   +1 more source

PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population

Kaohsiung Journal of Medical Sciences, 2018
Phenylketonuria (PKU) is a common autosomal recessive disorder of phenylalanine metabolism and mainly results a deficiency of phenylalanine hydroxylase gene (PAH). The incidence of various PAH mutations have race and ethnicity differences.
Zhen-Wen Wang, Shi-Wen Jiang, Bao-Cheng Zhou   +2 more
doaj   +1 more source

BmPAH catalyzes the initial melanin biosynthetic step in Bombyx mori. [PDF]

PLoS ONE, 2013
Pigmentation during insect development is a primal adaptive requirement. In the silkworm, melanin is the primary component of larval pigments. The rate limiting substrate in melanin synthesis is tyrosine, which is converted from phenylalanine by the rate-
Ping Chen, Li Li, Jiying Wang, Haiyin Li, Yan Li, Yin Lv, Cheng Lu   +6 more
doaj   +1 more source

Phenylketonuria (PKU): A problem solved?

Molecular Genetics and Metabolism Reports, 2016
Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylalanine (Phe) to tyrosine. If left untreated, the resultant accumulation of excess blood Phe can cause physiological, neurological, and intellectual ...
Christine S. Brown, Uta Lichter-Konecki
doaj   +1 more source

Author Correction: Structure of full-length wild-type human phenylalanine hydroxylase by small angle X-ray scattering reveals substrate-induced conformational stability. [PDF]

Sci Rep, 2019
Tomé CS, Lopes RR, Sousa PMF, Amaro MP, Leandro J, Mertens HDT, Leandro P, Vicente JB.   +7 more
europepmc   +3 more sources