Results 141 to 150 of about 39,051 (241)

The Isoenzymes of Phenylalanine Hydroxylase in Humans [PDF]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1977
C E, Parker, J, Barranger, R, Newhouse, S, Bessman   +3 more
openaire   +2 more sources

Fenilcetonúria e suas variantes: revisão bibliográfica [PDF]

, 2008
A fenilcetonúria representa o erro do metabolismo dos aminoácidos mais comum na população caucasiana, atingindo 1/10.000 nascimentos. Esta doença, de transmissão autossómica recessiva, resulta da deficiência em fenilalanina hidroxilase ou de erros no ...
Cardoso, Inês Lopes, Machado, Joana
core  

Characterisation of Polyamines and Their Biosynthetic Pathways Contributing to Postharvest Anthracnose Resistance in Mango (Mangifera indica L.)

Plant Biotechnology Journal, Volume 24, Issue 5, Page 2765-2767, May 2026.
Bei Zhang, Limei Huang, Qingbiao Xie, Hongli Luo, Qiannan Wang, Bang An   +5 more
wiley   +1 more source

CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria. [PDF]

Sci Rep, 2021
Singh K, Cornell CS, Jackson R, Kabiri M, Phipps M, Desai M, Fogle R, Ying X, Anarat-Cappillino G, Geller S, Johnson J, Roberts E, Malley K, Devlin T, DeRiso M, Berthelette P, Zhang YV, Ryan S, Rao S, Thurberg BL, Bangari DS, Kyostio-Moore S.   +21 more
europepmc   +1 more source

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   +1 more source

Analysis of gene variation and long-term follow-up in children with phenylalanine hydroxylase deficiency diagnosed by newborn screening. [PDF]

Zhejiang Da Xue Xue Bao Yi Xue Ban, 2023
Sun M, Li Y, Li P, Li G, Yan Y, Zou H.
europepmc   +1 more source

Hydroxylation of Tryptophan by Phenylalanine Hydroxylase

Journal of Biological Chemistry, 1962
J, RENSON, H, WEISSBACH, S, UDENFRIEND
openaire   +2 more sources

E3 Ubiquitin Ligase APC/C^Cdh1 Regulation of Phenylalanine Hydroxylase Stability and Function. [PDF]

Int J Mol Sci, 2020
Tyagi A, Sarodaya N, Kaushal K, Chandrasekaran AP, Antao AM, Suresh B, Rhie BH, Kim KS, Ramakrishna S.   +8 more
europepmc   +1 more source

New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride

Biologics: Targets & Therapy, 2010
Cary O HardingDepartments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, Oregon, USAAbstract: Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug ...
Cary O Harding
doaj  

A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency. [PDF]

Mol Genet Metab, 2020
Richards DY, Winn SR, Dudley S, Fedorov L, Rimann N, Thöny B, Harding CO.   +6 more
europepmc   +1 more source