Results 131 to 140 of about 38,679 (221)

Impact of Fluorinated Ionic Liquids on Human Phenylalanine Hydroxylase-A Potential Drug Delivery System. [PDF]

Nanomaterials (Basel), 2022
Alves MMS, Leandro P, Mertens HDT, Pereiro AB, Archer M.   +4 more
europepmc   +1 more source

Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China

Genetics and Molecular Biology, 2012
The variation in mutations in exons 3, 6, 7, 11 and 12 of the phenylalanine hydroxylase (PAH) gene was investigated in 59 children with phenylketonuria (PKU) and 100 normal children.
Yong-An Zhou, Yun-Xia Ma, Quan-Bin Zhang, Wei-Hua Gao, Jian-Ping Liu, Jian-Ping Yang, Gai-Xiu Zhang, Xiao-Gang Zhang, Liang Yu   +8 more
doaj  

Manipulation of a cation-π sandwich reveals conformational flexibility in phenylalanine hydroxylase. [PDF]

Biochimie, 2021
Arturo EC, Merkel GW, Hansen MR, Lisowski S, Almeida D, Gupta K, Jaffe EK.   +6 more
europepmc   +1 more source

Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis. [PDF]

Orphanet J Rare Dis, 2021
Foreman PK, Margulis AV, Alexander K, Shediac R, Calingaert B, Harding A, Pladevall-Vila M, Landis S.   +7 more
europepmc   +1 more source

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  

Unravelling the Complex Denaturant and Thermal-Induced Unfolding Equilibria of Human Phenylalanine Hydroxylase. [PDF]

Int J Mol Sci, 2021
Conde-Giménez M, Sancho J.
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

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

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