Phenylketonuria: an inborn error of phenylalanine metabolism.
about
Direct evidence for a phenylalanine site in the regulatory domain of phenylalanine hydroxylaseNeuropathological Mechanisms of Seizures in Autism Spectrum DisorderMeasuring head circumference: Update on infant microcephalyPhenylketonuria Pathophysiology: on the Role of Metabolic AlterationsNewborn screening and related policy against Phenylketonuria in ChinaEmerging trends in nutraceutical applications of whey protein and its derivativesIdentification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report.Newborn screening.A conserved acidic residue in phenylalanine hydroxylase contributes to cofactor affinity and catalysis.Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China.Parkinsonism in phenylketonuria: a consequence of dopamine depletion?Macromolecular crowding induces holo α-lactalbumin aggregation by converting to its apo formDupuytren's: a systems biology disease.Preparation and evaluation of a novel therapeutic dairy-based drink for phenylketonuriaThe Amino Acid Specificity for Activation of Phenylalanine Hydroxylase Matches the Specificity for Stabilization of Regulatory Domain Dimers.Mitochondrial function and lifespan of mice with controlled ubiquinone biosynthesisMolecular analysis of exons 6 and 7 of phenylalanine hydroxylase gene mutations in Phenylketonuria patients in Western Iran.Domain Movements upon Activation of Phenylalanine Hydroxylase Characterized by Crystallography and Chromatography-Coupled Small-Angle X-ray Scattering.The personal burden for caregivers of children with phenylketonuria: A cross-sectional study investigating time burden and costs in the UK.Disruption of phenylalanine hydroxylase reduces adult lifespan and fecundity, and impairs embryonic development in parthenogenetic pea aphidsEffect of ultrafiltered milk permeate and non-dairy creamer powder concentration on low phenylalanine yoghurt's physicochemical properties during storage.Phenylalanine metabolism regulates reproduction and parasite melanization in the malaria mosquitoPost-Translational Incorporation of L-Phenylalanine into the C-Terminus of α-Tubulin as a Possible Cause of Neuronal Dysfunction.The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran.Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria.Breastfeeding infants with phenylketonuria in the United States and Canada.Allosteric regulation of phenylalanine hydroxylase.l-phenylalanine modulates gut hormone release and glucose tolerance, and suppresses food intake through the calcium-sensing receptor in rodents.Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders.An Efficient Trio-Based Mini-Haplotyping Method for Genetic Diagnosis of Phenylketonuria.Kinetic mechanism of phenylalanine hydroxylase: intrinsic binding and rate constants from single-turnover experiments.Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuriaTherapeutic implication of L-phenylalanine aggregation mechanism and its modulation by D-phenylalanine in phenylketonuria.Preparation of a selective L-phenylalanine imprinted polymer implicated in patients with phenylketonuria.Oligodendrocyte development and myelinogenesis are not impaired by high concentrations of phenylalanine or its metabolites.Epilepsy and phenylketonuria: a case description and EEG-fMRI findings.Molecular Genetic Analysis of the Variable Number of Tandem-Repeat Alleles at the Phenylalanine Hydroxylase Gene in Iranian Azeri Turkish Population.Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies.Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency.Investigation of Five Common Mutations on Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from Two Provinces in North of Iran.
P2860
Q24601283-45FFD579-004C-4514-BC4A-2112A2E2FDF2Q26744759-7EE9CDA5-DD09-47D6-B915-343028514D64Q26778549-B9B97BC1-45FF-41D0-8612-21C0B53A3CA9Q26783331-A2ADB91A-CF4D-4F94-9E03-E2F6A0FF3A30Q27012734-2FD6DC82-0FF0-4379-82CC-A91577FC986DQ28069058-7CB2B26F-72BA-4FFB-94CD-C9F7C836A4A6Q33711123-AC421460-C94B-4DDF-B3DF-39D779E1D4BDQ33868506-28A1A42F-D678-4D0B-88EC-DF81EC0A160CQ34463948-470DFEE3-D3C5-4DB5-9B86-EE85AA862E7FQ34770043-E24EBD06-F6D6-434D-9B6F-26F409812880Q35220716-7B686BD3-C3DF-4722-AC8F-8D2A2D3FDC7EQ35463009-6540BFD4-56CD-4F4B-B5CD-ECB38737F887Q35840713-46958F8A-72AC-4379-8A6E-A1D9E6080C67Q35966561-FE1D71C9-7534-48FB-B2B0-4F7A462EE7A2Q35999931-578524DF-CCC7-475F-817A-9F5BC73A5A96Q36471174-CC26CD9A-69B0-48AE-8132-8F1EFC5D7C26Q36851062-A976ADC7-647B-4B34-92F9-DE29D1EB37D8Q36977345-5D2B9B1A-26CE-4E9B-A9EA-B3B0CCAC1609Q37227620-DB0B49D4-0A75-45CC-B4AE-F1987ECDA351Q37303519-AEBC5D53-3B12-48E7-A566-3C08F1EBD173Q37313936-9C5E181B-958C-4A09-9B0F-05C11A0C36CFQ37444948-FAA35A99-1B88-4588-A07F-F9A509F0B2E3Q37459914-C4DEB91A-08DC-4E3C-88F3-ED2BA66A631CQ37498454-87D230C8-AB9E-43ED-B743-98A3D62F6949Q37510281-E9733CE9-0A07-4AF2-BF74-4CBD76941CC2Q37712722-F9B4495E-54D7-47C4-A499-F2296A21A0E5Q37946639-E2FE930A-7A19-4B67-9A77-5150708BED88Q38632450-D80875F4-A02A-455A-AAB6-7754067EFA78Q41161393-E0FD71D1-028A-4938-8C6D-6DCCE56236F3Q41712560-28B1523C-EAAD-4E41-A06E-165DD0A5445AQ41817640-61343719-44CD-44D1-BA2B-352E2F05C115Q41820914-F9898C49-EF19-41CF-A325-800FE1353496Q41882919-E787B73F-5F1D-4570-B3B5-935909C44AE6Q42090630-A7D8F2E9-A353-40C0-AEEB-D9ACD459F7F9Q42172645-35CEBB0A-9CAC-4E6E-8090-815CA09E3DF0Q42910846-F449735E-28AE-499A-9219-1238416C1FFBQ43249721-E7FCBF48-97BC-4AD4-A308-39F991FBAA78Q45874121-1FF934A2-421E-40D4-B114-B05796FB34C4Q47116443-2059B6DF-86C1-49AD-9316-F7189B1932BFQ47146216-4596F7F8-B417-4141-A6BD-F0392F6CA221
P2860
Phenylketonuria: an inborn error of phenylalanine metabolism.
description
2008 nî lūn-bûn
@nan
2008 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Phenylketonuria: an inborn error of phenylalanine metabolism.
@ast
Phenylketonuria: an inborn error of phenylalanine metabolism.
@en
Phenylketonuria: an inborn error of phenylalanine metabolism.
@nl
type
label
Phenylketonuria: an inborn error of phenylalanine metabolism.
@ast
Phenylketonuria: an inborn error of phenylalanine metabolism.
@en
Phenylketonuria: an inborn error of phenylalanine metabolism.
@nl
prefLabel
Phenylketonuria: an inborn error of phenylalanine metabolism.
@ast
Phenylketonuria: an inborn error of phenylalanine metabolism.
@en
Phenylketonuria: an inborn error of phenylalanine metabolism.
@nl
P2093
P2860
P1476
Phenylketonuria: an inborn error of phenylalanine metabolism
@en
P2093
Cyril D S Mamotte
John R Burnett
Robin A Williams
P2860
P577
2008-02-01T00:00:00Z