Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria
about
Tetrahydrobiopterin Supplementation: Elevation of Tissue Biopterin Levels Accompanied by a Relative Increase in Dihydrobiopterin in the Blood and the Role of Probenecid-Sensitive Uptake in Scavenging Dihydrobiopterin in the Liver and Kidney of RatsFrom structural biology to designing therapy for inborn errors of metabolismTowards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense VariantsCorrelation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.First structure of full-length mammalian phenylalanine hydroxylase reveals the architecture of an autoinhibited tetramerGenetics of Phenylketonuria: Then and Now.Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain.Organic anion transporters, OAT1 and OAT3, are crucial biopterin transporters involved in bodily distribution of tetrahydrobiopterin and exclusion of its excess.The complete European guidelines on phenylketonuria: diagnosis and treatment.Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.Subacute onset leukodystrophy and visual-spatial disorders revealing phenylketonuria combined with homocysteinmia in adulthood: A case report.Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice.Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish.
P2860
Q28554561-6BC88A89-4F4C-4A31-B2EF-05168258389DQ28828914-2A18FA05-4460-4182-8C40-7929BF322070Q36015435-27A7DF52-F212-4BF9-AE86-8BA5FBF4CD4FQ36426890-3DA80361-8B7E-4EEE-BC04-C76987D82AE2Q36658925-19584AC3-F339-47FF-A547-5CA4380A2EF2Q38751728-7052F74E-06D4-457B-85C2-71EEB1977B6AQ39859787-E9570F37-D82B-4663-96D4-04871907292AQ42372541-FE22FE72-83C0-4B82-8219-C9A44211395AQ42376686-85A2716B-CD86-4533-8711-80BF2D256440Q49484218-68D06D95-D323-4E40-96EB-E1BECEDCCB01Q49712173-746824C8-D7C9-4D6E-8A6B-B8466BFCF8C3Q52362136-CB3B0439-1B25-4AB6-8174-376F401B844EQ55266136-89BD71A5-A743-4B3B-AC33-E8B12EE4D6BA
P2860
Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Linking genotypes database wit ...... correlation in phenylketonuria
@ast
Linking genotypes database wit ...... correlation in phenylketonuria
@en
type
label
Linking genotypes database wit ...... correlation in phenylketonuria
@ast
Linking genotypes database wit ...... correlation in phenylketonuria
@en
prefLabel
Linking genotypes database wit ...... correlation in phenylketonuria
@ast
Linking genotypes database wit ...... correlation in phenylketonuria
@en
P2093
P2860
P50
P356
P1476
Linking genotypes database wit ...... correlation in phenylketonuria
@en
P2093
Belen Perez
Brian D Marsden
Sarah Wettstein
Wyatt W Yue
P2860
P2888
P304
P356
10.1038/EJHG.2014.114
P577
2014-06-18T00:00:00Z