about
On the ocular findings in ochronosis: a systematic review of literatureMedical genetics and genomic medicine in the Dominican Republic: challenges and opportunitiesVisualizing the substrate-, superoxo-, alkylperoxo-, and product-bound states at the nonheme Fe(II) site of homogentisate dioxygenaseOchronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinoneFirst report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria.Investigating the Robustness and Diagnostic Potential of Extracellular Matrix Remodelling Biomarkers in Alkaptonuria.Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation DatabaseTwelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.Three cases of alkaptonuria in one family in Mazandaran Province, Iran.Redox proteomics gives insights into the role of oxidative stress in alkaptonuria.A two-electron-shell game: intermediates of the extradiol-cleaving catechol dioxygenases.Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review.Amyloidosis in alkaptonuria.Acute fatal metabolic complications in alkaptonuria.Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria.Alkaptonuria--case report.Identification of Homogentisate Dioxygenase as a Target for Vitamin E Biofortification in Oilseeds.Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment.A Three-Ring Circus: Metabolism of the Three Proteogenic Aromatic Amino Acids and Their Role in the Health of Plants and Animals.Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features.Single Amino Acid Substitution in Homogentisate Dioxygenase Affects Melanin Production in
P2860
Q21260367-AA9365DA-1C5B-4159-8579-0944ABAAAAFFQ27469108-14E51875-F83F-4771-B1D9-E6CFC5D0F62FQ27679094-9E159861-40F4-4BCD-8CC4-6A8418B6D415Q28287543-28A7D5B0-01FF-42A5-B988-F12B3046568FQ30366939-B1C85168-996C-4F44-8DAE-61B994F3813FQ36090540-5281B3C5-05B0-4221-9FB0-DEB111B5311EQ36433368-AEC4B55F-C20D-4FAC-83AE-35DD717EAB16Q36695799-532609BC-6B7C-41E8-8104-81E33D6AA2E2Q37128451-DA3A6178-5222-48C8-84FF-70B70F3E38C4Q38160929-C07A7C89-E5D7-4106-A3D5-A3B4419209C2Q38194935-16B1EBBF-4E62-4D2B-B0B9-DA9DBB4F4C25Q38197545-5D5C9842-3AC4-4A61-BF2A-95D63ECD060AQ38418724-615501CC-4B88-4DA2-9B45-49787526C8A5Q38644004-A7AB41F3-322D-466C-9833-063D4A993C67Q39109190-6A6D316A-4963-4D77-8EA0-3D67F78AC7D8Q41838463-D5C4EF5E-E22F-4742-AB1B-2532231D988DQ48338535-4C7320B2-73A6-41E9-AAFF-213A1B2B99BCQ49935371-A6485251-B1F7-44FE-BBC9-2FE13C3E63AEQ52571058-D3668F3A-905C-4AF9-AE97-C470BCBBB736Q52588914-B2029D5D-D8CC-4950-A86E-4C55D2A6BCABQ58573048-BD2DDDEC-8820-4F97-A394-817F3920B16B
P2860
description
2011 nî lūn-bûn
@nan
2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
An update on molecular genetics of Alkaptonuria (AKU).
@ast
An update on molecular genetics of Alkaptonuria (AKU).
@en
An update on molecular genetics of Alkaptonuria
@nl
type
label
An update on molecular genetics of Alkaptonuria (AKU).
@ast
An update on molecular genetics of Alkaptonuria (AKU).
@en
An update on molecular genetics of Alkaptonuria
@nl
prefLabel
An update on molecular genetics of Alkaptonuria (AKU).
@ast
An update on molecular genetics of Alkaptonuria (AKU).
@en
An update on molecular genetics of Alkaptonuria
@nl
P2860
P1476
An update on molecular genetics of Alkaptonuria (AKU).
@en
P2093
Andrea Zatkova
P2860
P2888
P304
P356
10.1007/S10545-011-9363-Z
P577
2011-07-01T00:00:00Z
P5875
P6179
1017079459