Literature DB >> 9529368

Are we ready to try to cure alkaptonuria?

B N La Du1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9529368      PMCID： PMC1377048          DOI： 10.1086/301810

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


× No keyword cloud information.
  6 in total

1.  The nature of the defect in tyrosine metabolism in alcaptonuria.

Authors:  B N LA DU; V G ZANNONI; L LASTER; J E SEEGMILLER
Journal:  J Biol Chem       Date:  1958-01       Impact factor: 5.157

2.  The molecular basis of alkaptonuria.

Authors:  J M Fernández-Cañón; B Granadino; D Beltrán-Valero de Bernabé; M Renedo; E Fernández-Ruiz; M A Peñalva; S Rodríguez de Córdoba
Journal:  Nat Genet       Date:  1996-09       Impact factor: 38.330

3.  Molecular defects in alkaptonuria.

Authors:  A Gehrig; S R Schmidt; C R Müller; S Srsen; K Srsnova; W Kress
Journal:  Cytogenet Cell Genet       Date:  1997

4.  The human homogentisate 1,2-dioxygenase (HGO) gene.

Authors:  B Granadino; D Beltrán-Valero de Bernabé; J M Fernández-Cañón; M A Peñalva; S Rodríguez de Córdoba
Journal:  Genomics       Date:  1997-07-15       Impact factor: 5.736

5.  Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.

Authors:  D Beltrán-Valero de Bernabé; B Granadino; I Chiarelli; B Porfirio; E Mayatepek; R Aquaron; M M Moore; J J Festen; R Sanmartí; M A Peñalva; S R de Córdoba
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

6.  aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16.

Authors:  X Montagutelli; A Lalouette; M Coudé; P Kamoun; M Forest; J L Guénet
Journal:  Genomics       Date:  1994-01-01       Impact factor: 5.736
  6 in total
  5 in total

1.  Progress in Alkaptonuria--are we near to an effective therapy?

Authors:  L R Ranganath; O G Timmis; J A Gallagher
Journal:  J Inherit Metab Dis       Date:  2015-09       Impact factor: 4.982

Review 2.  Garrod's foresight; our hindsight.

Authors:  C R Scriver
Journal:  J Inherit Metab Dis       Date:  2001-04       Impact factor: 4.982

3.  Radiologic features of lumbar spine in ochronosis in late stages.

Authors:  Petek Bayindir; Gülgün Yilmaz Ovali; Yüksel Pabuşçu; Cüneyt Temiz; Tuncay Duruoz
Journal:  Clin Rheumatol       Date:  2005-10-25       Impact factor: 2.980

4.  Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.

Authors:  U Felbor; Y Mutsch; F Grehn; C R Müller; W Kress
Journal:  Br J Ophthalmol       Date:  1999-06       Impact factor: 4.638

5.  Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentation.

Authors:  Peter J M Wilson; Lakshminarayan R Ranganath; George Bou-Gharios; James A Gallagher; Juliette H Hughes
Journal:  JIMD Rep       Date:  2020-11-12
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.