Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients-Reference-Cited by-同舟云学术

Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients

Published:2021-05 Issue:5 Volume:64 Page:104197
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Kisa Pelin Teke^ORCID,Gunduz Mehmet,Dorum Sevil,Uzun Ozlem Unal,Cakar Nafiye Emel,Yildirim Gonca Kilic,Erdol Sahin,Hismi Burcu Ozturk,Tugsal Handan Yarkan^ORCID,Ucar Ulku^ORCID,Gorukmez Ozlem,Gulten Zumrut Arslan,Kucukcongar Aynur,Bulbul Selda,Sari Ismail,Arslan Nur

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference30 articles.

1. Presentation of 14 alkaptonuria patients from Turkey;Akbaba;J. Pediatr. Endocrinol. Metab.,2020

2. Alkaptonuria in France: past experience and lessons for the future;Aquaron;J. Inherit. Metab. Dis.,2011

3. Alkaptonuria, ochronosis and ochronotic arthropathy in Mainland France and the Reunion Island. A report of clinical and molecular findings in 29 patients;Aquaron;Curr. Rheumatol. Rev.,2009

4. Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU;Ascher;Eur. J. Hum. Genet.,2019

5. Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients;Beltrán-Valero de Bernabé;Am. J. Hum. Genet.,1998

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Alkaptonuria;Nature Reviews Disease Primers;2024-03-07

2. China nationwide landscape of 16 types inherited metabolic disorders: a retrospective analysis on 372,255 clinical cases;Orphanet Journal of Rare Diseases;2023-08-03

3. Clinical presentation of 13 children with alkaptonuria;Journal of Inherited Metabolic Disease;2023-07-10

4. Identification of Potential Inhibitors for the Treatment of Alkaptonuria Using an Integrated In Silico Computational Strategy;Molecules;2023-03-14

5. Total knee arthroplasty and physical therapy for arthropathy in alkaptonuria: A 4-year follow-up case report;Frontiers in Surgery;2023-01-06