Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia-Reference-Cited by-同舟云学术

Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia

Published:2021-09 Issue:3 Volume:187 Page:388-395
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Pachajoa Harry¹²,Acosta Maria Amparo³,Alméciga‐Díaz Carlos J.⁴,Ariza Yoseth¹,Diaz‐Ordoñez Lorena¹,Caicedo‐Herrera Gabriela¹,Cuartas Daniel⁵,Nastasi‐Catanese Jose Antonio²,Ramírez‐Montaño Diana¹,Silva Yiseth Katherine¹,Moreno Lina⁶⁷,Satizabal Jose⁶⁷,Garcia Natalia⁸,Montoya Jorge⁹,Prada Carlos¹⁰¹¹¹²^ORCID,Porras Gloria¹³,Velasco Harvy¹⁴,Candelo Estephania¹²^ORCID

Affiliation:

1. Health Science Faculty and Congenital Abnormalities and Rare Diseases Research Center (CIACER) Universidad Icesi Colombia

2. Fundación Valle del Lili Cali Colombia

3. Health Science Department Universidad del Cauca Colombia

4. Institute for the Study of Inborn Errors of Metabolism, Faculty of Science Pontificia Universidad Javeriana Bogotá, DC Colombia

5. Public Health Department Universidad del Valle Cali Colombia

6. Congenital and Metabolic Disorders Research Group, Health Science Department Universidad del Valle Cali Colombia

7. Biomedical Science Doctorate Program: Medical Genetics Universidad del Valle Cali Colombia

8. Genetics Department Universidad de Manizales Cali Colombia

9. Genetic Department Hospital Universitario San Vicente Fundación Medellin Colombia

10. Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA

11. Department of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USA

12. Centro de Medicina Genomica y Metabolismo Fundacion Cardiovascular de Colombia Floridablanca Colombia

13. INCERHC Centro de investigación Salud Comfamiliar Comfamiliar Risaralda Pereira Colombia

14. Medical Diagnosis Tools SURA Cali Colombia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31936

Reference38 articles.

1. Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates

2. Identification of Ezetimibe and Pranlukast as Pharmacological Chaperones for the Treatment of the Rare Disease Mucopolysaccharidosis Type IVA

3. Cumulative incidence rates of the mucopolysaccharidoses in Germany

4. Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA

5. Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations

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