Identification and Characterization of Novel Variants of Fumarylacetoacetate Hydrolase (FAH) Gene in Clinically Suspected Patients of Tyrosinemia Type 1: Tertiary Care Centre Study of North India-Reference-Cited by-同舟云学术

Identification and Characterization of Novel Variants of Fumarylacetoacetate Hydrolase (FAH) Gene in Clinically Suspected Patients of Tyrosinemia Type 1: Tertiary Care Centre Study of North India

Published:2024-06-05 Issue: Volume: Page:
ISSN:0970-1915
Container-title:Indian Journal of Clinical Biochemistry
language:en
Short-container-title:Ind J Clin Biochem

Author:

Kaur Sandeep,Bhadoriya Ravi Pratap Singh,Jain Shaveta,Lal Sadhna,Attri Savita Verma,Prasad Rajendra,Ram Sant^ORCID

Funder

DST-SERB

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s12291-024-01236-6.pdf

Reference47 articles.

1. Kitagawa T. Hepatorenal tyrosinemia. Proc Japan Acad Ser B. 2012;88(5):192–200.

2. Morrow G, Tanguay RM. Biochemical and clinical aspects of hereditary tyrosinemia type 1. In: Tanguay RM editor. Hereditary Tyrosinemia: Pathogenesis, screening and management. Springer; 2017. pp. 9–21. https://doi.org/10.1007/978-3-319-55780-9_2.

3. Van DE, Steenkamp A, Koekemoer G, Pretorius PJ. Hereditary tyrosinemia type 1 metabolites impair DNA excision repair pathways. Biochem Biophys Res Commun. 2010;401:32–6. https://doi.org/10.1016/j.bbrc.2010.09.002.

4. NORD (National Organization for Rare Disorders). Tyrosinemia Type 1 n.d. https://rarediseases.org/rare-diseases/tyrosinemia-type-1/ (accessed January 18, 2023).

5. Barone H, Bliksrud YT, Elgen IB, Szigetvari PD, Kleppe R, Ghorbani S, Hansen EV, Haavik J. Tyrosinemia Type 1 and symptoms of ADHD: biochemical mechanisms and implications for treatment and prognosis. Am J Med Genet Part B Neuropsychiatr Genet. 2020;183(2):95–105. https://doi.org/10.1002/ajmg.b.32764.