A novel GK Ala469Val variant resulting in glycerol kinase deficiency with concurrent hepatoblastoma: A case report-Reference-Cited by-同舟云学术

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A novel GK Ala469Val variant resulting in glycerol kinase deficiency with concurrent hepatoblastoma: A case report

Published:2024-03 Issue: Volume:38 Page:101058
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Filingeri Domenic,Mackey Sarah,Soller Haley,Guarneri-Tragone Alissa,Cooper James,Escobar Oscar,Bedoyan Jirair K.

Publisher

Elsevier BV

Reference21 articles.

1. Glycerol kinase deficiency: evidence for complexity in a single gene disorder;Dipple;Hum. Genet.,2001

2. Complex glycerol kinase deficiency: an X-linked disorder associated with adrenal hypoplasia congenita;Sehgal;Indian J. Pediatr.,2005

3. Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays;Stanczak;Hum. Mutat.,2007

4. The genetic changes of Hepatoblastoma;Chen;Front. Oncol.,2021

5. Embryonal hepatoblastoma with co-existent glycogen storage disease in a seven-month-old child;Shirazi;J. Clin. Diagn. Res.,2016

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