Research output per year
Research output per year
Personal profile
Clinical interests
Rare genetic conditions.
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Dive into the research topics where Hoanh Nguyen is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG)
Starosta, R. T., Lee, A. J., Toolan, E. R., He, M., Wongkittichote, P., Daniel, E. J. P., Radenkovic, S., Budhraja, R., Pandey, A., Sharma, J., Morava, E., Nguyen, H. & Dickson, P. I., Jun 2024, In: Molecular genetics and metabolism. 142, 2, 108488.Research output: Contribution to journal › Review article › peer-review
3 Scopus citations -
S-adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review
Lee, A., Knox, R., Reynolds, M., McRoy, E. & Nguyen, H., Nov 2023, In: JIMD Reports. 64, 6, p. 417-423 7 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Treatment and outcomes of symptomatic hyperammonemia following asparaginase therapy in children with acute lymphoblastic leukemia
Lee, A., Eldem, I., Altintas, B., Nguyen, H., Willis, D., Langley, R. & Shinawi, M., Jul 2023, In: Molecular genetics and metabolism. 139, 3, 107627.Research output: Contribution to journal › Article › peer-review
5 Scopus citations -
Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter
Wongkittichote, P., Mar, S. S., McKinstry, R. C. & Nguyen, H., Jun 17 2022, In: Frontiers in Genetics. 13, 893057.Research output: Contribution to journal › Article › peer-review
Open Access -
Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations
Starosta, R. T., Hou, Y. C. C., Leestma, K., Singh, P., Viehl, L., Manwaring, L., Granadillo, J. L., Schroeder, M. C., Colombo, J. N., Whitehead, H., Dickson, P. I., Hulbert, M. L. & Nguyen, H. T., Sep 28 2022, In: Frontiers in Pediatrics. 10, 944178.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations