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A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene.

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Bibliographic Details
Title: A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene.
Authors: Tranel ES; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America., McGowan B; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America., Drackley A; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America., Epstein LG; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America., Rao VK; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America., Kuntz NL; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America., Schwaede AN; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America.
Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2024 Jan 15; Vol. 38, pp. 101051. Date of Electronic Publication: 2024 Jan 15 (Print Publication: 2024).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2214-4269
DOI:10.1016/j.ymgmr.2024.101051