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

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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
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  Data: A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene.
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  Data: <searchLink fieldCode="AU" term="%22Tranel+ES%22">Tranel ES</searchLink>; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America.<br /><searchLink fieldCode="AU" term="%22McGowan+B%22">McGowan B</searchLink>; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America.<br /><searchLink fieldCode="AU" term="%22Drackley+A%22">Drackley A</searchLink>; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America.<br /><searchLink fieldCode="AU" term="%22Epstein+LG%22">Epstein LG</searchLink>; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America.<br /><searchLink fieldCode="AU" term="%22Rao+VK%22">Rao VK</searchLink>; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America.<br /><searchLink fieldCode="AU" term="%22Kuntz+NL%22">Kuntz NL</searchLink>; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America.<br /><searchLink fieldCode="AU" term="%22Schwaede+AN%22">Schwaede AN</searchLink>; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America.
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  Data: <searchLink fieldCode="JN" term="%22101624422%22">Molecular genetics and metabolism reports</searchLink> [Mol Genet Metab Rep] 2024 Jan 15; Vol. 38, pp. 101051. <i>Date of Electronic Publication: </i>2024 Jan 15 (<i>Print Publication: </i>2024).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Inc%22">Elsevier Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101624422 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2214-4269 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222144269%22">22144269 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab Rep <i>Subsets: </i>PubMed not MEDLINE
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      – Type: doi
        Value: 10.1016/j.ymgmr.2024.101051
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        Text: English
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      – TitleFull: A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene.
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              Text: 2024 Jan 15
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