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Riboflavin Transporter 1 Deficiency Caused by a Homozygous Single Exonal Deletion of SLC52A1
Urim Kang, Da Hae Yang, Sang Ook Nam, Yun-jin Lee, Gyu Min Yeon
Ann Child Neurol. 2020;28(4):160-163.   Published online September 4, 2020

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Riboflavin Transporter 1 Deficiency Caused by a Homozygous Single Exonal Deletion of SLC52A1
Annals of Child Neurology. 2020;28(4):160-163   Crossref logo
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Identification and characterization of 5′-flanking region of the human riboflavin transporter 1 gene (SLC52A1)
Gene. 2014;553(1):49-56   Crossref logo
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Severe FX deficiency caused by a homozygous double deletion involvingF10andPROZgenes
Haemophilia. 2013;19(6):e361-e364   Crossref logo
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Severe fetal ischaemic brain injury caused by homozygous protein C deficiency
Prenatal Diagnosis. 2013;34(2):192-194   Crossref logo
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Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency
American Journal of Medical Genetics Part A. 2017;176(2):399-403   Crossref logo
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Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene
Human Genetics. 1998;103(4):415-418   Crossref logo
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Reconstitution in Proteoliposomes of the Recombinant Human Riboflavin Transporter 2 (SLC52A2) Overexpressed in E. coli
International Journal of Molecular Sciences. 2019;20(18):4416   Crossref logo

Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2
IUBMB Life. 2021;74(7):618-628   Crossref logo
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Riboflavin transporter deficiency
Neuromuscular Disorders. 2017;27:S206   Crossref logo
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Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B
Human Mutation. 2010;32(1):E1976-E1984   Crossref logo
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