Annals of Child Neurology

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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
DOI: https://doi.org/10.26815/acn.2020.00136

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

Annals of Child Neurology. 2020;28(4):160-163

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Identification and characterization of 5′-flanking region of the human riboflavin transporter 1 gene (SLC52A1)

Subrata Sabui, Abhisek Ghosal, Hamid M. Said

Gene. 2014;553(1):49-56

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Severe FX deficiency caused by a homozygous double deletion involvingF10andPROZgenes

A. D. Laurie, J.-A. Bell

Haemophilia. 2013;19(6):e361-e364

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Severe fetal ischaemic brain injury caused by homozygous protein C deficiency

C. Stutterd, H. Savoia, A. M. Fink, Z. Stark

Prenatal Diagnosis. 2013;34(2):192-194

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Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency

Graeme A. M. Nimmo, Resham Ejaz, Dawn Cordeiro, Peter Kannu, Saadet Mercimek‐Andrews

American Journal of Medical Genetics Part A. 2017;176(2):399-403

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Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene

Naokazu Inoue, Toshiyuki Saito, Riako Masuda, Yoshio Suzuki, Michiko Ohtomi, H. Sakiyama

Human Genetics. 1998;103(4):415-418

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Reconstitution in Proteoliposomes of the Recombinant Human Riboflavin Transporter 2 (SLC52A2) Overexpressed in E. coli

Lara Console, Maria Tolomeo, Matilde Colella, Maria Barile, Cesare Indiveri

International Journal of Molecular Sciences. 2019;20(18):4416

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Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2

Lara Console, Maria Tolomeo, Jessica Cosco, Keith Massey, Maria Barile, Cesare Indiveri

IUBMB Life. 2021;74(7):618-628

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Riboflavin transporter deficiency

E. Serdaroğlu, B. Konuşkan, G. Haliloğlu, M. Alikaşifoğlu, H. Topaloğlu

Neuromuscular Disorders. 2017;27:S206

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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

Gladys Ho, Atsushi Yonezawa, Satohiro Masuda, Ken-ichi Inui, Keow G. Sim, Kevin Carpenter, Rikke K.J. Olsen, John J. Mitchell, William J. Rhead, Gregory Peters, John Christodoulou

Human Mutation. 2010;32(1):E1976-E1984

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