Riboflavin transporter deficiency unmasked by dietary changes

被引：0
|
作者：
Bosch, Annet [1 ]
Jaeger, Bregje [2 ]
Langeveld, Mirjam [3 ]
Brunkhorst, Robert [4 ]
Disterlmaier, Felix [5 ]
Wolf, Nicole [2 ]
机构：
[1] Emma Childrens Hosp, Amsterdam UMC, Dept Pediat Metab Dis, Amsterdam, Netherlands
[2] Amsterdam UMC, Dept Pediat Neurol, Amsterdam, Netherlands
[3] Amsterdam UMC, Dept Endocrinol & Metab, Amsterdam, Netherlands
[4] Rhein Westfal TH Aachen, Dept Neurol, Med Ctr, Aachen, Germany
[5] Heinrich Heine Univ Dusseldorf, Univ Childrens Hosp, Dept Pediat, Dusseldorf, Germany
来源：
MOLECULAR GENETICS AND METABOLISM | 2024年 / 141卷 / 04期
关键词：
D O I：
10.1016/j.ymgme.2024.108302
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
127
引用
收藏
页数：2
相关论文
共 50 条
  • [31] RIBOFLAVIN TRANSPORTER DEFICIENCY: A RARE, TREATABLE DISORDER THAT HAS POTENTIAL TO BE DETECTED ON THE NEWBORN SCREEN
    Feitosa, Daniela
    Fox, Charlene
    Weiss-Burns, Jody
    Galvin-Parton, Patricia
    MOLECULAR GENETICS AND METABOLISM, 2018, 123 (03) : 230 - 231
  • [32] A riboflavin transporter deficiency presenting as pure red cell aplasia: a pediatric case report
    Cheng, Jingying
    Yao, Jiafeng
    Zhao, Shasha
    Fu, Lingling
    Zhang, Liqiang
    Jiang, Jin
    FRONTIERS IN PEDIATRICS, 2024, 12
  • [33] Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons
    Chiara Marioli
    Maurizio Muzzi
    Fiorella Colasuonno
    Cristian Fiorucci
    Nicolò Cicolani
    Stefania Petrini
    Enrico Bertini
    Marco Tartaglia
    Claudia Compagnucci
    Sandra Moreno
    Cell Death Discovery, 10
  • [34] Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency
    Pillai, Nishitha R.
    Amin, Hitha
    Gijavanekar, Charul
    Liu, Ning
    Issaq, Niveen
    Broniowska, Katarzyna A.
    Bertuch, Alison A.
    Sutton, V. Reid
    Elsea, Sarah H.
    Scaglia, Fernando
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (11) : 2781 - 2787
  • [35] Riboflavin transporter is finally identified
    Moriyama, Yoshinori
    JOURNAL OF BIOCHEMISTRY, 2011, 150 (04): : 341 - 343
  • [36] Production of riboflavin deficiency with phenazine analogues of riboflavin
    Woolley, DW
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1944, 154 (01) : 31 - 37
  • [37] ENZYMIC CHANGES OF FETAL AND PLACENTAL TISSUES OF RAT IN TERATOGENIC RIBOFLAVIN DEFICIENCY
    POTIERDE.G
    DESMETTR.S
    MACQUART.MR
    TERROINE, T
    JOURNAL OF EMBRYOLOGY AND EXPERIMENTAL MORPHOLOGY, 1974, 31 (JAN): : 183 - 198
  • [38] CATARACTS AND RIBOFLAVIN DEFICIENCY
    SKALKA, HW
    PRCHAL, JT
    METABOLIC AND PEDIATRIC OPHTHALMOLOGY, 1980, 4 (02) : 103 - 104
  • [39] RIBOFLAVIN DEFICIENCY IN THE LAMB
    LUECKE, RW
    CULIK, R
    THORP, F
    BLAKESLEE, LH
    NELSON, RH
    JOURNAL OF ANIMAL SCIENCE, 1950, 9 (03) : 420 - 425
  • [40] CATARACTS AND RIBOFLAVIN DEFICIENCY
    SKALKA, HW
    PRCHAL, JT
    AMERICAN JOURNAL OF CLINICAL NUTRITION, 1981, 34 (05): : 861 - 863
12345