Tubulopathy and hepatomegaly in a 2-year-old boy: Answers

被引:2
作者
Ustkoyuncu, Pembe Soylu [1 ]
Bastug, Funda [2 ]
Kiraz, Aslihan [3 ]
Erdogan, Murat [3 ]
Eren, Esra [4 ]
Yildiz, Gokce [5 ]
机构
[1] Kayseri City Hosp, Pediat Nutr & Metab Clin, Kayseri, Turkey
[2] Kayseri City Hosp, Pediat Nephrol Clin, Kayseri, Turkey
[3] Kayseri City Hosp, Genet Clin, Kayseri, Turkey
[4] Kayseri City Hosp, Pediat Gastroenterol Hepatol & Nutr Clin, Kayseri, Turkey
[5] Kayseri City Hosp, Pediat Clin, Kayseri, Turkey
关键词
Child; Fasting hypoglycemia; Postprandial hyperglycemia; Hepatomegaly; Aminoaciduria; Fanconi-Bickel syndrome; SLC2A2; mutation; FANCONI-BICKEL SYNDROME; MUTATION; GLUT2;
D O I
10.1007/s00467-021-04933-z
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
[No abstract available]
引用
收藏
页码:2083 / 2084
页数:2
相关论文
共 6 条
[1]   An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation [J].
Dayal, Devi ;
Dekate, Parag ;
Sharda, Sheetal ;
Das, Ashim ;
Attri, Savita .
JOURNAL OF PEDIATRIC GENETICS, 2013, 2 (02) :109-112
[2]  
FANCONI G., 1949, HELVETICA PAEDIATR ACTA, V4, P359
[3]  
Fridman E, 2015, JIMD REP, V15, P95, DOI 10.1007/8904_2014_303
[4]   Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype [J].
Gruenert, Sarah Catharina ;
Schwab, Karl Otfried ;
Pohl, Martin ;
Sass, Joern Oliver ;
Santer, Rene .
MOLECULAR GENETICS AND METABOLISM, 2012, 105 (03) :433-437
[5]   The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome [J].
Santer, R ;
Groth, S ;
Kinner, M ;
Dombrowski, A ;
Berry, GT ;
Brodehl, J ;
Leonard, JV ;
Moses, S ;
Norgren, S ;
Skovby, F ;
Schneppenheim, R ;
Steinmann, B ;
Schaub, J .
HUMAN GENETICS, 2002, 110 (01) :21-29
[6]   A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis [J].
Tastemel-Ozturk, Tugba ;
Bilginer-Gurbuz, Berrak ;
Teksam, Ozlem ;
Sivri, Serap .
TURKISH JOURNAL OF PEDIATRICS, 2017, 59 (06) :693-695