共 26 条
[1]
Fanconi G(1949)Chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogen storage and cystine disease Helv Paediatr Acta 4 359-396
[2]
Bickel H(2012)Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype Mol Genet Metab 105 433-437
[3]
Grünert SC(2015)Phenotypic variability in patients with Fanconi-Bickel syndrome with identical mutations JIMD Rep 15 95-104
[4]
Schwab KO(2002)The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome Hum Genet 110 21-29
[5]
Pohl M(2017)A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis Turk J Pediatr 59 693-695
[6]
Sass JO(2013)An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation J Pediatr Genet 2 109-112
[7]
Santer R(undefined)undefined undefined undefined undefined-undefined
[8]
Fridman E(undefined)undefined undefined undefined undefined-undefined
[9]
Zeharia A(undefined)undefined undefined undefined undefined-undefined
[10]
Markus-Eidlitz T(undefined)undefined undefined undefined undefined-undefined