Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure.
Department of Genetics, Pediatric Institute, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia. saras329@hotmail.com
S
S
Balasubramaniam
Mirjam M C
MM
Wamelink
Lock-Hock
LH
Ngu
Arni
A
Talib
Gajja S
GS
Salomons
Cornelis
C
Jakobs
Wee-Teik
WT
Keng
D005796:Genes; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D017114:Liver Failure, Acute / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009005:Monosaccharides / Q000652:urine; D020125:Mutation, Missense; D010427:Pentose Phosphate Pathway / Q000235:genetics; D011108:Polymers / Q000378:metabolism; D014153:Transaldolase / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism
D009005:Monosaccharides; D011108:Polymers; C024617:polyol; D014153:Transaldolase