Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum-Reference-Cited by-同舟云学术

Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum

Published:2015 Issue: Volume: Page:31-36
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Banne Ehud,Meiner Vardiella,Shaag Avraham,Katz-Brull Rachel,Gamliel Ayelet,Korman Stanley,Cederboim Smadar Horowitz,Duvdevani Morasha Plesser,Frumkin Ayala,Zilkha Amir,Kapuller Vadim,Arbell Dan,Cohen Elite,Eventov-Friedman Smadar

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2015_474

Reference21 articles.

1. Al-Kouatly HB, Chasen ST, Streltzoff J et al (2001) The clinical significance of fetal echogenic bowel. Am J Obstet Gynecol 185:1035–1038

2. Al-Shamsi AM, Ben-Salem S, Hertecant J et al (2015) Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability. Eur J Pediatr 174:661–668

3. Balasubramaniam S, Wamelink MM, Ngu LH et al (2011) Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure. J Pediatr Gastroenterol Nutr 52:113–116

4. Engelke UF, Zijlstra FS, Mochel F et al (2010) Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency. Biochim Biophys Acta 1802:1028–1035

5. Eyaid W, Al Harbi T, Anazi S et al (2013) Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J Inherit Metab Dis 46:997–1004

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