Novel Heterozygous Mutations in TALDO1 Gene Causing Transaldolase Deficiency and Early Infantile Liver FailureBALASUBRAMANIAM, S; WAMELINK, Mirjam M. C; NGU, Lock-Hock et al.Journal of pediatric gastroenterology and nutrition. 2011, Vol 52, Num 1, pp 113-116, issn 0277-2116, 4 p.Article

Retrospective detection of transaldolase deficiency in amniotic fluid : implications for prenatal diagnosisWAMELINK, Mirjam M. C; STRUYS, Eduard A; VALAYANNOPOULOS, Vassili et al.Prenatal diagnosis. 2008, Vol 28, Num 5, pp 460-462, issn 0197-3851, 3 p.Article

Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS : application to two new inherited defects of metabolismWAMELINK, Mirjam M. C; STRUYS, Eduard A; HUCK, Jojanneke H. J et al.Journal of chromatography. B. 2005, Vol 823, Num 1, pp 18-25, issn 1570-0232, 8 p.Conference Paper

Nephrological abnormalities in patients with transaldolase deficiencyLOEFFEN, Yvette G. T; BIEBUYCK, Nathalie; WAMELINK, Mirjam M. C et al.Nephrology, dialysis, transplantation (Print). 2012, Vol 27, Num 8, pp 3224-3227, issn 0931-0509, 4 p.Article

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotypeEYAID, Wafaa; AL HARBI, Talal; ANAZI, Shamsa et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 6, pp 997-1004, issn 0141-8955, 8 p.Article