Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency

Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy

Jojanneke H.J. Huck, Nanda M. Verhoeven, Eduard A. Struys et al. · The American Journal of Human Genetics · 2004 · 151 citations · Full text

Life Sciences, Biochemistry, Pathobiology +14

Transaldolase Deficiency: Liver Cirrhosis Associated with a New Inborn Error in the Pentose Phosphate Pathway

Nanda M. Verhoeven, Jojanneke H.J. Huck, Birthe Roos et al. · The American Journal of Human Genetics · 2001 · 138 citations · Full text

Life Sciences, Biochemistry, Internal Medicine +17

Capillary gas chromatographic profiling of urinary, plasma and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification method

G. S. I. M. Jansen, Frits A.J. Muskiet, Henk Schierbeek et al. · Clinica Chimica Acta · 1986 · 136 citations

Pharmacy, Biochemistry, Chemistry +12

Prevention of hepatocarcinogenesis and increased susceptibility to acetaminophen-induced liver failure in transaldolase-deficient mice by N-acetylcysteine

Robert Hanczko, David Fernández, Edward Doherty et al. · Journal of Clinical Investigation · 2009 · 104 citations · Full text

Life Sciences, Biochemistry, Cancer Biology +17

Transaldolase deficiency: A new cause of hydrops fetalis and neonatal multi-organ disease

Vassili Valayannopoulos, Nanda M. Verhoeven, Karine Mention et al. · The Journal of Pediatrics · 2006 · 85 citations

Medicine, Obstetrics, Pediatrics +14