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Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.
The present article describes the first patient with a deficiency of ribose-5-phosphate isomerase (RPI) (Enzyme Commission number 5.3.1.6) who presented with leukoencephalopathy and peripheralExpand
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Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.
This article describes the first patient with a deficiency of transaldolase (TALDO1 [E.C.2.2.1.2]). Clinically, the patient presented with liver cirrhosis and hepatosplenomegaly during early infancy.Expand
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A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency
SummaryThis paper describes the second patient found to be affected with a deficiency of transaldolase (TALDO1; EC 2.2.1.2). Clinically, this patient presented in the neonatal period with severalExpand
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Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency.
BACKGROUND Recently, several patients with abnormal polyol profiles in body fluids have been reported, but the origins of these polyols are unknown. We hypothesized that they are derived from sugarExpand
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Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism.
To more completely elucidate the pathways of sugar metabolism in human, we have evaluated the formation and degradation of pentitols in human fibroblasts and erythrocytes. Cultured human fibroblastsExpand
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Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism.
We describe a liquid chromatography tandem mass spectrometry (LC-MS/MS) method to quantify pentose phosphate pathway intermediates (triose-3-phosphates, tetrose-4-phosphate, pentose-5-phosphate,Expand
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Clinical presentations of patients with polyol abnormalities.
Since our description of a patient with leukoencephalopathy and highly elevated polyols in the brain and body fluids, we started screening for polyol abnormalities in patients highly suspected of aExpand
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