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

This publication has 23 references indexed in Scilit:

• A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate
  Annals of Neurology, 2002
• Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
  Annals of Neurology, 2001
• Transaldolase Deficiency: Liver Cirrhosis Associated with a New Inborn Error in the Pentose Phosphate Pathway
  American Journal of Human Genetics, 2001
• Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts
  American Journal of Human Genetics, 2001
• Disorders of the Cerebral White Matter in Children. The Spectrum of Lesions
  Neuropediatrics, 1996
• Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children
  Annals of Neurology, 1995
• Childhood ataxia with diffuse central nervous system hypomyelination
  Annals of Neurology, 1994
• Diffuse White Matter Disease in Three Children: An Encephalopathy with Unique Features on Magnetic Resonance Imaging and Proton Magnetic Resonance Spectroscopy
  Neuropediatrics, 1993
• Polyol pathway activity in nervous tissues of diabetic and galactose-fed rats: Effect of dietary galactose withdrawal or tolrestat intervention therapy
  Journal of Diabetic Complications, 1991
• Capillary gas chromatographic profiling of urinary, plasma and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification method
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1986