Publication | Open Access
Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy
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Citations
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References
2004
Year
Slowly Progressive LeukoencephalopathyBiochemistryGeneticsPathogenesisInherited Metabolic DiseasePathologyRibose-5-phosphate Isomerase DeficiencyNew Inborn ErrorMetabolismMedicineInborn Error Of Immunity
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Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts Peter A. J. Leegwater, Bao Qiang Yuan, J. Van der Steen, The American Journal of Human Genetics Neurobiology Of DiseaseNeurological DisorderMedicinePathogenesisPutative Membrane Protein | 2001 | 264 |
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2002 | 195 | |
1993 | 179 |
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