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Summary
GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE
305920
OMIM = Online Medalian Inheritance of Men
very rare

symptoms
coarse facial features
hypotonia
nephrotic syndrome
onset, childhood
optic atrophy
proteinuria
renal dysfunction, renal defects
seizures
laboratory finding
Literature
Kitt DQArterial Tortuosity Syndrome reveals function of dehydroascorbic acid in collagen and elastin synthesis: Implications for skin careMed Hypotheses8708-92016