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Summary
MALONIC ACIDURIA
614245
OMIM = Online Medalian Inheritance of Men
16q24.3
symptoms
laboratory finding
Malonic acid0.000.00 increasedurineno data
Methylmalonic acid0.000.00 increasedurineno data
Literature
Giuliano Fet al.Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 geneHum Mutat25199-1002005
Lin CHet al.Wolfram (DIDMOAD) syndrome: report of two patientsJ Pediatr Endocrinol Metab17101461-14642004
Tanner SMet al.Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor geneProc Natl Acad Sci U S A002005