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searching for Infantile neuroaxonal dystrophy 5 found (20 total)

alternate case: infantile neuroaxonal dystrophy

Α-N-acetylgalactosaminidase (375 words) [view diff] exact match in snippet view article find links to article

lesion in the α-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy". The Journal of Clinical Investigation. 86 (5): 1752–6. doi:10

NAGA (gene) (895 words) [view diff] exact match in snippet view article

in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy". J. Clin. Invest. 86 (5): 1752–6. doi:10.1172/JCI114901. PMC 296929

Ohad Birk (3,330 words) [view diff] exact match in snippet view article find links to article

Microphthalmia / anophthalmia (non-syndromic) caused by CHX10 mutation Infantile neuroaxonal dystrophy: demonstrating that it is a storage disease caused by a mutation

Isotope effect on lipid peroxidation (1,733 words) [view diff] exact match in snippet view article find links to article

Atwal, P.; Milner, P.; Shchepinov, M. S. (2020). "Treatment of infantile neuroaxonal dystrophy with RT001: A di‐deuterated ethyl ester of linoleic acid: Report

List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article

605637; MYH2 Incontinentia pigmenti, type II; 308300; IKBKG Infantile neuroaxonal dystrophy 1; 256600; PLA2G6 Inflammatory bowel disease 25; 612567; CRFB4