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British Journal of Nutrition, ISSN 0007-1145, 10/2013, Volume 110, Issue 7, pp. 1233 - 1242
Journal Article
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 10, pp. 2670 - 2679
Journal Article
Analytical Sciences, ISSN 0910-6340, 2014, Volume 30, Issue 1, pp. 111 - 117
Journal Article
Journal Article
Toxicological Sciences, ISSN 1096-6080, 09/2014, Volume 141, Issue 1, pp. 155 - 165
Journal Article
Clinical calcium, ISSN 0917-5857, 2017, Volume 27, Issue 3, p. 429
GNE myopathy is rare muscle disease which affect distal muscles. GNE gene, which encodes for a key enzyme in the sialic acid biosynthesis pathway, is mutated... 
Distal Myopathies - epidemiology | Distal Myopathies - drug therapy | Prognosis | Distal Myopathies - diagnosis | Distal Myopathies - pathology | Humans | Clinical Trials as Topic | N-Acetylneuraminic Acid - therapeutic use
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2012, Volume 7, Issue 1, p. e29873
Mutations in the key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosamine kinase, result in distal myopathy with rimmed... 
INCLUSION-BODY MYOPATHY | GENE | N-ACETYLMANNOSAMINE | RAT-KIDNEY | ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE | MULTIDISCIPLINARY SCIENCES | MUTATION | DISEASE | PODOCALYXIN | MAJOR SIALOPROTEIN | CD2-ASSOCIATED PROTEIN | Albuminuria - complications | Cystatin C - blood | Albuminuria - blood | Sialoglycoproteins - metabolism | Molecular Sequence Data | Nephrotic Syndrome - genetics | Nephrotic Syndrome - drug therapy | Lectins - metabolism | Point Mutation - genetics | Base Sequence | N-Acetylneuraminic Acid - therapeutic use | Podocytes - metabolism | Nephrotic Syndrome - prevention & control | N-Acetylneuraminic Acid - pharmacology | Biosynthetic Pathways | Nephrotic Syndrome - enzymology | Podocytes - pathology | Blotting, Western | Polysaccharides - metabolism | Podocytes - ultrastructure | Animals | Podocytes - drug effects | Staining and Labeling | Mice | Carbohydrate Epimerases - genetics | N-Acetylneuraminic Acid - administration & dosage | Proteins | Membrane lipids | Amino acids | Plant lipids | Gene mutations | Analysis | Renal function | N-Acetylglucosamine | Disease | Laboratories | Epithelial cells | Zoology | Biosynthesis | Gestation | Kinases | Transgenic animals | Rodents | Research centers | University graduates | Carbohydrates | Kidneys | Congenital diseases | Filtration | Medical treatment | Cloning | Animal sciences | Glycoprotein | Glycoproteins | Embryos | Glycan | Acids | Life span | Glycolipids | Point mutation | UDP-N-acetylglucosamine 2-epimerase | Lectins | Mutation | Vacuoles | Epimerase | Myopathy
Journal Article
Brain and nerve = Shinkei kenkyu no shinpo, ISSN 1881-6096, 09/2015, Volume 67, Issue 9, p. 1115
Distal myopathy with rimmed vacuoles or GNE myopathy, is an early adult-onset myopathy with slow progression that preferentially affects the tibialis anterior... 
Distal Myopathies - epidemiology | Distal Myopathies - drug therapy | Distal Myopathies - genetics | Vacuoles - genetics | Animals | Distal Myopathies - diagnosis | Humans | Vacuoles - metabolism | Treatment Outcome | Muscle, Skeletal - pathology | N-Acetylneuraminic Acid - therapeutic use | Disease Models, Animal
Journal Article
Brain and nerve = Shinkei kenkyu no shinpo, ISSN 1881-6096, 03/2012, Volume 64, Issue 3, p. 255
Distal myopathy with rimmed vacuoles (DMRV), also called hereditary inclusion body myopathy, is an autosomal recessive disease that typically affects tibialis... 
Distal Myopathies - drug therapy | Distal Myopathies - genetics | Orphan Drug Production | Animals | Humans | Translational Medical Research | Adolescent | Adult | Female | Male | Mice | N-Acetylneuraminic Acid - therapeutic use
Journal Article