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Feb 27, 2007 ... Phenotypes distinct from sialuria and caused by mutations in GNE are the autosomal recessive GNE-related myopathies, inclusion body myopathy ...
www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part... - Similar
MIM #269921 · Text · References · Contributors · Creation Date · Edit History · Clinical Synopsis · Gene map · Entrez Gene · Nomenclature ...
www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269921 - Similar
Sialuria is a rare disorder that has variable effects on development. Affected infants are often born with a yellow tint to the skin and the whites of the ...
ghr.nlm.nih.gov/condition=sialuria - Similar
Sialuria defined on the Free Online Medical Dictionary. Medical terminology definitions including drugs, abbreviations, equipment, devices, and more from ...
www.online-medical-dictionary.org/Sialuria.asp?q=Sial... - Similar
Sialuria in a Portuguese Girl: Clinical, Biochemical, and Molecular ... Sialuria , a disorder of sialic acid (NeuAc) metabolism characterized by increased ...
linkinghub.elsevier.com/retrieve/pii/S1096719299928524 - Similar
Sialuria is a rare inborn error of metabolism caused by excessive synthesis of sialic acid (N-acetylneuraminic acid, NeuAc). Fibroblasts cultured from the ...
www.jbc.org/content/266/12/7456.abstract - Similar
Sialuria, Finnish type information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, ...
www.wrongdiagnosis.com/s/sialuria_finnish_type/intro.... - Similar
A case of sialuria is described in a girl who presented in the neonatal ... disorder has been termed sialuria. We now report a second case with features ...
www.springerlink.com/index/R2150Q312V0RW274.pdf - Similar
Mutations in the Human UDP-N-Acetylglucosamine 2-Epimerase Gene Define the Disease Sialuria and the Allosteric Site of the Enzyme ...
www.cell.com/AJHG/abstract/S0002-9297(07)61052-0 - Similar
Sialuria is a dominant disorder caused by missense mutations in the allosteric site of GNE, coding for the rate-limiting enzyme of sialic acid biosynthesis, ...
www.fasebj.org/cgi/content/abstract/22/11/3846?ck=nck - Similar
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