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Feb 27, 2007 ... Sialuria is characterized by variable and transient signs and symptoms, especially in infancy. These include slightly flat and coarse facies ...
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=26... - 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 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/cgi/content/abstract/266/12/7456 - Similar
Sialuria, a disorder of sialic acid (NeuAc) metabolism characterized by increased free NeuAc in the cytoplasm of cells, is due to failure of CMP-Neu5Ac to ...
linkinghub.elsevier.com/retrieve/pii/S1096719299928524 - Similar
Sialuria, French type symptoms, causes, diagnosis, and treatment information for Sialuria, French type (Sialuria, French type) with alternative diagnoses, ...
www.wrongdiagnosis.com/medical/sialuria_french_type.h... - Similar
Sialuria, Finnish type information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, ...
www.wrongdiagnosis.com/s/sialuria_finnish_type... - Similar
4 How do people inherit sialuria? 5 Where can I find information about treatment for sialuria? ... 8 What if I still have specific questions about sialuria? ...
wiki.medpedia.com/Sialuria - 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
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