Sialuria - Genetics Home Reference
Young children with sialuria tend to have frequent upper respiratory infections ... Gene Review: Sialuria. MedlinePlus Encyclopedia: Hepatosplenomegaly (image) ...
ghr.nlm.nih.gov

Sialuria -- GeneReviews -- NCBI Bookshelf
Sialuria is inherited in an autosomal dominant manner. ... Phenotypes distinct from sialuria and caused by mutations in GNE are the ...
www.ncbi.nlm.nih.gov

Sialuria, French type Symptoms, Diagnosis, Treatments and ...
Sialuria, French type information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
www.wrongdiagnosis.com

Dominant Inheritance of Sialuria, an Inborn Error of Feedback ...
We report a new patient with sialuria ... "French type" sialuria (MIM 269921) is a rare human ... results indicate that the prevalence of sialuria may be ...
www.sciencedirect.com

Sialuria, Finnish type Symptoms, Diagnosis, Treatments and ...
Sialuria, Finnish type information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
www.wrongdiagnosis.com

Mutations in the Human UDP-N-Acetylglucosamine 2-Epimerase ...
Sialuria is a rare inborn error of metabolism character ... ease, sialuria (MIM 269921), free sialic ... from sialuria patients, we previously demonstrated that ...
www.sciencedirect.com

Sialic acid metabolism in sialuria fibroblasts.
Sialuria is a rare inborn error of metabolism caused by excessive synthesis of ... The inheritance pattern of sialuria has not been determined. ...
www.ncbi.nlm.nih.gov

Allele-specific silencing of the dominant disease allele in ...
... silencing of the dominant disease allele in sialuria by RNA interference ... Sialuria is a dominant disorder caused by missense mutations in the allosteric ...
www.fasebj.org

Sialuria, French type
A US Department of Health and Human Service project providing information on genetic and rare diseases. A comprehensive body of resources on Sialuria, French type
rarediseases.info.nih.gov

genome.gov | Huizing Lab
A description of Marjan Huizing's lab research. ... Sialuria appears to be due to a single mutation that causes a change in the ...
www.genome.gov