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Results 1 - 10 of 44 > >>
EC Number
Disease
PubMed ID
Title of Publication
Category
Confidence Level
Cerebellar Ataxia
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.
causal interaction
2
Liver Diseases
Fine specificity of autoantibodies to soluble liver antigen and liver/pancreas.
causal interaction
3
Brain Diseases
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.
causal interaction
4
Brain Diseases
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.
causal interaction
3
Hepatitis, Autoimmune
Human SepSecS or SLA/LP: selenocysteine formation and autoimmune hepatitis.
causal interaction
1
Neurodegenerative Diseases
Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions.
causal interaction
4
Hepatitis, Autoimmune
Identification of target antigen for SLA/LP autoantibodies in autoimmune hepatitis.
causal interaction
1
Microcephaly
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.
causal interaction
2
Liver Diseases
Fine specificity of autoantibodies to soluble liver antigen and liver/pancreas.
diagnostic usage
4
Liver Cirrhosis, Biliary
[Presence of SLA/LP autoantibodies in patients with primary biliary cirrhosis as a marker for secondary autoimmune hepatitis (overlap syndrome)]
diagnostic usage
4
Results 1 - 10 of 44 > >>