Metadata | |
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ID | DOID:0050723 |
Name | PSAT deficiency |
Definition | A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/, http://www.omim.org/entry/610992?search=610992&highlight=610992, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 |
Xrefs | |
Synonyms |
Phosphoserine aminotransferase deficiency [EXACT] |
Parent Relationships |
is_a serine deficiency |