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Disorder of sialic acid metabolism

MedGen UID:
575253
•Concept ID:
C0342851
•
Disease or Syndrome
Synonym: disorder of sialic acid metabolism
SNOMED CT: Disorder of sialic acid metabolism (238050009)
 
Monarch Initiative: MONDO:0017736
Orphanet: ORPHA309319

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisorder of sialic acid metabolism
  • Disorder of sialic acid metabolism
Follow this link to review classifications for Disorder of sialic acid metabolism in Orphanet.

Professional guidelines

PubMed

Sialylated Immunoglobulins for the Treatment of Immuno-Inflammatory Diseases.
Markina YV, Gerasimova EV, Markin AM, Glanz VY, Wu WK, Sobenin IA, Orekhov AN
Int J Mol Sci 2020 Jul 31;21(15) doi: 10.3390/ijms21155472. PMID: 32751832Free PMC Article
Evaluation of CD33 as a genetic risk factor for Alzheimer's disease.
Estus S, Shaw BC, Devanney N, Katsumata Y, Press EE, Fardo DW
Acta Neuropathol 2019 Aug;138(2):187-199. Epub 2019 Apr 4 doi: 10.1007/s00401-019-02000-4. PMID: 30949760Free PMC Article
Epratuzumab for the treatment of systemic lupus erythematosus.
Geh D, Gordon C
Expert Rev Clin Immunol 2018 Apr;14(4):245-258. Epub 2018 Mar 20 doi: 10.1080/1744666X.2018.1450141. PMID: 29542345

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