HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

AuthorsJ Jaeken, G Matthijs, J M Saudubray, C Dionisi-Vici, E Bertini, P de Lonlay, H Henri, H Carchon, E Schollen, E Van Schaftingen
JournalAmerican journal of human genetics (Am J Hum Genet) Vol. 62 Issue 6 Pg. 1535-9 (Jun 1998) ISSN: 0002-9297 [Print] United States
PMID9585601 (Publication Type: Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • Mannose-6-Phosphate Isomerase
Topics
  • Amino Acid Sequence
  • Congenital Disorders of Glycosylation (genetics, physiopathology)
  • Humans
  • Intestinal Diseases (enzymology)
  • Liver Diseases (enzymology)
  • Mannose-6-Phosphate Isomerase (deficiency)
  • Molecular Sequence Data
  • Syndrome

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: