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Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.
Jaeken J, Artigas J, Barone R, Fiumara A, de Koning TJ, Poll-The BT, de Rijk-van Andel JF, Hoffmann GF, Assmann B, Mayatepek E, Pineda M, Vilaseca MA, Saudubray JM, Schlüter B, Wevers R, Van Schaftingen E. Jaeken J, et al. Among authors: barone r. J Inherit Metab Dis. 1997 Jul;20(3):447-9. doi: 10.1023/a:1005331523477. J Inherit Metab Dis. 1997. PMID: 9266378 Clinical Trial. No abstract available.
Familial Dandy-Walker variant in CDG syndrome.
Fiumara A, Barone R, Nigro F, Sorge G, Pavone L. Fiumara A, et al. Among authors: barone r. Am J Med Genet. 1996 May 17;63(2):412-3. doi: 10.1002/ajmg.1320630204. Am J Med Genet. 1996. PMID: 8725797 No abstract available.
Carbohydrate deficient glycoprotein (CDG) syndrome type I.
Jaeken J, Matthijs G, Barone R, Carchon H. Jaeken J, et al. Among authors: barone r. J Med Genet. 1997 Jan;34(1):73-6. doi: 10.1136/jmg.34.1.73. J Med Genet. 1997. PMID: 9032653 Free PMC article. No abstract available.
488 results