A new case of ALG8 deficiency (CDG Ih)

Journal of Inherited Metabolic Disease

Volumn 32, Issue SUPPL. 1, 2009, Pages

  Vesela, K ^a   Honzik, T ^a   Hansikova, H ^a   Haeuptle, M A ^b   Semberova, J ^c   Stranak, Z ^c   Hennet, T ^b   Zeman, J ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c INSTITUTE FOR THE CARE OF MOTHER AND CHILD   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84897580419     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1203-z     Document Type: Article

References (8)

1. Chantret I, Dancourt J, Dupre T et al (2003) A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. J Biol Chem 278: 9962-9971 (Pubitemid 36800501)
2. Charlwood J, Clayton P, Johnson A et al (1997) A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity. J Inherit Metab Dis 20: 817-826
3. Eklund EA, Sun L, Westphal V et al (2005) Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepatointestinal phenotype and evolving central nervous system pathology. J Pediatr 147: 847-850 (Pubitemid 41774846)
4. Haeuptle MA, Pujol FM, Neupert C et al (2008) Human RFT1 deficiency leads to a disorder of N-linked glycosylation. Am J Hum Genet 82: 600-606
5. Jaeken J, Matthijs G (2007) Congenital disorders of glycosylation: a rapidly expanding disease family. Annu Rev Genomics Hum Genet 8: 261-278
6. Schollen E, Frank CG, Keldermans L et al (2004) Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG Ih) (ALG8 deficiency). J Med Genet 41: 550-556 (Pubitemid 38932117)
7. van Eijk HG, van Noort WL (1992) The analysis of human serum transferrins with the PhastSystem: quantitation of microheterogeneity. Electrophoresis 13: 354-358
8. Van Schaftingen E, Jaeken J (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 377: 318-320 (Pubitemid 26027149)