Display options
Cite
Davis K, Webster D, Smith C, et al. ALG9-CDG: New clinical case and review of the literature. Mol Genet Metab Rep. 2017;13:55-63doi: 10.1016/j.ymgmr.2017.08.004.
Davis, K., Webster, D., Smith, C., Jackson, S., Sinasac, D., Seargeant, L., Wei, X. C., Ferreira, P., Midgley, J., Foster, Y., Li, X., He, M., & Al-Hertani, W. (2017). ALG9-CDG: New clinical case and review of the literature. Molecular genetics and metabolism reports, 1355-63. https://doi.org/10.1016/j.ymgmr.2017.08.004
Davis, Kellie, et al. "ALG9-CDG: New clinical case and review of the literature." Molecular genetics and metabolism reports vol. 13 (2017): 55-63. doi: https://doi.org/10.1016/j.ymgmr.2017.08.004
Davis K, Webster D, Smith C, Jackson S, Sinasac D, Seargeant L, Wei XC, Ferreira P, Midgley J, Foster Y, Li X, He M, Al-Hertani W. ALG9-CDG: New clinical case and review of the literature. Mol Genet Metab Rep. 2017 Sep 06;13:55-63. doi: 10.1016/j.ymgmr.2017.08.004. eCollection 2017 Dec. PMID: 28932688; PMCID: PMC5596360.
Copy Download .nbib Format: NLM
Share it on

Mol Genet Metab Rep. 2017 Sep 06;13:55-63. doi: 10.1016/j.ymgmr.2017.08.004. eCollection 2017 Dec.

ALG9-CDG: New clinical case and review of the literature.

Molecular genetics and metabolism reports

Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani

Affiliations

  1. Department of Medical Genetics, Cummings School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
  2. Department of Medicine, Dalhousie University, Saint John, New Brunswick, Canada.
  3. Department of Clinical Biochemistry and Genetics, Diagnostic Services Manitoba, Department of Pediatrics, University of Manitoba, Winnipeg, Manitoba, Canada.
  4. Department of Diagnostic Radiology, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
  5. Department of Pediatrics, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
  6. Department of Medical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.

PMID: 28932688 PMCID: PMC5596360 DOI: 10.1016/j.ymgmr.2017.08.004

Abstract

Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in

Keywords: ALG9; ALG9-CDG; CDG-IL; Congenital disorders of glycosylation; Lethal skeletal dysplasia; Transferrin isoelectrofocusing type 1 pattern

References

  1. Clin Chem. 2016 Jan;62(1):48-69 - PubMed
  2. J Neurol Sci. 1979 Jul;42(2):275-81 - PubMed
  3. J Med Genet. 2016 Mar;53(3):180-9 - PubMed
  4. JIMD Rep. 2016;27:107-12 - PubMed
  5. Glycobiology. 2009 Aug;19(8):910-7 - PubMed
  6. Am J Med Genet A. 2005 Jul 15;136(2):194-7 - PubMed
  7. Am J Hum Genet. 2004 Jul;75(1):146-50 - PubMed
  8. NeuroRx. 2006 Apr;3(2):254-63 - PubMed
  9. Proc Natl Acad Sci U S A. 2012 Jul 10;109(28):11437-42 - PubMed
  10. Anal Biochem. 2013 Nov 15;442(2):178-85 - PubMed
  11. Eur J Hum Genet. 2016 Feb;24(2):198-207 - PubMed

Publication Types