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Volumn 12, Issue 2, 2012, Pages 96-100

Congenital disorder of glycosylation a case presentation

(3) Snow, Timothy M a Woods, Christopher W a Woods, Amanda G b

a North Carolina Baptist Hospital (United States)

b The Women's Hospital of Greensboro (United States)

Author keywords

Carbohydrate deficient glycoprotein syndromes; CDG; Congenital disorders of glycosylation; Disialotransferrin developmental deficiency; Jaeken's disease

Indexed keywords

ARTICLE; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION; FATALITY; HUMAN; NEWBORN;

CONGENITAL DISORDERS OF GLYCOSYLATION; FATAL OUTCOME; HUMANS; INFANT, NEWBORN;

EID: 84861086767 PISSN: 15360903 EISSN: None Source Type: Journal
DOI: 10.1097/ANC.0b013e318241bc1b Document Type: Article

Times cited : (9)

References (9)

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- Congenital disorders of glycosylation
- DOI 10.1146/annurev.genom.2.1.129
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- Jaeken, J.¹ Matthijs, G.²

2
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- Kliegman: Nelson Textbook of Pediatrics Ed. Kliegman. Philadelphia: Saunders
- McGovern MM, Desnick RJ. Disorders of Glycoprotein Degradation and Structure. Kliegman: Nelson Textbook of Pediatrics. Ed. Kliegman. Philadelphia: Saunders; 2007?
- (2007) Disorders of Glycoprotein Degradation and Structure
- McGovern, M.M.¹ Desnick, R.J.²

3
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- Gene Reviews Seattle, WA: University of Washington Seattle August 1, 2009. Accessed February 11, 2011
- Sparks S, Donna K. Congenital Disorders of Glycosylation Overview. Gene Reviews. Seattle, WA: University of Washington Seattle. http://www.ncbi.nlm.nih. gov/books/NBK1332/. Published August 1, 2009. Accessed February 11, 2011
- Congenital Disorders of Glycosylation Overview
- Sparks, S.¹ Donna, K.²

4
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- Biological roles of glycans
- 2nd ed. LaJolla, CA: Cold Spring Harbor Laboratory Press
- Varki A, Cummings RD, Esko JD, Freeze HH. Biological roles of glycans. In: Essentials of Glycobiology. 2nd ed. LaJolla, CA: Cold Spring Harbor Laboratory Press; 2009
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- Varki, A.¹ Cummings, R.D.² Esko, J.D.³ Freeze, H.H.⁴

5
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- 8th ed. Philadelphia, PA: Saunders
- Taeusch HW, Ballard RA, Gleason CA, Avery ME. Avery's Diseases of the Newborn. 8th ed. Philadelphia, PA: Saunders; 2005
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- Taeusch, H.W.¹ Ballard, R.A.² Gleason, C.A.³ Avery, M.E.⁴

6
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- The expanding spectrum of congenital disorders of glycosylation
- DOI 10.1016/j.jpeds.2005.08.064, PII S0022347605008310
- Collins AE, Ferriero DM. The expanding spectrum of congenital disorders of glycosylation. J Pediatr. 2005;147:728-730 (Pubitemid 41774826)
- (2005) Journal of Pediatrics , vol.147 , Issue.6 , pp. 728-730
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7
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- Congenital disorders of glycosylation: A rapidly expanding disease family
- Jaeken J, Matthijs G. Congenital disorders of glycosylation: a rapidly expanding disease family. Ann Rev Genom Hum Genet. 2007;8 1. 261-278
- (2007) Ann Rev Genom Hum Genet. , vol.8 , Issue.1 , pp. 261-278
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8
- 84861082054
- Kliegman: Nelson Textbook of Pediatrics Ed. Kliegman. Philadelphia: Saunders
- McGovern MM, Desnick RJ. Disorders of Glycoprotein Degradation and Structure. Kliegman: Nelson Textbook of Pediatrics. Ed. Kliegman. Philadelphia: Saunders; 2007
- (2007) Disorders of Glycoprotein Degradation and Structure
- McGovern, M.M.¹ Desnick, R.J.²

9
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- Congenital disorders of glycosylation: CDG-I, CDG-II, and beyond
- DOI 10.2174/156652407780831548
- Freeze HH. Congenital disorders of glycosylation: CDG-I, CDG-II, and beyond. Curr Molecul Med. 2007;7(4):389-396 (Pubitemid 46979703)
- (2007) Current Molecular Medicine , vol.7 , Issue.4 , pp. 389-396
- Freeze, H.H.¹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.