Presentation of congenital disorders of glycosylation type 1a

Pediatric Emergency Care

Volumn 26, Issue 3, 2010, Pages 215-217

  Lockemer, Hillary E ^a   Harrington, John W ^a  

^a CHILDREN S HOSPITAL OF THE KING S DAUGHTERS   (United States)

Author keywords

Cardiomegaly; Cerebellar hypolasia; Congenital disorder of glycosylation type 1a; Hypotonia; Pericardial effusion

Indexed keywords

ARTICLE; CARDIOMEGALY; CASE REPORT; CEREBELLUM DISEASE; CEREBELLUM HYPOLASIA; CHILD; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; FEMALE; HUMAN; LABORATORY TEST; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PERICARDIAL EFFUSION; PERICARDIOCENTESIS; PRESCHOOL CHILD;

CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; FEMALE; GLYCOSYLATION; HUMANS; INFANT; OLIGOSACCHARIDES; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); TRANSFERRIN;

EID: 77949420305     PISSN: 07495161     EISSN: None     Source Type: Journal    
DOI: 10.1097/PEC.0b013e3181d1e733     Document Type: Article

References (6)

1. Krasnewich D, O'Brien K, Sparks S. Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia). Am J Med Genet C Semin Med Genet. 2007;145C:302-306.
2. Sparks SE, Krasnewich DM. Congenital disorder of glycosylation type Ia. Available at: http://www.genetests.org. Accessed July 8, 2008.
3. Jaeken J, Carchon H. Congenital disorders of glycosylation: the rapidly growing tip of the iceberg. Curr Opin Neurol. 2001;14:811-815.
4. Sparks SE, Krasnewich DM. Congenital disorder of glycosylation overview. Available at: http://www.genetests.org. Accessed July 8, 2008.
5. de Lonlay P, Seta N, Barrot S, et al. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet. 2001;38:14-19.
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