A child with an underrecognized form of developmental delay: A congenital disorder of glycosylation

CMAJ. Canadian Medical Association Journal

Volumn 175, Issue 11, 2006, Pages 1369-1370

  Mahant, Sanjay ^a   Feigenbaum, Annette ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOMANNOMUTASE; PHOSPHOMANNOMUTASE 2; TRANSFERRIN;

ANAMNESIS; ARTICLE; CASE REPORT; CELL CULTURE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; ENZYME ACTIVITY; GENE MUTATION; HUMAN; INFANT; LABORATORY TEST; MALE; OPHTHALMOSCOPY; PEDIATRIC HOSPITAL; RADIODIAGNOSIS; SKIN FIBROBLAST;

EID: 33845324878     PISSN: 08203946     EISSN: 14882329     Source Type: Journal    
DOI: 10.1503/cmaj.060214     Document Type: Article

References (3)

1. Jaeken J. Congenital disorders of glycosylation (CDG). J Inherit Metab Dis 2003;26:99-118.
2. Congenital disorder of glycosylation, type Ia. On-line Mendelian Inheritance in Man, OMIM. Baltimore: Johns Hopkins University. MIM no 212065. Available: www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212065 (accessed 2006 Sept 19).
3. Shevell M, Ashwal S, Donley D, et al; Practice Committee of the Child Neurology Society. Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academic of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2003;60:367-80.