Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: Two novel PMM2 mutations

Journal of Inherited Metabolic Disease

Volumn 28, Issue 6, 2005, Pages 1189-1190

  Coman, David ^a,b   Klingberg, S ^b   Morris, D ^b   McGill, J ^a,b   Mercer, H ^c  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^c Queensland Government   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOMANNOMUTASE; TRANSFERRIN;

ACADEMIC ACHIEVEMENT; ARTICLE; ATAXIA; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; DISEASE SEVERITY; FACE DYSMORPHIA; FEMALE; GENE MUTATION; HUMAN; INTELLECTUAL IMPAIRMENT; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; STRABISMUS; TREMOR;

ALLELES; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD; DEVELOPMENTAL DISABILITIES; FEMALE; GENOTYPE; GLYCOSYLATION; HUMANS; LEUKOCYTES; MUTATION; PHENOTYPE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); TIME FACTORS; TRANSFERRIN;

EID: 31644435078     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-0166-y     Document Type: Article

References (7)

1. Coman D, McGill J, Morris D, et al (2004) Three siblings with congenital disorder of glycosylation type 1a with a mild intellectual phenotype. J Inherit Metab Dis 27 (Supplement 1): 190.
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7. Westphal V, Peterson S, Paterson M, et al (2001) Functional significance of PMM2 mutations in mildly affected patients with congenital disorder of glycosylation 1a. Genet Med 3 (6): 393-398.