Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency

Journal of Inherited Metabolic Disease

Volumn 32, Issue SUPPL. 1, 2009, Pages

  Shanti, B ^a   Silink, M ^a,b   Bhattacharya, K ^a,b   Howard, N J ^a   Carpenter, K ^a,b   Fietz, M ^c   Clayton, P ^d   Christodoulou, J ^a,b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c Discipline of Paediatrics and Child Health University of Sydney ^*  (Australia)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MUTASE; PHOSPHOMANNOMUTASE 2, HUMAN;

ARTICLE; BRAIN; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; DIFFERENTIAL DIAGNOSIS; ENZYMOLOGY; FEMALE; GENETICS; HUMAN; INFANT; INSULINOMA; MALE; MULTIPLE ORGAN FAILURE; MUTATION; NEWBORN; OLIVOPONTOCEREBELLAR ATROPHY; PATHOLOGY; PRESCHOOL CHILD;

BRAIN; CHILD, PRESCHOOL; CONGENITAL DISORDERS OF GLYCOSYLATION; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MULTIPLE ORGAN FAILURE; MUTATION; NESIDIOBLASTOSIS; OLIVOPONTOCEREBELLAR ATROPHIES; PHOSPHOTRANSFERASES (PHOSPHOMUTASES);

EID: 84881033025     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1180-2     Document Type: Article

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