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-Reference-Cited by-同舟云学术

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

Published:2009-04-27 Issue:S1 Volume:32 Page:241-251
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Shanti B.,Silink M.,Bhattacharya K.,Howard N. J.,Carpenter K.,Fietz M.,Clayton P.,Christodoulou J.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-009-1180-2

Reference60 articles.

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3. Babovic-Vuksanovic D, Patterson MC, Schwenk WF, O’Brien JF, Vockley J, Freeze HH, Mehta DP, Michels VV (1999) Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. J Pediatr 135: 775–781. doi: 10.1016/S0022-3476(99)70103-4 .

4. Barone R, Pavone L, Fiumara A, Bianchini R, Jaeken J (1999) Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type 1a (phosphomannomutase deficiency). Brain Dev 21: 260–263. doi: 10.1016/S0387-7604(99)00020-0 .

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