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

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

Publisher： Springer Publishing Company

ISSN： 0141-8955

Source： Journal of Inherited Metabolic Disease, Vol.32, Iss.1, 2009-12, pp. : 241-251

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Congenital disorder of glycosylation type Ia in a Malaysian family: Clinical outcome and description of a novel PMM2 mutation

By Thong M.   Fietz M.   Nicholls C.   Lee M.   Asma O.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 41-44

Springer Publishing Company

Access to resources Recommend Favorite

Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)

By Barone R.   Carchon H.   Jansen E.   Pavone L.   Fiumara A.   Bosshard N.U.   Gitzelmann R.   Jaeken J.  

Journal of Inherited Metabolic Disease, Vol. 21, Iss. 2, 1998-04 ,pp. : 167-172

Springer Publishing Company

Access to resources Recommend Favorite

Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia

By Marquardt Thorsten   Hülskamp Georg   Gehrmann Josef   Debus Volker   Harms Erik   Kehl Hans  

European Journal of Pediatrics, Vol. 161, Iss. 10, 2002-10 ,pp. : 524-527

Springer Publishing Company

Access to resources Recommend Favorite

Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype)

By Barone R.   Sturiale L.   Fiumara A.   Uziel G.   Garozzo D.   Jaeken J.  

Journal of Inherited Metabolic Disease, Vol. 30, Iss. 1, 2007-02 ,pp. : 107-107

Springer Publishing Company

Access to resources Recommend Favorite

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder

By Spaapen L.   Bakker J.   Meer S.   Sijstermans H.   Steet R.   Wevers R.   Jaeken J.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 5, 2005-09 ,pp. : 707-714

Springer Publishing Company

Access to resources Recommend Favorite