Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG

By Thompson Dorothy   Lyons Ruth   Russell-Eggitt Isabelle   Liasis Alki   Jägle Herbert   Grünewald Stephanie  

Journal of Inherited Metabolic Disease, Vol. 36, Iss. 6, 2013-11 ,pp. : 1039-1047

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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

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

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

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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

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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

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Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene): clinical, molecular and autopsy findings

By Wurm Donald   Hänsgen Andrea   Kim Yoo-Jin   Lindinger Angelika   Baghai Ali   Gortner Ludwig  

European Journal of Pediatrics, Vol. 166, Iss. 4, 2007-04 ,pp. : 377-378

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