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Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex

C. Garel, C. Baumann, M. Besnard, H. Ogier and J. Jaeken, et al.

Skeletal Radiology, 1998, Volume 27, Number 1, Pages 43-45

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Journal Article

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

L. J. M. Spaapen, J. A. Bakker, S. B. van der Meer, H. J. Sijstermans and R. A. Steet, et al.

Journal of Inherited Metabolic Disease, 2005, Volume 28, Number 5, Pages 707-714

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Journal Article

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

B. Shanti, M. Silink, K. Bhattacharya, N. J. Howard and K. Carpenter, et al.

Journal of Inherited Metabolic Disease, Online First™, 25 April 2009

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Journal Article

The congenital disorders of glycosylation: A multifaceted group of syndromes

Erik A. Eklund and Hudson H. Freeze

Neurotherapeutics, 2006, Volume 3, Number 2, Pages 254-263

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Journal Article

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

R. Barone, H. Carchon, E. Jansen, L. Pavone and A. Fiumara, et al.

Journal of Inherited Metabolic Disease, 1998, Volume 21, Number 2, Pages 167-172

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Journal Article

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

J. Jaeken, J. Artigas, R. Barone, A. Fiumara and T. J. de Koning, et al.

Journal of Inherited Metabolic Disease, 1997, Volume 20, Number 3, Pages 447-449

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Journal Article

New Disorders in Carbohydrate Metabolism: Congenital Disorders of Glycosylation and Their Impact on the Endocrine System

Bradley S. Miller and Hudson H. Freeze

Reviews in Endocrine & Metabolic Disorders, 2003, Volume 4, Number 1, Pages 103-113

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Journal Article

Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG)

S. Grünewald, R. De Vos and J. Jaeken

Journal of Inherited Metabolic Disease, 2003, Volume 26, Number 1, Pages 49-54

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Journal Article

Phosphomannomutase deficiency and normal pubertal development

J. Artigas, E. Cardo, M. Pineda, R. Nosas and J. Jaeken

Journal of Inherited Metabolic Disease, 1998, Volume 21, Number 1, Pages 78-79

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