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

Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism

C. Knopf, R. Rod, J. Jaeken, M. Berant and E. Van Schaftingen, et al.

Journal of Inherited Metabolic Disease, 2000, Volume 23, Number 4, Pages 399-403

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Journal Article

Carbohydrate-deficient glycoprotein syndrome: Beyond the screen

J. M. Fletcher, G. Matthijs, J. Jaeken, E. Van Schaftingen and P.V. Nelson

Journal of Inherited Metabolic Disease, 2000, Volume 23, Number 4, Pages 396-398

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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

Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I

Lorenzo Pavone, Agata Fiumara, Rita Barone, Renata Rizzo and Piera Buttitta, et al.

Journal of Neurology, 1996, Volume 243, Number 10, Pages 700-705

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Journal Article

Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1

F. Imtiaz, V. Worthington, M. Champion, C. Beesley and J. Charlwood, et al.

Journal of Inherited Metabolic Disease, 2000, Volume 23, Number 2, Pages 162-174

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Journal Article

Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome

T. J. de Koning, M. Toet, L. Dorland, L. S. de Vries and I. E. T. van den Berg, et al.

Journal of Inherited Metabolic Disease, 1998, Volume 21, Number 6, Pages 681-682

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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

Oligosaccharide structures of immunoglobulin G from two patients with carbohydrate-deficient glycoprotein syndrome

Jianguo Gu, Akihiro Kondo, Nobuhiko Okamoto and Yoshinao Wada

Glycoconjugate Journal, 1984, Volume 1, Number 4, Pages 247-252

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Journal Article

NormalN-oligosaccharyltransferase activity in fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome

R. Knauer, L. Lehle, F. Hanefeld and K. Figura

Journal of Inherited Metabolic Disease, 1994, Volume 17, Number 5, Pages 541-544

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