Concepedia

Development of liver disease despite mannose treatment in two patients with CDG-Ib

Karine Mention, Florence Lacaille, Vassili Valayannopoulos, S. Romano, Alice Kuster, M. Cretz, Haider Kamil Zaidan, Louise Galmiche, Francis Jaubert, Yves de Keyzer,

Molecular Genetics and Metabolism · 2007 · 56 citations · 14 references

DOI

Concepts

References

14

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

R Niehues, Martin Hasilik, Gordon Alton et al. · Journal of Clinical Investigation · 1998 · 428 citations · Full text

, , +11

Carbohydrate deficient glycoprotein (CDG) syndrome type I.

Jaak Jaeken, Gert Matthijs, Rita Barone et al. · Journal of Medical Genetics · 1997 · 191 citations · Full text

, , +15

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

Pascole de Lonlay, Maryvonne Cuer, Sandrine Vuillaumier‐Barrot et al. · The Journal of Pediatrics · 1999 · 133 citations

, , +12

Ablation of Mouse Phosphomannose Isomerase (Mpi) Causes Mannose 6-Phosphate Accumulation, Toxicity, and Embryonic Lethality

Charles DeRossi, Lars Bode, Erik A. Eklund et al. · Journal of Biological Chemistry · 2005 · 110 citations · Full text

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Oral Ingestion of Mannose Elevates Blood Mannose Levels: A First Step toward a Potential Therapy for Carbohydrate-Deficient Glycoprotein Syndrome Type I

Gordon Alton, Susanne Kjærgaard, James R. Etchison et al. · Biochemical and Molecular Medicine · 1997 · 97 citations

, , +12