Inhibition of Phosphomannose Isomerase by Fructose 1-Phosphate: An Explanation for Defective N-Glycosylation in Hereditary Fructose Intolerance

Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type I

Emile Van Schaftingen, Jaak Jaeken · FEBS Letters · 1995 · 364 citations

Life Sciences, Biochemistry, Molecular Genetics +12

Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90

J. Jaeken, M Vanderschueren‐Lodeweyckx, L Snoeck et al. · Pediatric Research · 1980 · 289 citations

Medicine, Endocrinology, Neurology +8

The mechanism by which rat liver glucokinase is inhibited by the regulatory protein

A. Vandercammen, Emile Van Schaftingen · European Journal of Biochemistry · 1990 · 114 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +10

Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease.

Helena Stibler, G. Blennow, B. Kristiansson et al. · Journal of Neurology Neurosurgery & Psychiatry · 1994 · 85 citations · Full text

Medicine, Neurology, Pediatrics +12

Changes of Liver Metabolite Concentrations in Adults with Disorders of Fructose Metabolism after Intravenous Fructose by 31P Magnetic Resonance Spectroscopy

Peter Boesiger, R. Buchli, Daniel M. Meier et al. · Pediatric Research · 1994 · 62 citations

Life Sciences, Biochemistry, Hepatic Pharmacokinetics +16