Results 141 to 150 of about 1,603 (150)

Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)

Brain and Development, 1999
Rita Barone, Agata Fiumara, Jaak Jaeken
exaly  

Hypoglycosylation of a brain glycoprotein (β-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency

Glycobiology, 1997
Andrea Hoffmann, Jaak Jaeken
exaly  

Phosphomannomutase Deficiency: The Molecular Basis of the Classical Jaeken Syndrome (CDGS Type Ia)

Molecular Genetics and Metabolism, 1999
Gert Matthijs, Stephanie Grunewald
exaly  

High Residual Activity of PMM2 in Patients’ Fibroblasts: Possible Pitfall in the Diagnosis of CDG-Ia (Phosphomannomutase Deficiency)

American Journal of Human Genetics, 2001
Stephanie Grunewald, Emile Van Schaftingen, Jaak Jaeken   +2 more
exaly  

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

Nature Genetics, 1997
Gert Matthijs, Els Pardon, Maria Veiga-da-Cunha   +2 more
exaly  

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

Journal of Inherited Metabolic Disease, 1998
Rita Barone, Agata Fiumara
exaly  

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

International Journal of Molecular Sciences, 2018
Mercè Izquierdo-Serra, Antonio Federico Martínez-Monseny, Ramón Cancho-Candela   +2 more
exaly  

Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency

European Journal of Pediatrics, 1998
exaly  

Biochemical phenotype of a common disease‐causing mutation and a possible therapeutic approach for the phosphomannomutase 2‐associated disorder of glycosylation

Molecular Genetics & Genomic Medicine, 2013
Giuseppina Andreotti, Emilia Maria Pedone, Assunta Giordano   +2 more
exaly  

Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency

European Journal of Paediatric Neurology, 1998
exaly