Results 121 to 130 of about 24,745,339 (132)

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

Molecular Genetics and Metabolism, 1999
Gert Matthijs, Els Schollen
exaly  

Hypoglycosylation of Piezo1 and Cavα2δ subunit: relevance for neuronal excitability and neurological disorders associated to Phosphomannomutase 2 deficiency (PMM2-CDG)

The congenital disorders of glycosylation (CDGs) are a disease family caused by mutations in genes involved in the glycosylation pathways. PMM2-CDG, associated with mutations in the phosphomannomutase 2 (PMM2) gene, is the most common CDG subtype and presents with severe neurological alterations such as stroke-like episodes (SLEs).
openaire   +1 more source

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

Brain and Development, 1999
Rita Barone, Jaak Jaeken, Agata Fiumara   +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
Maja di Rocco, Edvige Veneselli, Roberta Biancheri   +2 more
exaly  

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

Glycobiology, 1997
Jaak Jaeken, Andrea Hoffmann, Harald S Conradt   +2 more
exaly  

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

European Journal of Pediatrics, 1998
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
exaly  

Complexes of the enzyme phosphomannomutase/phosphoglucomutase with a slow substrate and an inhibitor

Acta Crystallographica Section F: Structural Biology Communications, 2006
Lesa Beamer
exaly  

Phosphomannomutase deficiency and normal pubertal development

Journal of Inherited Metabolic Disease, 1998
exaly  

Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease

ELife
Ryan Vignogna, Joy Norris, Richard Steet   +2 more
exaly