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19 in total

1. The metabolic origins of mannose in glycoproteins.

Authors: Mie Ichikawa; David A Scott; Marie-Estelle Losfeld; Hudson H Freeze
Journal: J Biol Chem Date: 2014-01-09 Impact factor: 5.157

2. Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

Authors: S Kim; V Westphal; G Srikrishna; D P Mehta; S Peterson; J Filiano; P S Karnes; M C Patterson; H H Freeze
Journal: J Clin Invest Date: 2000-01 Impact factor: 14.808

3. Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.

Authors: Anette Schneider; Christian Thiel; Jan Rindermann; Charles DeRossi; Diana Popovici; Georg F Hoffmann; Hermann-Josef Gröne; Christian Körner
Journal: Nat Med Date: 2011-12-11 Impact factor: 53.440

4. Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.

Authors: B Shanti; M Silink; K Bhattacharya; N J Howard; K Carpenter; M Fietz; P Clayton; J Christodoulou
Journal: J Inherit Metab Dis Date: 2009-04-27 Impact factor: 4.982

Review 5. Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.

Authors: T Marquardt; J Denecke
Journal: Eur J Pediatr Date: 2003-03-15 Impact factor: 3.183

Review 6. Therapies and therapeutic approaches in Congenital Disorders of Glycosylation.

Authors: Christian Thiel; Christian Körner
Journal: Glycoconj J Date: 2012-09-16 Impact factor: 2.916

Review 7. The congenital disorders of glycosylation: a multifaceted group of syndromes.

Authors: Erik A Eklund; Hudson H Freeze
Journal: NeuroRx Date: 2006-04

8. Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts.

Authors: Aya Higashidani; Lars Bode; Atsushi Nishikawa; Hudson H Freeze
Journal: Mol Genet Metab Date: 2009-01-20 Impact factor: 4.797

Review 9. Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients.

Authors: Hudson H Freeze
Journal: Biochim Biophys Acta Date: 2009-09

Review 10. Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update.

Authors: Jan Verheijen; Shawn Tahata; Tamas Kozicz; Peter Witters; Eva Morava
Journal: Genet Med Date: 2019-09-19 Impact factor: 8.822