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12 in total

1. Carbohydrate-deficient glycoprotein syndrome type I: determination of the oligosaccharide structure of newly synthesized glycoproteins by analysis of calnexin binding.

Authors: T Marquardt; K Ullrich; R Niehues; H G Koch; E Harms
Journal: J Inherit Metab Dis Date: 1996 Impact factor: 4.982

2. Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome.

Authors: D Skladal; W Sperl; H Henry; C Bachmann
Journal: J Inherit Metab Dis Date: 1996 Impact factor: 4.982

3. 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

4. Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

Authors: F Imtiaz; V Worthington; M Champion; C Beesley; J Charlwood; P Clayton; G Keir; N Mian; B Winchester
Journal: J Inherit Metab Dis Date: 2000-03 Impact factor: 4.982

Review 5. Applications of mass spectrometry in the study of inborn errors of metabolism.

Authors: P T Clayton
Journal: J Inherit Metab Dis Date: 2001-04 Impact factor: 4.982

Review 6. The carbohydrate-deficient glycoprotein syndromes: an overview.

Authors: J Jaeken; H Carchon
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982

7. Improvement of CDG diagnosis by combined examination of several glycoproteins.

Authors: J Fang; V Peters; B Assmann; C Körner; G F Hoffmann
Journal: J Inherit Metab Dis Date: 2004 Impact factor: 4.982

8. An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia.

Authors: Pier Luigi Calvo; Marco Spada; Ivana Rabbone; Michele Pinon; Francesco Porta; Fabio Cisarò; Stefania Reggiani; Angelo B Cefalù; Luisella Sturiale; Domenico Garozzo; Dirk J Lefeber; Jaak Jaeken
Journal: JIMD Rep Date: 2017-06-23

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

Authors: H Stibler; G Blennow; B Kristiansson; H Lindehammer; B Hagberg
Journal: J Neurol Neurosurg Psychiatry Date: 1994-05 Impact factor: 10.154

Review 10. 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