Case Reports
Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: pathognomonic finding of two-dimensional electrophoresis?
- PMID: 1623619
Item in Clipboard
Case Reports
Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: pathognomonic finding of two-dimensional electrophoresis?
Clin Chem.
1992 Jul.
No abstract available
Similar articles
-
A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome.Pediatr Res. 1993 May;33(5):540-1. doi: 10.1203/00006450-199305000-00024. Pediatr Res. 1993. PMID: 8511030
-
Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome.Biochem Biophys Res Commun. 1992 Dec 15;189(2):832-6. doi: 10.1016/0006-291x(92)92278-6. Biochem Biophys Res Commun. 1992. PMID: 1472054
-
The carbohydrate deficient glycoprotein syndrome in three Japanese children.Brain Dev. 1992 Jan;14(1):30-5. doi: 10.1016/s0387-7604(12)80276-2. Brain Dev. 1992. PMID: 1590525
-
The carbohydrate-deficient glycoprotein syndromes: an overview.J Inherit Metab Dis. 1993;16(5):813-20. doi: 10.1007/BF00714272. J Inherit Metab Dis. 1993. PMID: 8295395 Review.
-
The carbohydrate-deficient glycoprotein syndrome: an experiment of nature in glycosylation.Biochem Soc Trans. 1995 Feb;23(1):185-8. doi: 10.1042/bst0230185. Biochem Soc Trans. 1995. PMID: 7758727 Review. No abstract available.
Cited by
-
Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.J Inherit Metab Dis. 2000 Mar;23(2):162-74. doi: 10.1023/a:1005669900330. J Inherit Metab Dis. 2000. PMID: 10801058 Clinical Trial.
-
Carbohydrate-deficient glycoprotein syndrome type I: determination of the oligosaccharide structure of newly synthesized glycoproteins by analysis of calnexin binding.J Inherit Metab Dis. 1996;19(2):246-50. doi: 10.1007/BF01799441. J Inherit Metab Dis. 1996. PMID: 8739977 No abstract available.
-
Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease.J Neurol Neurosurg Psychiatry. 1994 May;57(5):552-6. doi: 10.1136/jnnp.57.5.552. J Neurol Neurosurg Psychiatry. 1994. PMID: 8201322 Free PMC article.
-
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie).J Clin Invest. 2000 Jan;105(2):191-8. doi: 10.1172/JCI7302. J Clin Invest. 2000. PMID: 10642597 Free PMC article.
-
Applications of mass spectrometry in the study of inborn errors of metabolism.J Inherit Metab Dis. 2001 Apr;24(2):139-50. doi: 10.1023/a:1010358715835. J Inherit Metab Dis. 2001. PMID: 11405336 Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Other Literature Sources
Medical