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

Stibler, H; Blennow, G; Kristiansson, B; Lindehammer, H; Hagberg, B
May 1994
Journal of Neurology, Neurosurgery & Psychiatry;May1994, Vol. 57 Issue 5, p552
Academic Journal
journal article
No abstract available.


Related Articles

  • Early Ocular Manifestations in an Infant With Carbohydrate-Deficient Glycoprotein Syndrome Type Ia. Laplace, Olivier; Voegtle, Rémy; Rigolet, Marie-Hélène; Bourcier, Tristan; Nordmann, Jean-Philippe // Journal of Pediatric Ophthalmology & Strabismus;May/Jun2003, Vol. 40 Issue 3, p179 

    Presents a case study of an ophthalmic manifestations in a patient with carbohydrate-deficient glycoprotein syndrome type Ia. Medical history of the patient; Diagnosis; Etiology of carbohydrate-deficient glycoprotein syndrome.

  • Carbohydrate-deficient glycoprotein syndrome. Hirsch, David // Exceptional Parent;Jul99, Vol. 29 Issue 7, p64 

    Discusses carbohydrate-deficient glycoprotein syndrome (CDGS). Causes of CDGS; Biochemical basis of CDGS; Types of CDGS; Symptoms of this syndrome; Diagnosis and treatment.

  • Carbohydrate-deficient glycoprotein syndrome in a newborn with an unbalanced chromosomal translocation. Bowling, F. G.; Hurrion, E.; Bryan, J.; Oats, J.; McGill, J. J. // European Journal of Pediatrics;1999, Vol. 158 Issue 10, p794 

    Abstract Carbohydrate-deficient glycoprotein syndromes may occur as a primary result of distinct genetic disruption of the enzymes involved in processing the carbohydrate moeities of glycoproteins They may also occur due to a number of secondary defects in glycosylation. Conclusion A female...

  • What's New in the Diagnosis and Management of Metabolic Syndrome.  // Pharmacy Today;Mar2004, Vol. 10 Issue 3, p1 

    Reports on what is new in the diagnosis and management of metabolic syndrome. Description by the National Diabetes Education Program (NDEP) of the "globalization and growth" of metabolic syndrome as a clinically silent constellation of heart disease risk factors and insulin resistance;...

  • Prenatal diagnosis in CDG1 families: beware of heterogeneity. Matthijs, Gert; Schollen, Els; Cassiman, Jean-Jacques; Cormier-Daire, Valérie; Jaeken, Jaak; van Schaftingen, Emile // European Journal of Human Genetics;Mar1998, Vol. 6 Issue 2, p99 

    Carbohydrate-deficient glycoprotein syndrome type I (CDG1) is an autosomal recessive, metabolic disorder with severe psychomotor retardation and a high mortality rate in early childhood. Most patients have a deficiency of phosphomannomutase, due to mutations in PMM2, a gene located on chromosome...

  • Distinct Features of Congenital Disorder of Glycosylation Type IIx in Kuwait: A Case Report. Makhseed, Nawal; Dhaunsi, Gursev; Jaeken, Jaak // Journal of Child Neurology;Feb2012, Vol. 27 Issue 2, p222 

    Congenital disorders of glycosylation are a rare but complex group of inborn metabolic diseases that result in carbohydrate-deficient glycoproteins. Biochemical and clinical features of both types I and II of this group of disorders have been well characterized and reported from various parts of...

  • Chapter 40: Complications of Obesity: Metabolic Syndrome. Osganian, Stavroula K.; de Ferranti, Sarah // Nutrition in Pediatrics: Basic Science & Clinical Applications;2008, p455 

    Chapter 40 of the book "Nutrition in Pediatrics: Basic Science & Clinical Applications" is presented. The chapter offers information on obesity-associated metabolic abnormalities known as metabolic syndrome. Adults with metabolic syndrome have significantly increased risk for developing type 2...

  • Association of the Metabolic Syndrome and Chronic Kidney Disease in U.S. Adults. J. Chen; Muntner, P.; Hamm, L. L.; Jones, D. W.; Batuman, V.; Fonseca, V.; Whelton, P. K.; J. He // Annals of Internal Medicine;2/3/2004, Vol. 140 Issue 3, pI39 

    Studies the association of the metabolic syndrome and chronic kidney disease in U.S. Adults. Description of chronic kidney disease; Components of metabolic syndrome; Details of the study; Link between chronic kidney disease and metabolic syndrome.

  • Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency. Mayatepek, E.; Kohlmüller, D. // European Journal of Pediatrics;1998, Vol. 157 Issue 7, p605 

    Focuses on mannose supplementation in carbohydrate-deficient glycoprotein syndrome (CDGS) type I and phosphomannomutase (PMM) deficiency. Characteristic biochemical abnormalities in type I CDGS and PMM deficiency; Analysis of serum mannose concentration by an enzymatic method and by gas...

  • High Anger Expression Exacerbates the Relationship Between Age and Metabolic Syndrome. Boylan, Jennifer Morozink; Ryff, Carol D. // Journals of Gerontology Series B: Psychological Sciences & Socia;Jan2015, Vol. 70 Issue 1, p77 

    Objective. Building on prior work linking high anger expression to poor health, this cross-sectional study addressed whether anger expression exacerbated age-related risk for metabolic syndrome in a national sample of adults, known as MIDUS (Midlife in the United States). Method. Respondents...


Read the Article


Sign out of this library

Other Topics