Carbohydrate-Deficient Glycoprotein Syndrome

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Recent Publications on Carbohydrate-Deficient Glycoprotein Syndrome:
Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib. BACKGROUND: A 22-year-old female presented with edema, diarrhea,...	18th June, 2008	Department of Internal Medicine, Erasmus University Medical Center,	Nat Clin Pract Gastroenterol Hepatol. 2008 Apr;5(4):220-4. Epub 2008 Feb DOI Direct Link
[Hepatomegaly and early cytolysis as presenting symptoms in CDG syndrome type Ia] As part of the EUROCarbDB project (www.eurocarbdb.org) we have carefully...	5th June, 2008		Tunis Med. 2008 Feb;86(2):204-7.
Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia. The congenital disorder of glycosylation type Ia (CDG-Ia) presents a broad...	22nd April, 2008	Metabolic unit, Department of Paediatrics, Hospital Necker-Enfants	Mol Genet Metab. 2008 Apr;93(4):444-9. Epub 2008 Feb 21. DOI Direct Link
Hyperinsulinism in infancy and childhood: when an insulin level is not always enough. BACKGROUND: Hypoglycemia in infants and children can lead to seizures,...	4th April, 2008	The Children's Hospital of Philadelphia, Division of Endocrinology,	Clin Chem. 2008 Feb;54(2):256-63. Epub 2007 Dec 21. DOI Direct Link
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. Cerebellar ataxia can have many genetic causes among which are the...	1st March, 2008	Dept. of Human Genetics, Radboud University, Nijmegen Medical Centre,	J Neurol. 2007 Oct;254(10):1356-8. Epub 2007 Aug 15. DOI Direct Link
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Carbohydrate-Deficient Glycoprotein Syndrome Patents:
US Patent No.	Title
7368531	Human secreted proteins
6919424	Binding peptides for carcinoembryonic antigen (CEA)
6916829	Method for enhancing mutant enzyme activity in gaucher disease
6862466	Methods of monitoring glucose levels in a subject and uses thereof
6852544	Rapid quantitative analysis of proteins or protein function in complex mixtures
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BioPortfolio Ltd. offers e-mail and postal lists for Carbohydrate-Deficient Glycoprotein Syndrome scientists - we have details of around 35 individuals working on Carbohydrate-Deficient Glycoprotein Syndrome .

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