Laboratory Diagnosis of Congenital Disorders of Glycosylation Type I by Analysis of Transferrin Glycoforms-Reference-Cited by-同舟云学术

Laboratory Diagnosis of Congenital Disorders of Glycosylation Type I by Analysis of Transferrin Glycoforms

Published:2007-09 Issue:5 Volume:11 Page:303-311
ISSN:1177-1062
Container-title:Molecular Diagnosis & Therapy
language:en
Short-container-title:Mol Diag Ther

Author:

Babovic-Vuksanovic Dusica,O’Brien John F.

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology,Genetics,Molecular Medicine,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/BF03256251.pdf

Reference39 articles.

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2. Aebi M, Helenius A, Schenk B, et al. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. Glycoconj J 1999 Nov; 16(11): 669–71

3. Jaeken JM, Vanderschueren-Lodeweyckx P, Casaer L, et al. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency increased serum arylsulphatase A and increased CSF protein: a new syndrome? Pediatr Res 1980; 14: 179

4. Jaeken J, van Eijk HG, van der Heul C, et al. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta 1984 Dec 29; 144(2–3): 245–7

5. Babovic-Vuksanovic D, Patterson MC, Schwenk WF, et al. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. J Pediatr 1999 Dec; 135 (6): 775–81

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