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Titolo:
Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation
Autore:
Colome, C; Ferrer, I; Artuch, R; Vilaseca, MA; Pineda, M; Briones, P;
Indirizzi:
Univ Barcelona, Hosp Sant Joan de Deu, Serv Bioquim, Barcelona, Spain UnivBarcelona Barcelona Spain n de Deu, Serv Bioquim, Barcelona, Spain Hosp Sant Joan de Deu Clin, Unitat Integrada, Serv Neuropediat, Barcelona,Spain Hosp Sant Joan de Deu Clin Barcelona Spain Neuropediat, Barcelona,Spain CSIC, Corp Sanitaria, Inst Bioquim Clin, Barcelona, Spain CSIC BarcelonaSpain orp Sanitaria, Inst Bioquim Clin, Barcelona, Spain
Titolo Testata:
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
fascicolo: 10, volume: 38, anno: 2000,
pagine: 965 - 969
SICI:
1434-6621(200010)38:10<965:PEWTAO>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
PHOSPHOMANNOSE ISOMERASE DEFICIENCY; NORMAL PUBERTAL DEVELOPMENT; SYNDROME TYPE-II; GLYCOPROTEIN SYNDROME; PROTEIN GLYCOSYLATION; SERUM; MUTATIONS; THERAPY; GENE;
Keywords:
carbohydrate-deficient transferrin; congenital disorders of glycosylation; sialotransferrin; sialic acid; glycoprotein; inborn error;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Ferrer, I Univ Barcelona, Hosp Sant Joan de Deu, Serv Bioquim, Passeig Sant Joan de Deu 2, Barcelona, Spain Univ Barcelona Passeig Sant Joan de Deu 2Barcelona Spain pain
Citazione:
C. Colome et al., "Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation", CLIN CH L M, 38(10), 2000, pp. 965-969

Abstract

Congenital disorders of glycosylation (CDG) are genetic multisystemic diseases due to various defects in the biosynthesis or processing of glycoproteins. Our aim is to present our experience in the selective screening of CDGsyndrome in a paediatric population (421 patients) with clinical suspicionof the disease, analysing serum carbohydrate-deficient transferrin (CDT) by radioimmunoassay and/or immunoturbidimetry. We established the normal values for our paediatric population. The abnormal results were confirmed and classified by isoelectric focusing of serum sialotransferrins, and by enzymatic and molecular studies. We found 14 patients (3.3%) with abnormal serumCDT; 11 of them were classified as CDG type Ia (CDG-Ia) and the other three showed altered isoelectrofocusing patterns but remain untyped and are under investigation. In conclusion, both CDT assays proved to be useful tools for CDG screening. Isoelectric focusing is a simple procedure but it requires specific instruments that are not always available. Since the immunoturbidimetric procedure is commonly used to monitor for recent excessive alcohol consumption in clinical laboratories and does not require special equipment, it may also be reliably used to screen for CDG in children under clinical suspicion.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 09:55:22