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Titolo:
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES - PECULIAR GROUP OF NEWDISORDERS
Autore:
HAGBERG BA; BLENNOW G; KRISTIANSSON B; STIBLER H;
Indirizzi:
E HOSP GOTHENBURG,DEPT PEDIAT S-41685 GOTHENBURG SWEDEN GOTHENBURG UNIV,DEPT PEDIAT S-41124 GOTHENBURG SWEDEN LUND UNIV,DEPT PEDIAT S-22101 LUND SWEDEN KAROLINSKA INST,DEPT NEUROL S-10401 STOCKHOLM 60 SWEDEN
Titolo Testata:
Pediatric neurology
fascicolo: 4, volume: 9, anno: 1993,
pagine: 255 - 262
SICI:
0887-8994(1993)9:4<255:CGS-PG>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
OLIVOPONTOCEREBELLAR ATROPHY; NEONATAL ONSET; SERUM; ABNORMALITIES; TRANSFERRIN;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
30
Recensione:
Indirizzi per estratti:
Citazione:
B.A. Hagberg et al., "CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES - PECULIAR GROUP OF NEWDISORDERS", Pediatric neurology, 9(4), 1993, pp. 255-262

Abstract

A new group of metabolic disorders, the carbohydrate-deficient glycoprotein (CDG) syndromes, is reviewed with emphasis on the key condition, the CDG syndrome type I. This disease, an autosomal-recessive multisystem condition, has now been diagnosed in 45 Scandinavian patients. It is characterized by carbohydrate deficiencies of a number of glycoproteins, including uniform changes in transferrin. The transferrin alterations provide a distinct biologic marker and a practical and simple laboratory diagnostic means employing analysis of serum or blood spotsfrom Guthrie-type filter paper. The syndrome presents differently through various life periods. A four-stage grouping system by age has been constructed and is presented. During infancy, internal organ symptoms are dominant; some may be life-threatening. In later childhood and adolescence, static mental deficiency, cerebellar ataxia, slowly progressive lower limb neuropathy, and pigmentary retinal degeneration, as well as secondary skeletal deformities, are the most prominent findings. Two very recently described clinical and biologic variants, CDG syndromes II and III, are summarized and compared to CDG type I.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 17:44:16