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Titolo:
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - CLINICAL EXPRESSION INADULTS WITH A NEW METABOLIC DISEASE
Autore:
STIBLER H; BLENNOW G; KRISTIANSSON B; LINDEHAMMER A; HAGBERG B;
Indirizzi:
KAROLINSKA HOSP,DEPT NEUROL S-10401 STOCKHOLM SWEDEN UNIV LUND HOSP,DEPT PEDIAT S-22185 LUND SWEDEN EAST HOSP,DEPT PEDIAT S-41685 GOTHENBURG SWEDEN LINKOPING UNIV HOSP,DEPT CLIN NEUROPHYSIOL S-58185 LINKOPING SWEDEN
Titolo Testata:
Journal of Neurology, Neurosurgery and Psychiatry
fascicolo: 5, volume: 57, anno: 1994,
pagine: 552 - 556
SICI:
0022-3050(1994)57:5<552:CGS-CE>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
TRANSFERRIN; SERUM; VARIANT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
21
Recensione:
Indirizzi per estratti:
Citazione:
H. Stibler et al., "CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - CLINICAL EXPRESSION INADULTS WITH A NEW METABOLIC DISEASE", Journal of Neurology, Neurosurgery and Psychiatry, 57(5), 1994, pp. 552-556

Abstract

A new group of recessively inherited metabolic disorders affecting glycoprotein metabolism has been identified-the carbohydrate-deficient-glycoprotein (CDG) syndromes. Here the course and clinical expression of CDG syndrome type I in 13 patients who have passed the age of 15 years are described. All presented with early onset psychomotor retardation, in most cases combined with slight facial dysmorphic features, some degree of hepatic dysfunction, and in one case, pericardial effusion. About half of the patients had subcutaneous lipodystrophy and comatose or stroke-like episodes during childhood. After the age of 15 the disease was mainly characterised by neurological symptoms consisting ofnon-progressive ataxia associated with cerebellar hypoplasia, stable mental retardation, variable peripheral neuropathy, and strabismus. One third of the patients had generalised seizures, usually sporadic, and all had retinal pigmentary degeneration. In all cases there was moreor less pronounced thoracic deformity and no female had passed puberty. Also, the oldest female showed premature aging. Severe internal organ symptoms, which are common in pediatric patients, were absent. All patients had highly raised serum concentrations of the biochemical marker carbohydrate-deficient transferrin, which can be used to verify the diagnosis. It is concluded that after childhood, CDG syndrome type Iis a largely non-progressive disease compatible with a socially functioning but dependent lifestyle.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 18:06:24