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Titolo:
Carbohydrate-deficient glycoprotein syndrome type 1a: A variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances
Autore:
van Ommen, CH; Peters, M; Barth, PG; Vreken, P; Wanders, RJA; Jaeken, J;
Indirizzi:
Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Pediat,Div Pediat Hematol, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam Amsterdam Netherlands NL-1105 AZ Z Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Div Pediat Neurol, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam Amsterdam Netherlands NL-1105 AZ Z Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam Amsterdam Netherlands NL-1105 AZ Z Amsterdam, Netherlands Univ Louvain, Dept Pediat, Louvain, Belgium Univ Louvain Louvain Belgium niv Louvain, Dept Pediat, Louvain, Belgium Univ Louvain, Ctr Metab Dis, Louvain, Belgium Univ Louvain Louvain Belgium v Louvain, Ctr Metab Dis, Louvain, Belgium
Titolo Testata:
JOURNAL OF PEDIATRICS
fascicolo: 3, volume: 136, anno: 2000,
pagine: 400 - 403
SICI:
0022-3476(200003)136:3<400:CGST1A>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
SYNDROME TYPE-I; PHOSPHOMANNOSE ISOMERASE DEFICIENCY; ABNORMALITIES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: van Ommen, CH Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Pediat Hematol, POB 22700, NL-1100 DE Amsterdam, Netherlands Univ Amsterdam POB22700 Amsterdam Netherlands NL-1100 DE s
Citazione:
C.H. van Ommen et al., "Carbohydrate-deficient glycoprotein syndrome type 1a: A variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances", J PEDIAT, 136(3), 2000, pp. 400-403

Abstract

An 8-year-old boy is described with borderline cognitive impairment, cerebellar hypoplasia, a stroke-like episode, and venous thrombosis of the left leg after a period of immobilization. The pattern of multiple abnormalitiesin blood coagulation suggested carbohydrate-deficient glycoprotein syndrome type la. Isoelectric focusing of serum transferrin was abnormal. The activity of phosphomannomutase in leukocytes and fibroblasts was decreased. Mutation analysis of the PMM2 gene revealed the R141H/E151G genotype. These results confirm the presence of carbohydrate-deficient glycoprotein syndrome type la without severe psychomotor retardation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 09:49:33