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Titolo:
INTERFAMILIAL AND INTRAFAMILIAL VARIABILITY IN MUCOLIPIDOSIS-II (I-CELL DISEASE)
Autore:
BECK M; BARONE R; HOFFMANN R; KRATZER W; RAKOWSKY T; NIGRO F; FIUMARA A;
Indirizzi:
UNIV MAINZ,KINDERKLIN,LANGENBECKSTR 1 D-55101 MAINZ GERMANY CATANIA UNIV,DEPT PEDIAT CATANIA ITALY KINDERKLIN OFFENBURG OFFENBURG GERMANY KINDERKLIN KONSTANZ CONSTANCE GERMANY RITTBERG KINDERKLIN BERLIN GERMANY
Titolo Testata:
Clinical genetics
fascicolo: 4, volume: 47, anno: 1995,
pagine: 191 - 199
SICI:
0009-9163(1995)47:4<191:IAIVIM>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
N-ACETYLGLUCOSAMINE; CARDIAC INVOLVEMENT; FIBROBLASTS; DEFICIENCY; PATHOLOGY;
Keywords:
CLINICAL DIVERSITY; I-CELL DISEASE; MUCOLIPIDOSIS II; MUCOLIPIDOSIS III; PHOSPHOTRANSFERASE; PSEUDO-HURLER POLYDYSTROPHY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
27
Recensione:
Indirizzi per estratti:
Citazione:
M. Beck et al., "INTERFAMILIAL AND INTRAFAMILIAL VARIABILITY IN MUCOLIPIDOSIS-II (I-CELL DISEASE)", Clinical genetics, 47(4), 1995, pp. 191-199

Abstract

In this paper nine patients with mucolipidosis II (I-cell disease) are described. They had clinical features commonly found in mucolipidosis II, including disproportionate dwarfism, coarse facial features and mental retardation. However, there was remarkable variability in age of onset, organ manifestation and radiological findings. Some had unusual clinical symptoms including pericardial effusion and profound brainatrophy. Striking differences in phenotypic expression were also seenin two affected siblings. Clinical heterogeneity is observed not onlyin mucolipidosis II but also in many other lysosomal storage disorders. The factors that may contribute to this clinical diversity are discussed.

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Documento generato il 26/11/20 alle ore 07:08:19