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Titolo:
LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE (L-CHAD) DEFICIENCYIN A PATIENT WITH THE BANNAYAN-RILEY-RUVALCABA-SYNDROME
Autore:
FRYBURG JS; PELEGANO JP; BENNETT MJ; BEBIN EM;
Indirizzi:
UNIV VIRGINIA,HLTH SCI CTR,DEPT PEDIAT,BOX 386 CHARLOTTESVILLE VA 22908 UNIV TEXAS DALLAS TX 00000
Titolo Testata:
American journal of medical genetics
fascicolo: 1, volume: 52, anno: 1994,
pagine: 97 - 102
SICI:
0148-7299(1994)52:1<97:L3D(D>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
FATTY-ACID OXIDATION; MYHRE-SMITH SYNDROME; MYOPATHY;
Keywords:
BANNAYAN-RILEY RUVALCABA SYNDROME; LONG-CHAIN 3-HYDROXYACYL-COENZYME A DEHYDROGENASE; L-CHAD DEFICIENCY; MACROCEPHALY; MRI; LIPID MYOPATHY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
10
Recensione:
Indirizzi per estratti:
Citazione:
J.S. Fryburg et al., "LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE (L-CHAD) DEFICIENCYIN A PATIENT WITH THE BANNAYAN-RILEY-RUVALCABA-SYNDROME", American journal of medical genetics, 52(1), 1994, pp. 97-102

Abstract

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant condition of macrocephaly in combination with lipomas/hemangiomas, hypotonia, developmental delay, and a lipid myopathy. The etiology of the lipid storage myopathy has been unclear. We describe a black boy with findings of BRRS who also has a defect in long-chain fatty acid oxidation expressed in cultured skin fibroblasts as a deficiency of long-chain-L-3-hydroxyacyl-CoA dehydrogenase (L-CHAD). He also has an abnormal brain MRI and increased size of both lower limbs. We present this childbecause of his unusual combination of findings, and postulate that L-CHAD deficiency may be the cause of the lipid myopathy in BRRS. (C) 1994 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/10/20 alle ore 05:23:49