Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Urinary organic acids in peroxisomal disorders: a simple screening method
Autore:
Yamaguchi, S; Iga, M; Kimura, M; Suzuki, Y; Shimozawa, N; Fukao, T; Kondo, N; Tazawa, Y; Orii, T;
Indirizzi:
Shimane Med Univ, Dept Pediat, Izumo, Shimane 6938501, Japan Shimane Med Univ Izumo Shimane Japan 6938501 zumo, Shimane 6938501, Japan Chubu Gakuin Univ, Gifu 5013936, Japan Chubu Gakuin Univ Gifu Japan 5013936 bu Gakuin Univ, Gifu 5013936, Japan Tottori Univ, Dept Pediat, Yonago, Tottori 6838504, Japan Tottori Univ Yonago Tottori Japan 6838504 Yonago, Tottori 6838504, Japan Gifu Univ, Sch Med, Dept Pediat, Gifu 5008705, Japan Gifu Univ Gifu Japan 5008705 , Sch Med, Dept Pediat, Gifu 5008705, Japan
Titolo Testata:
JOURNAL OF CHROMATOGRAPHY B
fascicolo: 1, volume: 758, anno: 2001,
pagine: 81 - 86
SICI:
1387-2273(20010705)758:1<81:UOAIPD>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
NEONATAL ADRENOLEUKODYSTROPHY; ZELLWEGER SYNDROME; BLOOD SPOTS; CHAIN; COMPLEMENTATION; DEFICIENCY; EXCRETION; ACIDURIA;
Keywords:
peroxisomal disorders; organic acids; epoxydicarboxylic acid;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Yamaguchi, S Shimane Med Univ, Dept Pediat, 89-1 Ey Ya Cho, Izumo, Shimane6938501, Japan Shimane Med Univ 89-1 Ey Ya Cho Izumo Shimane Japan 6938501n
Citazione:
S. Yamaguchi et al., "Urinary organic acids in peroxisomal disorders: a simple screening method", J CHROMAT B, 758(1), 2001, pp. 81-86

Abstract

Using GC-MS, we studied urinary organic acids in 20 Japanese patients withperoxisomal disorders. including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy, and single deficiency of peroxisomal P-oxidation enzymes. Non-ketotic dicarboxylic aciduria with elevated sebacate/adipate molar ratio was observed in 19 of the 20 patients. Elevation of 2-hydroxysebacate and epoxydicarboxylic acids were seen in 13 and 18, respectively. Tyrosyluria was remarkable in all patients. In two ZS patients, we tracked the time course from birth to infancy, and all the above stated findings were detected, except for one sample. Urinary organic acid analysis is indeed useful for screening subjects with peroxisomal disorders. (C) 2001 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/09/20 alle ore 22:58:23