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Titolo:
Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism
Autore:
Takeuchi, H; Kondo, M; Daimon, M; Susa, S; Ueoka, K; Uemura, O; Togari, H;
Indirizzi:
Nagoya Daini Red Cross Hosp, Dept Pediat, Showa Ku, Nagoya, Aichi 4668650,Japan Nagoya Daini Red Cross Hosp Nagoya Aichi Japan 4668650 ichi 4668650,Japan Nagoya Daini Red Cross Hosp, Dept Pediat Urol, Nagoya, Aichi 4668650, Japan Nagoya Daini Red Cross Hosp Nagoya Aichi Japan 4668650 chi 4668650, Japan Natl Inst Publ Hlth, Dept Biochem & Nutr, Tokyo, Japan Natl Inst Publ Hlth Tokyo Japan Hlth, Dept Biochem & Nutr, Tokyo, Japan Yamagata Univ, Sch Med, Dept Internal Med 3, Yamagata 990, Japan Yamagata Univ Yamagata Japan 990 ept Internal Med 3, Yamagata 990, Japan Nagoya City Univ, Dept Pediat, Nagoya, Aichi, Japan Nagoya City Univ Nagoya Aichi Japan v, Dept Pediat, Nagoya, Aichi, Japan
Titolo Testata:
BLOOD
fascicolo: 13, volume: 98, anno: 2001,
pagine: 3871 - 3873
SICI:
0006-4971(200112)98:13<3871:NHCWMP>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
CONGENITAL ERYTHROPOIETIC PORPHYRIA; OXIDASE GENE; HARDEROPORPHYRIA; MUTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Takeuchi, H Nagoya Daini Red Cross Hosp, Dept Pediat, Showa Ku, 2-9 Myokencho, Nagoya,Aichi 4668650, Japan Nagoya Daini Red Cross Hosp 2-9 Myokencho Nagoya Aichi Japan 4668650
Citazione:
H. Takeuchi et al., "Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism", BLOOD, 98(13), 2001, pp. 3871-3873

Abstract

The appearance of hereditary coproporphyria (HCP) before puberty is very rare, and all reported cases of early-onset HCP have been in the homozygous or the compound heterozygous state. Some have been identified as harderoporphyria, which is a rare erythropoietic variant form of HCP. These conditions can be differentiated by molecular analysis because the gene abnormality responsible for harderoporphyria seems to be unique (K404E). Early-onset HCP, not harderoporphyria, is reported with a gene mutation in the heterozygous state and male pseudohermaphrodism. It was shown that adrenal gland hypofunction resulted in male pseudohermaphrodism. This case demonstrates the possibility that abnormalities of steroid metabolism influence porphyria. (C) 2001 by The American Society of Hematology.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/03/20 alle ore 22:49:04