{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T13:45:29Z","timestamp":1766065529090},"reference-count":21,"publisher":"American Society of Hematology","issue":"13","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2001,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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.<\/jats:p>","DOI":"10.1182\/blood.v98.13.3871","type":"journal-article","created":{"date-parts":[[2002,10,28]],"date-time":"2002-10-28T20:44:12Z","timestamp":1035837852000},"page":"3871-3873","update-policy":"http:\/\/dx.doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":10,"title":["Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism"],"prefix":"10.1182","volume":"98","author":[{"given":"Harue","family":"Takeuchi","sequence":"first","affiliation":[{"name":"From Department of Pediatrics and the Department of Pediatric Urology, Nagoya Daini Red Cross Hospital, Japan; the Department of Nutrition and Biochemistry, National Institute of Public Health, Tokyo, Japan; the Third Department of Internal Medicine, Yamagata University School of Medicine, Japan; and the Department of Pediatrics, Nagoya City University, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masao","family":"Kondo","sequence":"additional","affiliation":[{"name":"From Department of Pediatrics and the Department of Pediatric Urology, Nagoya Daini Red Cross Hospital, Japan; the Department of Nutrition and Biochemistry, National Institute of Public Health, Tokyo, Japan; the Third Department of Internal Medicine, Yamagata University School of Medicine, Japan; and the Department of Pediatrics, Nagoya City University, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makoto","family":"Daimon","sequence":"additional","affiliation":[{"name":"From Department of Pediatrics and the Department of Pediatric Urology, Nagoya Daini Red Cross Hospital, Japan; the Department of Nutrition and Biochemistry, National Institute of Public Health, Tokyo, Japan; the Third Department of Internal Medicine, Yamagata University School of Medicine, Japan; and the Department of Pediatrics, Nagoya City University, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Susa","sequence":"additional","affiliation":[{"name":"From Department of Pediatrics and the Department of Pediatric Urology, Nagoya Daini Red Cross Hospital, Japan; the Department of Nutrition and Biochemistry, National Institute of Public Health, Tokyo, Japan; the Third Department of Internal Medicine, Yamagata University School of Medicine, Japan; and the Department of Pediatrics, Nagoya City University, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsuhiko","family":"Ueoka","sequence":"additional","affiliation":[{"name":"From Department of Pediatrics and the Department of Pediatric Urology, Nagoya Daini Red Cross Hospital, Japan; the Department of Nutrition and Biochemistry, National Institute of Public Health, Tokyo, Japan; the Third Department of Internal Medicine, Yamagata University School of Medicine, Japan; and the Department of Pediatrics, Nagoya City University, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Uemura","sequence":"additional","affiliation":[{"name":"From Department of Pediatrics and the Department of Pediatric Urology, Nagoya Daini Red Cross Hospital, Japan; the Department of Nutrition and Biochemistry, National Institute of Public Health, Tokyo, Japan; the Third Department of Internal Medicine, Yamagata University School of Medicine, Japan; and the Department of Pediatrics, Nagoya City University, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hajime","family":"Togari","sequence":"additional","affiliation":[{"name":"From Department of Pediatrics and the Department of Pediatric Urology, Nagoya Daini Red Cross Hospital, Japan; the Department of Nutrition and Biochemistry, National Institute of Public Health, Tokyo, Japan; the Third Department of Internal Medicine, Yamagata University School of Medicine, Japan; and the Department of Pediatrics, 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