{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T15:53:58Z","timestamp":1765382038672},"publisher-location":"Berlin, Heidelberg","reference-count":17,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"type":"print","value":"9783662563588"},{"type":"electronic","value":"9783662563595"}],"license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017]]},"DOI":"10.1007\/8904_2017_20","type":"book-chapter","created":{"date-parts":[[2017,3,27]],"date-time":"2017-03-27T20:49:27Z","timestamp":1490647767000},"page":"99-106","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria"],"prefix":"10.1007","author":[{"given":"Kosei","family":"Hasegawa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miho","family":"Yamashita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yousuke","family":"Higuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takayuki","family":"Miyai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junko","family":"Yoshimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayumi","family":"Okada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norihiro","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiji","family":"Iwatsuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirokazu","family":"Tsukahara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,3,28]]},"reference":[{"key":"20_CR1","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1093\/hmg\/3.8.1325","volume":"3","author":"MH Delfau-Larue","year":"1994","unstructured":"Delfau-Larue MH, Martasek P, Grandchamp B (1994) Coproporphyrinogen oxidase: gene organization and description of a mutation leading to exon 6 skipping. Hum Mol Genet 3:1325\u20131330","journal-title":"Hum Mol Genet"},{"key":"20_CR2","first-page":"781","volume-title":"Pediatric endocrinology: mechanisms, manifestations, and management","author":"FB Diamond Jr","year":"2004","unstructured":"Diamond FB Jr, Bercu BB (2004) Normative laboratory results. In: Eugster EA, Pescovitz OH (eds) Pediatric endocrinology: mechanisms, manifestations, and management. Lippincott Williams & Wilkins, Philadelphia, pp 781\u2013823"},{"key":"20_CR3","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1016\/S0140-6736(76)91143-0","volume":"2","author":"GH Elder","year":"1976","unstructured":"Elder GH, Evans JO, Thomas N (1976) The primary enzyme defect in hereditary coproporphyria. Lancet 2:1217\u20131219","journal-title":"Lancet"},{"key":"20_CR4","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1042\/bj1690215","volume":"169","author":"GH Elder","year":"1978","unstructured":"Elder GH, Evans JO, Jackson JR, Jackson AH (1978) Factors determining the sequence of oxidative decarboxylation of the 2- and 4-propionate substituents of coproporphyrinogen III by coproporphyrinogen oxidase in rat liver. Biochem J 169:215\u2013223","journal-title":"Biochem J"},{"key":"20_CR5","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1016\/0006-291X(77)91630-8","volume":"74","author":"B Grandchamp","year":"1977","unstructured":"Grandchamp B, Nordmann Y (1977) Decreased lymphocyte coproporphyrinogen III oxidase activity in hereditary coproporphyria. Biochem Biophys Res Commun 74:1089\u20131095","journal-title":"Biochem Biophys Res Commun"},{"key":"20_CR6","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1016\/S0140-6736(77)90386-5","volume":"2","author":"B Grandchamp","year":"1977","unstructured":"Grandchamp B, Phung N, Nordmann Y (1977) Homozygous case of hereditary coproporphyria. Lancet 2:1348\u20131349","journal-title":"Lancet"},{"key":"20_CR7","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/S0140-6736(05)70154-9","volume":"365","author":"R Kauppinen","year":"2005","unstructured":"Kauppinen R (2005) Porphyrias. Lancet 365:241\u2013252","journal-title":"Lancet"},{"key":"20_CR8","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1093\/jb\/mvt086","volume":"154","author":"DH Kim","year":"2013","unstructured":"Kim DH, Hino R, Adachi Y, Kobori A, Taketani S (2013) The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria. J Biochem 154:551\u2013559","journal-title":"J Biochem"},{"key":"20_CR9","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/S0009-9120(00)00159-4","volume":"33","author":"A Kuhnel","year":"2000","unstructured":"Kuhnel A, Gross U, Doss MO (2000) Hereditary coproporphyria in Germany: clinical-biochemical studies in 53 patients. Clin Biochem 33:465\u2013473","journal-title":"Clin Biochem"},{"key":"20_CR10","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1093\/hmg\/4.2.275","volume":"4","author":"J Lamoril","year":"1995","unstructured":"Lamoril J, Martasek P, Deybach JC, Da Silva V, Grandchamp B, Nordmann Y (1995) A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. Hum Mol Genet 4:275\u2013278","journal-title":"Hum Mol Genet"},{"key":"20_CR11","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1182\/blood.V91.4.1453","volume":"91","author":"J Lamoril","year":"1998","unstructured":"Lamoril J, Puy H, Gouya L et al (1998) Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis. Blood 91:1453\u20131457","journal-title":"Blood"},{"key":"20_CR12","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1093\/hmg\/3.3.477","volume":"3","author":"P Martasek","year":"1994","unstructured":"Martasek P, Nordmann Y, Grandchamp B (1994) Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. Hum Mol Genet 3:477\u2013480","journal-title":"Hum Mol Genet"},{"key":"20_CR13","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/S0140-6736(77)91725-1","volume":"1","author":"Y Nordmann","year":"1977","unstructured":"Nordmann Y, Grandchamp B, Phung N, de Verneuil H, Grelier M, Neire J (1977) Coproporphyrinogen-oxidase deficiency in hereditary coproporphyria. Lancet 1:140","journal-title":"Lancet"},{"key":"20_CR14","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1172\/JCI111039","volume":"72","author":"Y Nordmann","year":"1983","unstructured":"Nordmann Y, Grandchamp B, de Verneuil H, Phung L, Cartigny B, Fontaine G (1983) Harderoporphyria: a variant hereditary coproporphyria. J Clin Invest 72:1139\u20131149","journal-title":"J Clin Invest"},{"key":"20_CR15","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1016\/S0140-6736(09)61925-5","volume":"375","author":"H Puy","year":"2010","unstructured":"Puy H, Gouya L, Deybach JC (2010) Porphyrias. Lancet 375:924\u2013937","journal-title":"Lancet"},{"key":"20_CR16","doi-asserted-by":"crossref","first-page":"3089","DOI":"10.1093\/hmg\/ddi342","volume":"14","author":"C Schmitt","year":"2005","unstructured":"Schmitt C, Gouya L, Malonova E et al (2005) Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria. Hum Mol Genet 14:3089\u20133098","journal-title":"Hum Mol Genet"},{"key":"20_CR17","doi-asserted-by":"crossref","first-page":"3871","DOI":"10.1182\/blood.V98.13.3871","volume":"98","author":"H Takeuchi","year":"2001","unstructured":"Takeuchi H, Kondo M, Daimon M et al (2001) Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism. Blood 98:3871\u20133873","journal-title":"Blood"}],"container-title":["JIMD Reports","JIMD Reports, Volume 37"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2017_20","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,4]],"date-time":"2020-10-04T12:29:07Z","timestamp":1601814547000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2017_20"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"ISBN":["9783662563588","9783662563595"],"references-count":17,"URL":"https:\/\/doi.org\/10.1007\/8904_2017_20","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"type":"print","value":"2192-8304"},{"type":"electronic","value":"2192-8312"}],"subject":[],"published":{"date-parts":[[2017]]}}}