Literature DB >> 74745

Homozygous case of hereditary coproporphyria.

B Grandchamp, N Phung, Y Nordmann.   

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Year:  1977        PMID： 74745     DOI： 10.1016/s0140-6736(77)90386-5

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  11 in total

1.  Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.

Authors:  J Lamoril; H Puy; S D Whatley; C Martin; J R Woolf; V Da Silva; J C Deybach; G H Elder
Journal:  Am J Hum Genet       Date:  2001-04-16       Impact factor: 11.025

2.  Chester porphyria: a clinical study of a new form of acute porphyria.

Authors:  M R Qadiri; S E Church; K E McColl; M R Moore; G R Youngs
Journal:  Br Med J (Clin Res Ed)       Date:  1986-02-15

3.  Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria.

Authors:  Kosei Hasegawa; Hiroyuki Tanaka; Miho Yamashita; Yousuke Higuchi; Takayuki Miyai; Junko Yoshimoto; Ayumi Okada; Norihiro Suzuki; Keiji Iwatsuki; Hirokazu Tsukahara
Journal:  JIMD Rep       Date:  2017-03-28

Review 4.  Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.

Authors:  Makiko Yasuda; Robert J Desnick
Journal:  Mol Genet Metab       Date:  2019-01-18       Impact factor: 4.797

5.  Structural basis of hereditary coproporphyria.

Authors:  Dong-Sun Lee; Eva Flachsová; Michaela Bodnárová; Borries Demeler; Pavel Martásek; C S Raman
Journal:  Proc Natl Acad Sci U S A       Date:  2005-09-21       Impact factor: 11.205

Review 6.  Hepatic porphyrias in children.

Authors:  G H Elder
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

7.  Harderoporphyria: a variant hereditary coproporphyria.

Authors:  Y Nordmann; B Grandchamp; H de Verneuil; L Phung; B Cartigny; G Fontaine
Journal:  J Clin Invest       Date:  1983-09       Impact factor: 14.808

8.  Homozygote for Huntington disease.

Authors:  R H Myers; J Leavitt; L A Farrer; J Jagadeesh; H McFarlane; C A Mastromauro; R J Mark; J F Gusella
Journal:  Am J Hum Genet       Date:  1989-10       Impact factor: 11.025

9.  Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.

Authors:  Alev Hasanoglu; Manisha Balwani; Ciğdem S Kasapkara; Fatih S Ezgü; Ilyas Okur; Leyla Tümer; Alpay Cakmak; Irina Nazarenko; Chunli Yu; Sonia Clavero; David F Bishop; Robert J Desnick
Journal:  J Inherit Metab Dis       Date:  2010-11-20       Impact factor: 4.982

10.  Bovine protoporphyria: documentation of autosomal recessive inheritance and comparison with the human disease through measurement of heme synthase activity.

Authors:  J R Bloomer; K O Morton; R J Reuter; G R Ruth
Journal:  Am J Hum Genet       Date:  1982-03       Impact factor: 11.025
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