Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Compound heterozygous hereditary coproporphyria with fluorescing teeth.

× No keyword cloud information.

6 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. A description of an HPLC assay of coproporphyrinogen III oxidase activity in mononuclear cells.

Authors: U Gross; R Gerlach; A Kühnel; V Seifert; M O Doss
Journal: J Inherit Metab Dis Date: 2003 Impact factor: 4.982

Review 3. 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

Review 4. Erythropoietic and hepatic porphyrias.

Authors: U Gross; G F Hoffmann; M O Doss
Journal: J Inherit Metab Dis Date: 2000-11 Impact factor: 4.982

5. 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

Review 6. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.

Authors: Makiko Yasuda; Brenden Chen; Robert J Desnick
Journal: Mol Genet Metab Date: 2018-11-30 Impact factor: 4.797

6 in total