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28 in total

1. Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.

Authors: Yedidyah Weiss; Brenden Chen; Makiko Yasuda; Irina Nazarenko; Karl E Anderson; Robert J Desnick
Journal: Mol Genet Metab Date: 2018-11-28 Impact factor: 4.797

2. [Laboratory tests and therapeutic strategies for the porphyrias].

Authors: P Poblete-Gutiérrez; T Wiederholt; H F Merk; J Frank
Journal: Hautarzt Date: 2006-06 Impact factor: 0.751

3. Congenital erythropoietic porphyria: anesthetic implications.

Authors: Mritunjay Kumar; Somnath Bose; Vanlal Darlong; Jyotsna Punj
Journal: J Anesth Date: 2009-11-18 Impact factor: 2.078

4. Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria.

Authors: Daniel N Egan; Zhantao Yang; John Phillips; Janis L Abkowitz
Journal: Blood Date: 2015-05-13 Impact factor: 22.113

5. Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation.

Authors: Sonia Clavero; David F Bishop; Urs Giger; Mark E Haskins; Robert J Desnick
Journal: Mol Med Date: 2010-05-12 Impact factor: 6.354

6. Unusual case of hypertrichosis.

Authors: Rajeev Philip; Saran Sanjay; Gutch Manish; Gupta Keshavkumar
Journal: Int J Trichology Date: 2013-04

7. Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R.

Authors: Arola Fortian; Esperanza González; David Castaño; Juan M Falcon-Perez; Oscar Millet
Journal: J Biol Chem Date: 2011-02-22 Impact factor: 5.157

8. Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2.

Authors: Sharon S Cooperman; Esther G Meyron-Holtz; Hayden Olivierre-Wilson; Manik C Ghosh; Joseph P McConnell; Tracey A Rouault
Journal: Blood Date: 2005-04-14 Impact factor: 22.113

9. Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.

Authors: David F Bishop; Xiaoye Schneider-Yin; Sonia Clavero; Han-Wook Yoo; Elisabeth I Minder; Robert J Desnick
Journal: Blood Date: 2009-11-24 Impact factor: 22.113

10. Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.

Authors: David F Bishop; Annika Johansson; Robert Phelps; Amr A Shady; Maria C M Ramirez; Makiko Yasuda; Andres Caro; Robert J Desnick
Journal: Am J Hum Genet Date: 2006-02-09 Impact factor: 11.025