PMC Articles for MedGen (Select 341399) - PMC

Select item 48761391.

A pilot study on the incidence of severe photosensitivity reactions leading to hospitalization linked to topical ketoprofen and other medications in selected European regions

Simone Cazzaniga, Luigi Naldi, Silvia Lecchi, Marie‐Laure Kürzinger, Laurent Auclert, Mario Gori, Olivier Chosidow, Jana Hercogova

Pharmacol Res Perspect. 2016 Jun; 4(3): e00225. Published online 2016 Apr 27. doi: 10.1002/prp2.225

PMCID:: PMC4876139

Article PDF–285K

Select item 37576162.

Severe photosensitivity reaction induced by topical diclofenac

Pramod B. Akat

Indian J Pharmacol. 2013 Jul-Aug; 45(4): 408–409. doi: 10.4103/0253-7613.114999

PMCID:: PMC3757616

Article

Select item 81001643.

Acitretin mitigates uroporphyrin-induced bone defects in congenital erythropoietic porphyria models

Juliana Bragazzi Cunha, Jared S. Elenbaas, Dhiman Maitra, Ning Kuo, Rodrigo Azuero-Dajud, Allison C. Ferguson, Megan S. Griffin, Stephen I. Lentz, Jordan A. Shavit, M. Bishr Omary

Sci Rep. 2021; 11: 9601. Published online 2021 May 5. doi: 10.1038/s41598-021-88668-9

PMCID:: PMC8100164

Article PDF–4.0M

Select item 63694494.

Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria

Arienne Mirmiran, Caroline Schmitt, Thibaud Lefebvre, Hana Manceau, Raêd Daher, Vincent Oustric, Antoine Poli, Jean-Jacques Lacapère, Boualem Moulouel, Hervé Puy, Zoubida Karim, Katell Peoc'h, Hugo Lenglet, Sylvie Simonin, Jean-Charles Deybach, Gaël Nicolas, Laurent Gouya

Am J Hum Genet. 2019 Feb 7; 104(2): 341–347. Published online 2019 Jan 31. doi: 10.1016/j.ajhg.2018.12.021

PMCID:: PMC6369449

Article PDF–1.1M

Select item 36460945.

Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria

Manisha Balwani, Dana Doheny, David F Bishop, Irina Nazarenko, Makiko Yasuda, Harry A Dailey, Karl E Anderson, D Montgomery Bissell, Joseph Bloomer, Herbert L Bonkovsky, John D Phillips, Lawrence Liu, Robert J Desnick

Mol Med. 2013; 19(1): 26–35. Published online 2013 Jan 28. doi: 10.2119/molmed.2012.00340

PMCID:: PMC3646094

Article PDF–4.6M

Select item 14128596.

`Erythropoietic' protoporphyria and cirrhosis in sisters

R. P. H. Thompson, E. A. Molland, D. C. Nicholson, C. H. Gray

Gut. 1973 Dec; 14(12): 934–938. doi: 10.1136/gut.14.12.934

PMCID:: PMC1412859

Summary Page Browse PDF–1.7M

Select item 10513667.

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.

A K Ryan, K Bartlett, P Clayton, S Eaton, L Mills, D Donnai, R M Winter, J Burn

J Med Genet. 1998 Jul; 35(7): 558–565. doi: 10.1136/jmg.35.7.558

PMCID:: PMC1051366

Summary Page Browse PDF–2.1M

Select item 1485048.

Cells from XP-D and XP-D-CS patients exhibit equally inefficient repair of UV-induced damage in transcribed genes but different capacity to recover UV-inhibited transcription.

A van Hoffen, W H Kalle, A de Jong-Versteeg, A R Lehmann, A A van Zeeland, L H Mullenders

Nucleic Acids Res. 1999 Jul 15; 27(14): 2898–2904. doi: 10.1093/nar/27.14.2898

PMCID:: PMC148504

Summary PDF–269K

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