Results 81 to 90 of about 2,338 (181)

Updates to gene-disease classifications and inheritance patterns for porphyrias. [PDF]

Mol Genet Metab
Reeves EB, Hankey W, Clair PS, Goldstein JL, Wilke MVMB, Feigenbaum A, Hung C, Spector E, Craigen WJ.   +8 more
europepmc   +1 more source

Homozygous variegate porphyria: Two cases misdiagnosed as erythropoietic protoporphyria. [PDF]

Mol Genet Metab Rep
Wang C, Bensaber N, Rebeiz L, Tran B, Tortorelli S, Kyle K, Yalom LK, Moghe A, Anderson KE, Leaf RK, Yeung AK.   +10 more
europepmc   +1 more source

Aminolevulinate inhibition of human coproporphyrinogen oxidase clarifies coproporphyrin III accumulation in porphyrias. [PDF]

Biosci Rep
Schedlbauer A, Kratzwald S, Gómez-Galán M, Gil-Martínez J, San Juan I, Pereira-Ortuzar T, Lopitz-Otsoa F, Fernandez-Ramos D, Mato JM, Millet O.   +9 more
europepmc   +1 more source

Monogenic Syndromes as a Cause of Adverse Drug Reactions in the Russian Population. [PDF]

Int J Mol Sci
Buianova AA, Cheranev VV, Shmitko AO, Vasiliadis IA, Samitova AF, Suchalko ON, Repinskaia ZA, Kuznetsov MI, Belova VA, Korostin DO.   +9 more
europepmc   +1 more source

Acute Intermittent Porphyria Mimicking Severe Coprostasis in a Patient on Opioid Maintenance Therapy. [PDF]

Eur J Case Rep Intern Med
Glatzle C, Gerstendörfer F, Arpagaus A, Gössi F.   +3 more
europepmc   +1 more source

Hydroa Vacciniforme: When and How to Suspect It. [PDF]

Clin Cosmet Investig Dermatol
Yang C, Zhu R.
europepmc   +1 more source

The porphyrias [PDF]

Photodermatology, Photoimmunology & Photomedicine, 2002
openaire   +2 more sources

Acute hepatic porphyrias. [PDF]

Porto Biomed J
Marques I, Marcos P.
europepmc   +1 more source

The Inheritance of Porphyria [PDF]

BMJ, 1955
G, DEAN, H D, BARNES
openaire   +2 more sources

Porphyrias: Pathophysiology and clinical management recommendations for hepatologists. [PDF]

Hepatol Commun
Ricci A, Corradini E, Buzzetti E, Pietrangelo A, Pietrangelo A, Ventura P, Modena Centre of Rare Diseases - Porphyria Working Group.   +6 more
europepmc   +1 more source