Results 131 to 140 of about 1,705 (212)

Reduced PPOX Expression Causes Intrinsic Pathogenicity in Keratinocytes, Contributing to the Cutaneous Variegate Porphyria Phenotype [PDF]

Christopher J. Smith, Ahmed Al-Salihi, Jack Williams, Li Chan, Louise Metherell   +4 more
openalex   +1 more source

From photosensitivity to autoimmunity: the role of AI metabolomics in PCT-celiac disease overlap. [PDF]

Ann Med Surg (Lond)
Ozukum ST, Wajahat K, Abdullah M, Khalid M, Waafira A.   +4 more
europepmc   +1 more source

Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis. [PDF]

, 2018
Aurizi, C, Barbieri, L, Caraci, P, Giachino, Df, Osella, G, Reimondo, G, Sirchia, F, Tabaro, I, Terzolo, M.   +8 more
core   +1 more source

Acute hepatic porphyrias. [PDF]

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

Recommendations for recognizing and diagnosing Acute Hepatic Porphyria in atypical patient populations. [PDF]

Orphanet J Rare Dis
Schmolly K, Rudrapatna V, Beaven S.
europepmc   +1 more source

Phototoxic Dermatitis [PDF]

, 2011
Gonçalo, Margarida
core  

Molecular epidemiological study of variegate porphyria (VP) to determine the frequency of the founder gene mutation in South Africa

, 2003
Adriaan Jacobus Koegelenberg
openalex   +1 more source

Hepatic Porphyria Presenting with Persistent Abdominal Pain: A Case Report and Literature Review. [PDF]

Iran J Pathol
Yu Y, Yu L, Li M, Ma M, Zhu Y, Shen J.
europepmc   +1 more source

Supplementary Material for: Haplotype Study in Argentinean Variegate Porphyria Patients

, 2016
Bárbara Xoana Granata, Victoria Estela Parera, Alcira Batlle, María Victoria Rossetti   +3 more
openalex   +2 more sources

Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report. [PDF]

J Med Case Rep
Schacht G, Elbracht M, Minder AE, Stauch T, Stoppe A, Lausberg E, Häusler M.   +6 more
europepmc   +1 more source