Results 141 to 150 of about 17,878 (259)

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

SIADH as an Underrecognized Manifestation of Porphyria-like Crises in Hereditary Tyrosinemia Type 1: Clinical and Pathophysiological Insights. [PDF]

Int J Mol Sci
Saraceno E, Serra I, Bracci B, Pagliardini V, Pinon M, Tuli G, Versace A, Bondone C, Spada M.   +8 more
europepmc   +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

How should we diagnose and manage photosensitivity? [PDF]

, 2014
Ibbotson, S.
core   +1 more source

Congenital Porphyria [PDF]

Proceedings of the Royal Society of Medicine, 1974
openaire   +2 more sources

Real-World Experience With Givosiran in Acute Porphyrias: A Narrative Review and a Novel Hypothesis. [PDF]

Cureus
Petrides PE.
europepmc   +1 more source

Psychiatric Presentation of Hereditary Coproporphyria with Coproporphyrinogen Oxidase Gene Mutation c.734 C>T: A Case Report. [PDF]

Noro Psikiyatr Ars
Şenel M, Çakmak IB, Gürkan Ş, Korkmaz ŞA, Çatlı B, Ceylan AC, Ürey GBC, Kasapkara ÇS, Göka E.   +8 more
europepmc   +1 more source

Toxicity of PBB's (BP-6) with special reference to porphyrinogenic action and spectral interaction with hepatic cytochrome P-450 [PDF]

, 1978
Strik, J.J.T.W.A.
core   +2 more sources

Pathogenesis and clinical management of liver damage in porphyrias: Mechanisms and therapeutic approaches. [PDF]

World J Hepatol
Zeng T, Huang SY, Chen JN, Pang JH, Chong YT, Li XH.   +5 more
europepmc   +1 more source

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

Genetics in Medicine, 2019
Brenden Chen, S. Whatley, M. Badminton, A. Aarsand, Karl E. Anderson, D. Bissell, Herbert. L. Bonkovsky, M. Cappellini, Y. Floderus, Edith C. H. Friesema, L. Gouya, P. Harper, R. Kauppinen, Yonina Loskove, P. Martásek, J. Phillips, H. Puy, S. Sandberg, Caroline Schmitt, J. To-Figueras, Yedidyah Weiss, Makiko Yasuda, J. Deybach, Robert J. Desnick   +23 more
semanticscholar   +1 more source