Results 141 to 150 of about 13,719 (226)

Congenital Porphyria [PDF]

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

Letter to the Editor – Qualitative evidence submitted by patients to NICE: need for more quality or unrealistic and unfair requirements?

Journal of Comparative Effectiveness Research
Rocco Falchetto, Jasmin Barman-Aksözen
doaj   +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

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

Epidemiological characteristics and natural history of porphyria - a twenty-year population-based analysis in Taiwan. [PDF]

Orphanet J Rare Dis
Wu WC, Yeh YH, Li CC, Wang YT, Chang YF, Chang CS, Wang RH, Wang JD, Kuo HC, Chen CH, Wu CH.   +10 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

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

Acute Necrotizing Pancreatitis Secondary to Acute Intermittent Porphyria: A Rare Clinical Association. [PDF]

ACG Case Rep J
Wali S, Pandey WCG, Gutte S, Srinivasan VM, Gurjar M.   +4 more
europepmc   +1 more source

Claw hands in acute intermittent porphyria. [PDF]

Oxf Med Case Reports
Wang JD, Chou CT.
europepmc   +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