Results 101 to 110 of about 1,644 (213)

Hepatic porphyrias. [PDF]

British medical journal, 1971
openaire   +3 more sources

P024: Next generation sequencing in the diagnosis of acute hepatic porphyrias (AHP): Unraveling the molecular basis of AHP in Brazilian patients

Genetics in Medicine Open, 2023
Charles Lourenco, Amadeu Queiroz, Regina Albuquerque, Lilian Sansao, Jacqueline Fonseca   +4 more
doaj   +1 more source

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

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

, 1978
Strik, J.J.T.W.A., J J Strik
core   +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

Probable Acute Hepatic Porphyria Diagnosed Using Urinary Porphyrin Spectrophotometry in a Resource-Limited Setting: A Case Report. [PDF]

Cureus
Thanigasalan M.
europepmc   +1 more source

European Porphyria Initiative (EPI): A platform to develop a common approach to the management of porphyrias and to promote research in the field

, 2005
Porphyrias are uncommon inherited diseases of haem biosynthesis for which the diagnosis and treatment varies in individual countries. Despite the existence of guidelines recommended by porphyria experts concerning the diagnosis and management of the ...
S. Parker, Deybach, J.-Ch., J. -ch. Deybach, Thunell, S., S. Sandberg, H. Puy, P. Harper, Sandberg, S., Parker, S., Minder, E., M. Badminton, J. Frank, P. Martasek, Puy, H., E. Minder, S. Thunell, Harper, P., Elder, Grahame J., Frank, Jorge, Martasek, P., G. Elder, Badminton, M.   +21 more
core  

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

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

18 | Porphyria cutanea tarda, hepatitis c, and hepatic hemosiderosis

Geriatric Care
Porphyrias are a group of disorders of heme biosynthesis, each characterized by an enzymatic defect in the heme biosynthetic pathway. The pathogenesis of Porphyria Cutanea Tarda involves a hepatic deficiency of uroporphyrinogen decarboxylase (UROD ...
Segreteria SIGOT
doaj