Results 61 to 70 of about 2,384 (181)

European S2k guidelines on management of autoimmune blistering diseases in children and adolescents

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 7, Page 1137-1161, July 2026.
Autoimmune blistering disorders (AIBDs) in children are rare, challenging to diagnose and treat and often require immunosuppressants. Until now, no paediatric care guidelines existed. The EADV Task Force for AIBDs has developed the consensus‐based recommendations, enabling physicians to adopt a uniform, tailored treatment strategy to improve outcomes ...
A. Nanda, B. Tedbirt, C. Bodemer, M. C. Bolling, M. El Hachem, M. Nikolić, E. Benton, M. Caproni, D. De, D. Didona, K. Drenovska, M. Goebeler, M. Hertl, B. Horváth, M. Kasperkiewicz, D. Kiritsi, M. Larralde, A. V. Marzano, J. Meijer, D. F. Murrell, J. Powell, E. Sprecher, N. S. Chandran, M. M. Tomayko, S. Uzun, N. van Beek, H. Ott, A. Patsatsi, A. Torrelo, A. Welfringer‐Morin, E. Schmidt, P. Joly   +31 more
wiley   +1 more source

La porfiria aguda intermitente y el cirujano: un reto diagnóstico Reporte de un caso y revisión de la literatura Acute intermittent porphyria and the surgeon: a diagnostic challenge. Case report and literature review

Revista Colombiana de Cirugía, 2011
La porfiria intermitente aguda es conocida, en el ámbito de la cirugía, como una de las causas de abdomen agudo no quirúrgico. No obstante, lo que no se menciona con frecuencia es la posibilidad de que cualquier procedimiento quirúrgico precipite un ...
Lilian Torregrosa, Juan Carlos Ayala, Sergio Cervera, Carlos Andrés Villa   +3 more
doaj  

Xenobiotics Triggering Acute Intermittent Porphyria and Their Effect on Mouse Brain Respiratory Complexes

Journal of Xenobiotics
Heme enzyme dysfunction causes a group of diseases called porphyrias. Particularly, a decrease in porphobilinogen deaminase, involved in the third step of heme biosynthesis, leads to acute intermittent porphyria (AIP).
Johanna Romina Zuccoli, María del Carmen Martínez, Pablo Vallecorsa, Ana María Buzaleh   +3 more
doaj   +1 more source

Porphyrin-Induced Protein Oxidation and Aggregation as a Mechanism of Porphyria-Associated Cell InjurySummary

Cellular and Molecular Gastroenterology and Hepatology, 2019
Genetic porphyrias comprise eight diseases caused by defects in the heme biosynthetic pathway that lead to accumulation of heme precursors. Consequences of porphyria include photosensitivity, liver damage and increased risk of hepatocellular carcinoma ...
Dhiman Maitra, Juliana Bragazzi Cunha, Jared S. Elenbaas, Herbert L. Bonkovsky, Jordan A. Shavit, M. Bishr Omary   +5 more
doaj   +1 more source

Diagnostic Dilemmas in Hepatitis C Virus Infection for Hemodialysis Patients

Folia Medica, 2017
Background: Hepatitis C virus (HCV) is a leading cause of chronic hepatitis in dialysis patients. The diagnosis of HCV infection in these patients is predominantly based on laboratory tests because of the specificity of the clinical course of the disease.
Komitova Radka T., Atanasova Maria V., Pavlova Toska A., Nyagolov Monica Sh., Ivanova Aneta V.   +4 more
doaj   +1 more source

Microelements and Inherited Metabolic Diseases

Acta Medica, 2002
In addition to the main groups of inherited metabolic diseases, including mitochondrial, peroxisomal and lysosomal defects, organic acidurias, porphyrias, defects of amino acids, saccharides and fatty acids metabolism, disorders of transport and ...
Eliška Marklová
doaj   +1 more source

THE ACUTE PORPHYRIAS

International Journal of Clinical Practice, 1993
SUMMARYThe porphyrias are a heterogeneous group of rare inborn errors of metabolism caused by inherited enzyme defects in the haem biosynthetic pathway, resulting in overproduction of porphyrins. The porphyrias can be distinguished biochemically but may be difficult to differentiate clinically.
G Y, Lip, K E, McColl, M R, Moore
openaire   +2 more sources

Acute Porphyria Presenting as Epilepsia Partialis Continua

Case Reports in Neurology, 2013
Purpose: The porphyrias are a defect in the biosynthesis of heme which can be associated with different neurological symptoms during acute attacks such as peripheral neuropathy, mental disturbance and seizures.
Thi Phuoc Yen Tran, Karine Leduc, Martin Savard, Nicolas Dupré, Donald Rivest, Dang Khoa Nguyen   +5 more
doaj   +1 more source

Acute porphyrias and porphyric neuropathy

Southwest Respiratory and Critical Care Chronicles, 2016
The porphyrias are a group of uncommon inherited metabolic disorders of heme biosynthesis. Acute porphyrias are specific types of porphyrias characterized by the presence of acute attacks that usually present with abdominal pain, psychiatric symptoms ...
Doungporn Ruthirago, Parunyou Julayanont, Supannee Rassameehiran   +2 more
doaj  

Variegate porphyria onset as neurovisceral manifestation and unusual sensory impairment distribution. Case report

Brain Disorders
Background: Acute hepatic porphyrias are heme metabolism disorders presenting with a broad clinical spectrum, including neurovisceral manifestations. Peripheral neuropathy is one of the most frequent complications in porphyrias and can correspond about ...
Lucas Grobério Moulim de Moraes, Caroline Colnago Demoner, Amanda Ambrosini Cipriano, Giselle Alves de Oliveira, Raphael de Paula Doyle Maia, Paula Zago Melo Dias, Mariana Lacerda Reis Grenfell, Renann Nunes Pirola, Marcelo Ramos Muniz   +8 more
doaj   +1 more source