Results 81 to 90 of about 3,279 (202)

Molecular characterization of porphyrias in Italy : a diagnostic flow-chart

, 2002
The porphyrias are disorders associated with inherited or acquired enzyme deficiencies in the heme biosynthetic pathway. The differential diagnosis is often difficult since the phenotype is very similar in some forms and the biochemical tests are not ...
E. Patti, F. Martinez di Montemuros, E. Rocchi, G. Biolcati, E. Di Pierro, M.D. Cappellini, D. Tavazzi, M. G. Danielli   +7 more
core   +2 more sources

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  

Drugs and acute porphyrias: reasons for a hazardous relationship

, 2014
The porphyrias are a group of metabolic diseases caused by inherited or acquired enzymatic deficiency in the metabolic pathway of heme biosynthesis. Simplistically, they can be considered as storage diseases, because the partial enzymatic defect gives ...
VENTURA, Paolo, Roveri, Giulia, ROCCHI, Emilio, Nascimbeni, Fabio   +3 more
core   +1 more source

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

Fotossensibilidade amplificada? Relato de porfiria cutânea tarda associada a lúpus eritematoso sistêmico

Revista Brasileira de Reumatologia
A associação de porfiria cutânea tarda (PCT) e lúpus eritematoso sistêmico (LES) é rara. O LES, de fisiopatologia complexa e manifestações clínicas pleomórficas, assemelha-se à PCT pela fotossensibilidade.
Scheila Fritsch, Adma Silva de Lima Wojcik, Lilian Schade, Milton Marcio Machota Junior, Fabiane Mulinari Brenner, Eduardo dos Santos Paiva   +5 more
doaj  

Primary Porphyrias

Bakalářská práce se zabývá onemocněním zvaným porfyrie, které je způsobené poruchou funkce jednoho z osmi enzymů v biosyntetické dráze hemu. V úvodu je krátce popsána historie tohoto onemocnění následovaná popisem biosyntézy hemu. Stěžejní část práce
Jiráčková, Klára
core   +1 more source

Non frequent porphyrias in the argentinean population [PDF]

, 2006
Las Porfirias son consecuencia de fallas en el metabolismo del Hemo. Se clasifican según el tipo de sintomatología clínica prevalente o el órgano donde se expresa preferencialmente la falla metabólica.
Rossetti, Maria Victoria, Melito, Viviana Alicia, Parera, Victoria Estela, Batlle, Alcira María del C.   +3 more
core   +2 more sources

The Acute Porphyrias: a diagnostic and theraputic challenge in internal and emergency medicine

, 2009
The porphyrias are a heterogeneous group ofmetabolic diseases resulting from a variable catalytic defectof one of the eight enzymes involved in the heme biosynthesispathway; they are mostly inherited diseases, but insome circumstances the metabolic ...
E. Rocchi, Maria Domenica Cappellini, VENTURA, Paolo, P. Ventura, M.D. Cappellini, ROCCHI, Emilio, M. D. Cappellini, Emilio Rocchi, Paolo Ventura   +8 more
core   +1 more source

ACUTE PORPHYRIA [PDF]

The Lancet, 1947
C H, GRAY, C, RIMINGTON
openaire   +6 more sources

The Porphyrias [PDF]

Dermatology, 2009
openaire   +2 more sources