Results 31 to 40 of about 16,235 (263)

SUBACUTE CUTANEOUS LUPUS ERYTHEMATOSUS WITH PSEUDO-PORPHYRIA AND VITILIGO

Journal of Nepal Medical Association, 2003
Sub acute Cutaneous Lupus Erythematosus (SCLE) is a distinct subset of Lupus Erythematosus. It can present as non scarring psoriasiform or annular polycyclic lesions.
H Sripathi, M Dahal, A Basu
doaj   +1 more source

Spotlight on zebrafish:translational impact [PDF]

, 2014
In recent years, the zebrafish has emerged as an increasingly prominent model in biomedical research. To showcase the translational impact of the model across multiple disease areas, Disease Models & Mechanisms has compiled a Special Issue that includes ...
Amatruda, James F, Dhillon, Paraminder, Patton, E Elizabeth, Ramakrishnan, Lalita   +3 more
core   +2 more sources

Acute Intermittent Porphyria in Childhood Presenting with Hypertensive Emergency and Posterior Reversible Encephalopathy Syndrome

Journal of Pediatric Critical Care, 2016
Acute intermittent porphyria is an inherited metabolic disease due to deficiency of the enzyme porphobilinogen deaminase that can affect the autonomic, peripheral and central nervous system.
Rishab Bharadwaj, Pallavi P Dagli, Aasheeta S Shah   +2 more
doaj   +1 more source

Delivering efficient liver-directed AAV-mediated gene therapy. [PDF]

, 2017
Adeno-associated virus vectors (AAV) have become the leading technology for liver-directed gene therapy. After the pioneering trials using AAV2 and AAV8 to treat haemophilia B, D’Avola et al.
Alexander, IE, Baruteau, J, Gissen, P, Waddington, SN   +3 more
core   +1 more source

Acute Intermittent Porphyria: Pathophysiology and Treatment [PDF]

, 1984
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/90337/1/j.1875-9114.1984.tb03340.x ...
Anderson, Badawy, Battersby, Berman, Bickers, Bonkowsky, Bonkowsky, Bonkowsky, Bonkowsky, Bonkowsky, Bottomley, Cavanagh, Cowger, Dhar, Dhar, Disler, Doss, Douer, Eales, Eales, Elsman, Eyck, Felsher, Giger, Granick, Granick, Hanstein, Hellman, Heubel, Kappas, Kappas, Lamon, Lamon, Liem, Ludwig, Magnussen, Magnussen, Massey, Matteis, Mauzerall, McColl, McColl, Menawat, Moore, Moore, Morris, Muller-Eberhard, Muller-Eberhard, Muller-Eberhard, Mustajoki, Nielsen, Nyman, Ohnhaus, Parikh, Pass, Perlroth, Peterson, Reynolds, Ridley, Rifkind, Rizk, Rose, Snyder, Stein, Strand, Sweeny, Tait, Treece, Tschudy, Tschudy, Tschudy, Verneuil, Watson, Watson, Watson, Welland, Wetterberg   +76 more
core   +1 more source

Interpreting iron studies [PDF]

, 2017
No abstract ...
Kelly, Alison U., McSorley, Stephen T., Patel, Prinesh, Talwar, Dinesh   +3 more
core   +1 more source

Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report

Anais da Academia Brasileira de Ciências, 2013
Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen.
ANNA R.R. DOS SANTOS, RAFAELA R. DE ALBUQUERQUE, MARIA J.R. DORIQUI, GRACIOMAR C. COSTA, ANA PAULA S.A. DOS SANTOS   +4 more
doaj   +1 more source

Acute hepatic porphyria - classification, diagnosis and treatment

Journal of Education, Health and Sport, 2022
Porphyrias belong to the group of inherited metabolic diseases. Each of the four types of acute hepatic porphyria is caused by a different mutation in the gene of an enzyme involved in the heme biosynthetic pathway. The literature distinguishes between:
Aleksandra Czekaj, Kinga Ruszel, Robert Dubel, Julia Dubel, Natalia Namroży   +4 more
doaj   +1 more source

Psychiatric Symptoms in Acute Intermittent Porphyria - Case Report and Course of Treatment Using Placebo

Journal of Education, Health and Sport
Introduction: Acute intermittent porphyria is a disease inherited in an autosomal dominant manner, occurring with a frequency of 1:75,000 people.
Waldemar Kosiba, Dominika Prystacka-Szar, Jakub Siemko, Wojciech Kupczak   +3 more
doaj   +1 more source

Reversible Cerebral Vasospasm in Acute Intermittent Porphyria: A Case Report and Review of the Literature

European Journal of Case Reports in Internal Medicine, 2022
The porphyrias are rare inherited diseases of heme biosynthesis which can involve the nervous system. The most common neurological manifestations of acute intermittent porphyria are autonomic visceral neuropathy, peripheral motor neuropathy, and central ...
Attout Hassene, Stephane Guez
doaj   +1 more source