Results 71 to 80 of about 4,129 (167)

Acute intermittent porphyria (case report) [PDF]

, 2019
This article considersand analyzes clinical case of acute intermittent porphyria. There is some theoretical pathophysiological substantiation of the most common approaches to therapy of acute intermittent porphyria.В данной статье представлен клинический
Дмитриев, А. Н., Kovzel, V. A., Dmitriev, A. N., Ковзель, В. А.   +3 more
core  

Acute Intermittent Porphyria in a Burn Patient: Case Study and Review of the Literature.

, 2023
Healthcare providers evaluating patients presenting with neurological, visceral, or cutaneous symptoms that are disproportionate to the expected severity may need to consider porphyria in the differential.
Bharadia, Deepak, MD, Credo, Roald, Kesey, Jennifer, Griswold, John, Pang, Alan   +4 more
core  

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Women with acute intermittent porphyria have a defect in 5α-steroid production during the menstrual cycle

, 2012
Objective. To measure serum concentrations of progesterone, estradiol and 5 alpha- and 5 beta-reduced progesterone metabolites in the follicular and luteal phases of the menstrual cycle in women with latent acute intermittent porphyria and manifest acute
EVA INNALA, INGER SUNDSTRÖM POROMAA, Innala, Eva,, Andersson, Christer,, Bäckström, Torbjörn,, MARIE BIXO, Bixo, Marie,, Sundström Poromaa, Inger,, TORBJÖRN BÄCKSTRÖM, CHRISTER ANDERSSON   +9 more
core   +1 more source

Porfiria aguda intermitente: relato de caso e revisão da literatura Acute intermittent porphyria: case report and review of the literature

Revista Brasileira de Terapia Intensiva, 2008
Porfiria aguda intermitente é patologia incomum, com conseqüências potencialmente graves se não reconhecida precocemente. Dentre as possíveis causas de indução de crises de porfiria, a redução da ingestão calórica é descrita na literatura.
Daniela von Ah Lopes, Marcelo Araújo do Valle, Jéfferson Taguti, Regina Celli Thomé Castro Taguti, Gustavo Navarro Betônico, Fabiana Clemente Medeiros   +5 more
doaj   +1 more source

Purple Pigments: The Pathophysiology of Acute Porphyric Neuropathy

, 2012
The porphyrias are inherited metabolic disorders arising from disturbance in the haem biosynthesis pathway. The neuropathy associated with acute intermittent porphyria (AIP ) occurs due to mutation involving the enzyme porphobilinogen deaminase (PBGD ...
李銘仁, Lin, Cindy S.-Y.; Lee, Ming-Jen; Park, Susanna B.; Kiernan, Matthew C.   +1 more
core   +1 more source

Expression, purification and characterisation of protoporphyrinogen oxidases from diverse species

, 2000
Bibliography: leaves 163-203.This work involved the characterisation of protoporphyrinogen oxidase (PPO), the penultimate enzyme in haem biosynthesis, from Bacillus subtilis, Myxococcus xanthus, and human. A defect in human PPO causes variegate porphyria,
Siziba, Kwanele Bennett
core  

Chronic Elevation of Liver Enzymes in Acute Intermittent Porphyria Initially Misdiagnosed as Autoimmune Hepatitis

International Journal of Hepatology, 2011
Autoimmune hepatitis is a disease characterized by an elevation of liver enzymes, as well as specific autoantibodies. It is more common in women than men.
A. González Estrada, S. García-Morillo, L. Gómez Morales, P. Stiefel García-Junco   +3 more
doaj   +1 more source

Porphyria Presenting as Diffuse Encephalopathy

Pediatric Neurology Briefs, 2005
An 18-year-old female presenting with seizures, myalgias, abdominal pain, headache and vomiting had multiple large contrast-enhancing white matter lesions on MRI and was diagnosed with acute intermittent porphyria (AIP), in a report from the Department ...
J Gordon Millichap
doaj   +1 more source

Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis

Neuropsychiatric Disease and Treatment, 2014
Majid Alfadhel,1,3 Neam Saleh,2 Helal Alenazi,2 Henry Baffoe-Bonnie21Division of Genetics, Department of Pediatrics, 2Division of General Medicine, Department of Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia; 3College of Medicine,
Alfadhel M, Saleh N, Alenazi H, Baffoe-Bonnie H   +3 more
doaj