Results 111 to 120 of about 8,404 (212)

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  

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

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  

Best practice guidelines on clinical management of acute attacks of porphyria and their complications

, 2013
The British and Irish Porphyria Network guidelines describe best practice in the clinical assessment, investigation and management of acute porphyria attacks and their complications, including severe attacks with neuropathy.

core   +1 more source

Characterisation of the flavin adenine dinucleotide binding region in Myxococcus xanthus protoporphyrinogen oxidase

, 2011
This dissertation focuses on protoporphyrinogen oxidase (PPOX), the penultimate enzyme in the haem biosynthetic pathway. Partial defects in PPOX result in variegate porphyria, an autosomal dominant disorder.
Boateng, Mavis O
core  

Pathogenesis of neural manifestations in acute porphyria [PDF]

, 1977
CITATION: Shanley, B. C., Percy, V. A. & Neethling, A. C. 1977. Pathogenesis of neural manifestations in acute porphyria. South African Medical Journal, 51:458-460.The original publication is available at http://www.samj.org.zaAt least 4 possible ...
Shanley, B. C., Percy, V. A., Neethling, A. C.   +2 more
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Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Reversible Cerebral Vasoconstriction Syndrome and Myocardial Ischemia: A Case Report and Review

Bin Zhang,1,2 Chunqing Bu,3 Yuying Zhao,4 Zhangyong Xia1,5– 7 1Department of Neurology, Liaocheng People’s Hospital, Liaocheng, Shandong, People’s Republic of China; 2Department of Neurology, Qilu Hospital, Shandong University, Jinan, Shandong, People’s ...
Xia Z, Bu C, Zhang B, Zhao Y
core  

Acute Porphyria [PDF]

BMJ, 1948
openaire   +2 more sources

A family with acute intermittent porphyria

, 2008
Porphyrias are inherited defects in heme metabolism that result in excessive secretion of porphyrins and porphyrin precursors. Porphyrias can be classified into acute, (neuropsychiatric), cutaneous and mixed forms.
Billoo, Abdul Gaffar, Lone, Saira Waqar
core  

Acute hepatic porphyria in Denmark; a retrospective study

Orphanet Journal of Rare Diseases
Background Acute hepatic porphyria (AHP) constitutes a class of rare diseases caused by reduced function in enzymes of the heme-biosynthetic pathway. AHP includes acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria ...
Magnus Emil Ulrich Wagner, Morten Frost, Jan Frystyk   +2 more
doaj   +1 more source