Results 131 to 140 of about 36,453 (301)

Neurological Manifestations and Neuroimaging Findings of Acute Intermittent Porphyria Patients

, 2022
Anlei Liu, Jian Cao, Fei Han, Qianlong Chen, Hui You, Haudong Zhu, Jing Yang   +6 more
openalex   +1 more source

X-ray structure of a putative reaction intermediate of 5-aminolaevulinic acid dehydratase [PDF]

, 2003
The X-ray structure of yeast 5-aminolaevulinic acid dehydratase, in which the catalytic site of the enzyme is complexed with a putative cyclic intermediate composed of both substrate moieties, has been solved at 0.16 nm (1.6 A) resolution.
Brindley, Amanda A., Butler, Danica, Coates, Leighton, Cooper, Jonathan B., Erskine, Peter T., Shoolingin-jordan, Peter M., Warren, Martin J., Wood, Steve P., Youell, James H.   +8 more
core   +2 more sources

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

LABRAD : Vol 34, Issue 3 - October 2009 [PDF]

, 2009
Detection of Amoebic Meningitis by Wet Film of Cerebrospinal Fluid (CSF) Biochemical Tests in the Diagnosis of Anaemia Pathophysiology and Laboratory Investigation in Anaemia of Chronic Disease Haematogones: A pitfall in the Diagnosis of Leukemias ...
Aga Khan University Hospital, Karachi
core   +1 more source

Pro-oxidant effect of ALA is implicated in mitochondrial dysfunction of HepG2 cells [PDF]

, 2014
Heme biosynthesis begins in the mitochondrion with the formation of delta-aminolevulinic acid (ALA). In acute intermittent porphyria, hereditary tyrosinemia type I and lead poisoning patients, ALA is accumulated in plasma and in organs, especially the ...
C. Homedan, C. Jacques, C. Schmitt, H. Puy, J. Laafi, M.C. Martinez, N. Gueguen, P. Reynier, Y. Malthièry   +8 more
core   +4 more sources

Evaluating the Efficacy of a Small Interfering Ribonucleic Acid Molecule, Givosiran, in Treating Acute Intermittent Porphyria: A Systematic Review [PDF]

, 2023
Priyansh Patel, Sidharth Midha, Surmai Shukla, Divyanshu Dhamija, Adedamola O. Bello, Safeera Khan   +5 more
openalex   +1 more source

Medical and financial burden of acute intermittent porphyria

Journal of Inherited Metabolic Disease, 2018
IntroductionA small proportion of patients with acute intermittent porphyria (AIP) suffer from recurrent porphyric attacks, with a severely diminished quality of life.
Rochus Neeleman, M. Wagenmakers, R. Koole-Lesuis, G. S. Mijnhout, J. Wilson, E. Friesema, J. Langendonk   +6 more
semanticscholar   +1 more source

Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia

Frontiers in Genetics, 2018
Acute intermittent porphyria (AIP) is a rare hereditary metabolic disease with an autosomal dominant mode of inheritance. Germline mutations of HMBS gene causes AIP.
Yongjiang Zheng, Jiehua Xu, Shengran Liang, Dong-zi Lin, S. Banerjee   +4 more
semanticscholar   +1 more source

Long-Term Follow-up of Erythrocyte Porphobilinogen Deaminase Activity in a Patient With Acute Intermittent Porphyria: The Relationship between the Enzyme Activity and Abdominal Pain Attacks [PDF]

, 2007
The relationship between the onset of abdominal pain attack and the urinary levels of δ-aminolevulinic acid, porphobilinogen, uroporphyrin, and the activity of erythrocyte porphobilinogen deaminase was studied on a monthly basis over a four-year period
1242, 1243, 1244, 1245, IMANISHI, Masafumi, TANAKA, Hiroaki, TANIDA, Eri, USUDA, Kan   +7 more
core   +1 more source