Results 151 to 160 of about 3,705 (210)

Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria. [PDF]

Biosci Rep, 2013
Bustad HJ, Vorland M, Rønneseth E, Sandberg S, Martinez A, Toska K.   +5 more
europepmc   +1 more source

Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient. [PDF]

Front Genet, 2023
Wang X, Zhang H, Huang H, Wang W, Wen Y, Dai Z, Huang S, Zhou J, Zhou Y.   +8 more
europepmc   +1 more source

Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study [PDF]

, 2010
Mette Christophersen Tollånes, Aasne Karine Aarsand, Sverre Sandberg   +2 more
core   +1 more source

Constipation with megacolon or acute porphyria. [PDF]

Gastroenterol Rep (Oxf)
Chen J, Zhou S, Chen Q, Tian H.
europepmc   +1 more source

Evidence that the pyrromethane cofactor of hydroxymethylbilane synthase (porphobilinogen deaminase) is bound to the protein through the sulphur atom of cysteine-242

, 1988
Andrew D. Miller, Graham Hart, Leonard C. Packman, Alan R. Battersby   +3 more
openalex   +2 more sources

Acute Intermittent Porphyria: A Diagnostic Challenge for Endocrinologist

Chinese Medical Journal, 2015
Tao Yuan, Yu-Hui Li, Xi Wang, Feng-Ying Gong, Xue-Yan Wu, Yong Fu, Wei-Gang Zhao   +6 more
doaj   +1 more source

Acute Necrotizing Pancreatitis Secondary to Acute Intermittent Porphyria: A Rare Clinical Association. [PDF]

ACG Case Rep J
Wali S, Pandey WCG, Gutte S, Srinivasan VM, Gurjar M.   +4 more
europepmc   +1 more source

Normalization Challenges Across Adipocyte Differentiation and Lipid-Modulating Treatments: Identifying Reliable Housekeeping Genes. [PDF]

Int J Mol Sci
Ivanova Z, Petrova V, Penev T, Grigorova N.   +3 more
europepmc   +1 more source

A case report of acute intermittent porphyria presenting with reversible cerebral vasoconstriction syndrome. [PDF]

Medicine (Baltimore)
Rao W, Li L, Wu L, Chai W, Li J.
europepmc   +1 more source

Acute hepatic porphyrias. [PDF]

Porto Biomed J
Marques I, Marcos P.
europepmc   +1 more source