Results 91 to 100 of about 2,195 (151)

Hydroxymethylbilan synthase [PDF]

, 2019
openaire   +1 more source

A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report. [PDF]

Medicine (Baltimore), 2018
Ren Y, Xu LX, Liu YF, Xiang CY, Gao F, Wang Y, Bai T, Yin JH, Zhao YL, Yang J.   +9 more
europepmc   +1 more source

Influência de polimorfismos genéticos sobre a atividade da enzima hidroximetilbilano sintase Influence of genetic polymorphisms on hydroxymethylbilane synthase enzyme activity

Revista Brasileira de Hematologia e Hemoterapia, 2009
Ana D. G. Gonzaga
doaj   +1 more source

Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP. [PDF]

Proc Natl Acad Sci U S A, 2018
Bung N, Roy A, Chen B, Das D, Pradhan M, Yasuda M, New MI, Desnick RJ, Bulusu G.   +8 more
europepmc   +1 more source

Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. [PDF]

Hum Mol Genet, 2019
Yasuda M, Gan L, Chen B, Yu C, Zhang J, Gama-Sosa MA, Pollak DD, Berger S, Phillips JD, Edelmann W, Desnick RJ.   +10 more
europepmc   +1 more source

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

Acute intermittent porphyria presenting as posterior reversible encephalopathy syndrome: a case report. [PDF]

J Med Case Rep
Sharma A, Chawla Y, Atam V, Srivastava S.   +3 more
europepmc   +1 more source

Severe peripheral neuropathy secondary to acute intermittent porphyria caused by a rare HMBS gene mutation: a case report. [PDF]

BMC Neurol
Li Y, Wang D, Hong D.
europepmc   +1 more source

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

The Queen and the Dark Twin: Heme, Protoporphyrin IX, and State Transitions in Liver Metabolism. [PDF]

Molecules
Adapa SR, Jiang RHY.
europepmc   +1 more source