Results 101 to 110 of about 295,934 (166)

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

Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria

Journal of Inherited Metabolic Disease, 2018
Brenden Chen, Constanza Solis-Villa, Angelika L Erwin, M. Balwani, Irina Nazrenko, J. Phillips, R. Desnick, Makiko Yasuda   +7 more
semanticscholar   +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 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

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

Constipation with megacolon or acute porphyria. [PDF]

Gastroenterol Rep (Oxf)
Chen J, Zhou S, Chen Q, Tian H.
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

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

Acute Intermittent Porphyria With Epilepsy as the Initial Symptom and Posterior Reversible Encephalopathy Syndrome: A Case Report. [PDF]

Case Rep Neurol Med
Li W, Lian ZY, Mi XJ, Tang J.
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