Results 121 to 130 of about 295,934 (166)

A novel <i>HMBS</i> gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings. [PDF]

Front Genet
Dong W, Zeng B, Wang X, Zhang R, Huang P, Fan B, Yuan M, Li Z.   +7 more
europepmc   +1 more source

An easily overlooked disease in the early stages: acute intermittent porphyria. [PDF]

BMC Neurol
Wang J, Chen J, Xu K, Li Z, Yu G, Zheng P, Jing L, Feng J, Qin X.   +8 more
europepmc   +1 more source

A Case Report of Acute Intermittent Porphyria Mimicking Autoimmune Encephalitis. [PDF]

Cureus
Kumar H, Salam M.
europepmc   +1 more source

TSPO safeguards porphyrin-iron balance under anoxic conditions in <i>Bacillus cereus</i>. [PDF]

mSystems
Duport C, Schmitt C, Armengaud J.
europepmc   +1 more source

Molecular analysis of a new patient COX15 mutation provides insight into the etiology of fatal infantile cardioencephalopathy. [PDF]

J Biol Chem
Carroll-Deaton JA, Bohovych I, Emetu FT, Dietz JV, Rivett ED, Stanley E, Hegg EL, Fox JL, Khalimonchuk O.   +8 more
europepmc   +1 more source

The Effect of Renal Ischemia/Reperfusion on the Renal Expression of Epithelial Sodium Channels in Rat: Possible Role of Neural Precursor Cell-Expressed Developmentally Down-Regulated Protein (Nedd4-2).

Kidney Blood Press Res
Malatiali S, Fahel R, Ali RH, Redzic Z.
europepmc   +1 more source

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Network analysis of hydroxymethylbilane synthase dynamics

Journal of Molecular Graphics and Modelling, 2020
Hydroxymethylbilane synthase (HMBS) is one of the key enzymes of the heme biosynthetic pathway that catalyzes porphobilinogen to form the linear tetrapyrrole 1-hydroxymethylbilane through four intermediate steps. Mutations in the human HMBS (hHMBS) can lead to acute intermittent porphyria (AIP), a lethal metabolic disorder.
Arijit Roy, Broto Chakrabarty, Gopalakrishnan Bulusu   +2 more
exaly   +4 more sources

Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias

Journal of Hepatology, 2015
Variegate porphyria (VP) and acute intermittent porphyria (AIP), the two most common types of acute porphyrias (AHPs), result from a partial deficiency of protoporphyrinogen oxidase (PPOX) and hydroxymethylbilane synthase (HMBS), respectively. A rare but serious complication in the AHPs is hepatocellular carcinoma (HCC).
Jasmin Barman-Aksözen, Peter Bauer, Michel Van Geel   +2 more
exaly   +4 more sources