Results 31 to 40 of about 164,160 (174)
Clinical Case Reports, 2023 Key Clinical Message The detection of a novel HMBS gene mutation (c.457C > T) in a Mexican woman with acute intermittent porphyria underscores the importance of expanding genetic analyses in diverse populations to improve diagnosis, management, and ...
Jose Malagon‐Rangel +4 more
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Frontiers in Genetics, 2023 Background: Early detection and diagnosis are important crucial to prevent life-threatening acute attacks in patients with acute intermittent porphyria (AIP).
Yi Ren +5 more
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Enigmatic Evolutionary History of Porphobilinogen Deaminase in Eukaryotic Phototrophs
Biology, 2021 In most eukaryotic phototrophs, the entire heme synthesis is localized to the plastid, and enzymes of cyanobacterial origin dominate the pathway.
Miroslav Oborník
doaj +1 more source
Frontiers in Veterinary Science, 2023 Quantitative polymerase chain reaction (qPCR) is an important method to detect gene expression at the molecular level. The selection of appropriate housekeeping genes is the key to accurately calculating the expression level of target genes and ...
Fei Shui +13 more
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A simple rapid purification scheme for hydroxymethylbilane synthase from human erythrocytes [PDF]
Biochemical Journal, 1988 Hydroxymethylbilane synthase from human erythrocytes was purified 47,000-fold to greater than 95% homogeneity and 7.5% yield by a simple and rapid procedure using heat treatment (80 degrees C, in the presence of proteinase inhibitors, to convert one of two chromatographically separable forms into the other), DEAE-cellulose and Cibacron Blue F3G-A ...
E, Smythe, D C, Williams
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Mortality in Pedigrees with Acute Intermittent Porphyria
Life, 2022 High mortality rates have been reported in historical cohorts of acute intermittent porphyria (AIP) patients. The mortality associated with (hydroxymethylbilane synthase) HMBS variant heterozygosity is unknown. This study estimates all-cause mortality in
Rochus Neeleman +6 more
doaj +1 more source
Clinical Features and Outcomes of Acute Intermittent Porphyria Presenting With Acute Quadriparesis: A Case Series and Follow-Up Study. [PDF]
Eur J NeurolABSTRACT Introduction A retrospective case series of acute intermittent porphyria (AIP) presenting with acute quadriparesis is described with a focus on patterns of neuropathy and nerve conduction study findings. Methods Six patients with acute polyneuropathy were diagnosed with AIP on the basis of characteristic clinical findings, urine ...
Alhammad RM +9 more
europepmc +2 more sources
Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies
Case Reports in Genetics, 2020 Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates.
G. N. Cerbino +6 more
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Simultaneous determination of hydroxymethylbilane synthase and uroporphyrinogen III synthase in erythrocytes by high-performance liquid chromatography [PDF]
Biochemical Journal, 1983 A high-performance-liquid-chromatographic method is developed for the simultaneous determination of hydroxymethylbilane synthase and uroporphyrinogen III synthase activity in erythrocytes. Effective separation of uroporphyrin I and III isomers allows the accurate quantification of individual isomers and the total uroporphyrin concentration.
D J, Wright, C K, Lim
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A study into the cobalamin-dependent methionine synthase reactivation mechanism in corynebacterium glutamicum [PDF]
, 2009 PhDMethionine is one of the seven essential amino-acids for humans and is also used in feed supplements, predominantly for poultry and felines. Thus there is commercial interest in producing this nutrient. The final step in the biological synthesis of
Burton-Smith, Raymond Nathaniel
core +4 more sources