A novel mutation c.457C > T p.Q153 in the HMBS gene in a Mexican woman with acute intermittent porphyria [PDF]
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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Hydroxymethylbilane synthase (HMBS) gene-based endogenous internal control for avian species [PDF]
AMB Express, 2020 With PCR becoming one of the most important and widely-used diagnostic tools for infectious diseases of poultry, an urgent need has developed for an endogenous internal control (EIC) that monitors the quality and quantity of poultry DNA in test samples ...
Yaoyao Wang +13 more
doaj +7 more sources
Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review [PDF]
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
doaj +6 more sources
Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia [PDF]
Frontiers in Genetics, 2018 Acute intermittent porphyria (AIP) is a rare hereditary metabolic disease with an autosomal dominant mode of inheritance. Germline mutations of HMBS gene causes AIP.
Yongjiang Zheng +4 more
doaj +6 more sources
Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis [PDF]
Neuropsychiatric Disease and Treatment, 2014 Majid Alfadhel,1,3 Neam Saleh,2 Helal Alenazi,2 Henry Baffoe-Bonnie21Division of Genetics, Department of Pediatrics, 2Division of General Medicine, Department of Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia; 3College of Medicine,
Alfadhel M +3 more
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HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review [PDF]
Medicine (United States), 2023 Background: Acute intermittent porphyria (AIP) is caused by a partial deficiency of hydroxymethylbilane synthase and affects heme biosynthesis. Mutations in the HMBS gene result in HMBS deficiency. AIP is a rare disease, and there been insufficient studies on it.
exaly +4 more sources
A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome. [PDF]
Mol Med Rep, 2020 Acute intermittent porphyria (AIP) is a rare inherited disorder, which is caused by the partial deficiency of hydroxymethylbilane synthase (HMBS), an enzyme of the heme biosynthetic pathway. Abdominal pain, neuropsychiatric disturbance and neuropathy are the typical manifestations of the disease.
Yang Y +6 more
europepmc +4 more sources
Frontiers in Molecular Biosciences, 2023 Background: Acute intermittent porphyria (AIP; OMIM#176000) is a genetic disorder that is caused by mutations in the hydroxymethylbilane synthetase (HMBS) gene. This gene encodes the third enzyme in the heme biosynthesis pathway.
Lei Liang +3 more
doaj +3 more sources
Validation of Optimal Reference Genes for qRT-PCR in Adipose- and Uterine-Derived Feline Mesenchymal Stem Cells [PDF]
Veterinary SciencesFeline mesenchymal stem cells (MSCs) isolated from adipose (A-MSCs) and uterine (U-MSCs) tissues during routine ovariohysterectomy represent valuable therapeutic sources in veterinary regenerative medicine.
Rubel Miah +12 more
doaj +2 more sources
Molecular study of the hydroxymethlybilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria † ‡ [PDF]
Human Mutation, 2002 Acute intermittent porphyria (AIP), an autosomal dominant disorder of heme biosynthesis, is due to mutations in hydroxymethylbilane synthase (HMBS; or porphobilinogen deaminase, PBGD) gene. In this study, we analyzed 20 Polish patients affected by AIP and we were able to characterize seven novel mutations.
Urszula Szlendak, Xiaoye Schneider-Yin
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