Results 51 to 60 of about 4,609 (210)
BioTechniques, 1999 Analysis of gene expression and its transcriptional regulation requires a reliable access to target mRNA. However, mRNA extractions from homogenized tissue are limited because only average data are obtained, and cell-specific expression may not be ...
L. Fink +5 more
doaj +1 more source
Molecular Therapy: Nucleic Acids, 2021 Variegate porphyria (VP) results from haploinsufficiency of protoporphyrinogen oxidase (PPOX), the seventh enzyme in the heme synthesis pathway. There is no VP model that recapitulates the clinical manifestations of acute attacks.
Daniel Jericó +18 more
doaj +1 more source
Acute Intermittent Porphyria With Epilepsy as the Initial Symptom and Posterior Reversible Encephalopathy Syndrome: A Case Report. [PDF]
Case Rep Neurol MedAcute intermittent porphyria (AIP) is a rare hereditary metabolic disorder, manifesting in a series of neuropsychiatric symptoms and abdominal pain. Posterior reversible encephalopathy syndrome (PRES) is also an uncommon clinical syndrome characterized by localized cerebral edema in the posterior part of the brain, accompanied by abnormal signal ...
Li W, Lian ZY, Mi XJ, Tang J.
europepmc +2 more sources
Availability of porphobilinogen controls appearance of porphobilinogen deaminase activity in Escherichia coli K-12 [PDF]
Journal of Bacteriology, 1988 A hemin-permeable hemB mutant had no 5-aminolevulinate dehydratase (ALA D) and extremely low porphobilinogen deaminase (PBG D) activity. When the structural gene for hemB was introduced into this strain on a single-copy plasmid, both activities were observed. When the mutant was grown on PBG, normal PBG D activity was observed.
H, Umanoff, C S, Russell, S D, Cosloy
openaire +2 more sources
Orphanet Journal of Rare Diseases, 2020 Background Reversible splenial lesion syndrome (RESLES) is a clinico-radiological syndrome characterized by the presence of reversible lesions specifically involving the splenium of the corpus callosum (SCC). The cause of RESLES is unknown.
Jing Yang +8 more
doaj +1 more source
Acute Hepatic Porphyrias: Review and Recent Progress. [PDF]
, 2019 The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Andant +40 more
core +1 more source
Deconvoluting heme biosynthesis to target blood-stage malaria parasites [PDF]
, 2015 Heme metabolism is central to blood-stage infection by the malaria parasite Plasmodium falciparum. Parasites retain a heme biosynthesis pathway but do not require its activity during infection of heme-rich erythrocytes, where they can scavenge host heme ...
Crowley, Jan R +3 more
core +2 more sources
Differential diagnosis of acute abdominal pain – acute intermittent porphyria [PDF]
Medicinski Glasnik, 2011 Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder of heme biosynthesis in liver due to deficiency of porphobilinogen deaminase enzyme.
Mislav Klobučić +5 more
doaj
Prophylactic Heme Arginate Infusion for Acute Intermittent Porphyria
Frontiers in Pharmacology, 2021 Objectives: This study aimed to evaluate the efficacy of long-term weekly prophylactic heme arginate (HA) infusions in reducing attack frequency and severity in female AIP patients.Methods: We report the results of five female AIP patients with frequent ...
Hung-Chou Kuo +3 more
doaj +1 more source
A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations [PDF]
, 2018 The low-phospholipid-associated cholelithiasis (LPAC) syndrome is a form of symptomatic cholelithiasis occurring in young adults, characterized by recurrence of symptoms after cholecystectomy and presence of hepatolithiasis.
Anapaz, V +7 more
core +1 more source