Results 91 to 100 of about 8,773 (221)

Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases

open access: yesJournal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung   +4 more
wiley   +1 more source

Systematic identification of gene families for use as markers for phylogenetic and phylogeny- driven ecological studies of bacteria and archaea and their major subgroups [PDF]

open access: yes, 2013
With the astonishing rate that the genomic and metagenomic sequence data sets are accumulating, there are many reasons to constrain the data analyses.
Eisen, Jonathan A.   +2 more
core   +4 more sources

A family with acute intermittent porphyria [PDF]

open access: yes, 2008
Porphyrias are inherited defects in heme metabolism that result in excessive secretion of porphyrins and porphyrin precursors. Porphyrias can be classified into acute, (neuropsychiatric), cutaneous and mixed forms.
Billoo, Abdul Gaffar, Lone, Saira Waqar
core   +1 more source

Liquid chromatography-tandem mass spectrometry - Application in the clinical laboratory [PDF]

open access: yes, 2003
This review provides a concise survey of liquid chromatography tandem mass spectrometry (LCTMS) as an emerging technology in clinical chemistry. The combination of two mass spectrometers with an interposed collision cell characterizes LCTMS as an ...
Ford RE   +7 more
core   +1 more source

Acute Intermittent Porphyria: A Report of 3 Cases with Neuropathy

open access: yesCase Reports in Neurology, 2019
The porphyrias are metabolic disorders due to a defect in the heme biosynthetic pathway. Patients have diverse clinical presentations with neuropathy being frequent in acute intermittent porphyria (AIP).
Mohammed Alqwaifly   +2 more
doaj   +1 more source

Safe use of perampanel in a carrier of variegate porphyria [PDF]

open access: yes, 2016
Objectives. Treatment of chronic epilepsy in acute porphyrias may be difficult because many antiepileptic drugs can cause activation of clinically-latent conditions. Methods.
Balestrini, S   +3 more
core   +1 more source

Hepatocyte Transplantation Ameliorates the Metabolic Abnormality in a Mouse Model of Acute Intermittent Porphyria

open access: yesCell Transplantation, 2014
Acute intermittent porphyria (AIP) is an autosomal dominant disorder characterized by insufficient porphobilinogen deaminase (PBGD) activity. When hepatic heme synthesis is induced, porphobilinogen (PBG) and 5-aminolevulinic acid (ALA) accumulate, which ...
Zhaohui Yin   +5 more
doaj   +1 more source

Rat Porphobilinogen Deaminase Gene: A Pseudogene-Free Internal Standard for Laser-Assisted Cell Picking

open access: yesBioTechniques, 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

PORPHOBILINOGEN IN LEAD POISONING

open access: yesSangyo Igaku, 1972
Lead poisoning is associated with characteristic urinary increases of δ-aminolevulinic acid and coproporphyrinogen III, elevated erythrocyte protoporphyrin concentration and partial block of δ- aminolevulinic acid dehydratase.In human lead poisoning a very small amount of increase of porphobilinogen and uroporphyrinogen III is reported, while in ...
Hajime MIURA, Seiyo SANO
openaire   +2 more sources

Effects of zinc against mercury toxicity in female rats 12 and 48 hours after HgCl2 exposure [PDF]

open access: yes, 2016
This work investigated the toxicity of inorganic mercury and zinc preventive effects in female rats sacrificed 12 or 48 h after HgCl2 exposure. Female Wistar rats were subcutaneously injected with ZnCl2 (27 mg/kg) or saline (0.9 %), and 24 h later they ...
Bizzi, Cezar Augusto   +6 more
core   +1 more source

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