Results 91 to 100 of about 6,810 (200)

Histopathologic Characterization of Cutaneous Oxalosis Mimicking Calciphylaxis: Diagnostic Pitfalls and Polarized Light Evaluation

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Cutaneous oxalosis is an uncommon manifestation of primary hyperoxalosis, which can often resemble other cutaneous manifestations of end stage renal disease (ESRD), particularly calciphylaxis. We report the case of a 46 year old female with primary hyperoxaluria type one (PH1) believed to be well‐controlled on lumasiran, a small interfering ...
Shrina Patel, Brad Graham, Kaci Reaves, Mya Phelps   +3 more
wiley   +1 more source

Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings

Frontiers in Psychiatry
BackgroundPathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and a response only to ...
Mustafa A. Salih, Albandary AlBakheet, Rawan Almass, Ahlam A. A. Hamed, Ali AlOdaib, Namik Kaya   +5 more
doaj   +1 more source

Recessive monogenic mutation in grain pea (pisum sativum) that causes pyridoxine requirement for growth and seed production [PDF]

, 1988
A stable pyridoxine-deficient pea mutant was obtained by screening the M2 progeny of azide-treated Pisum sativum cv Pusa Harbhajan. The mutation is visible lethal.
Sushil Kumar
core   +1 more source

Prurigo Pigmentosa – an increasingly diagnosed dermatological condition associated with ketogenic diet

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
SUMMARY Prurigo pigmentosa (PP) is a rare inflammatory dermatosis, clinically characterized by intensely pruritic, erythematous papules and papulovesicles, with reticular hyperpigmentation upon healing. We herein report four cases in adults of different ethnic backgrounds, in which the disease was associated with ketogenic metabolic states due to ...
Antigona Aliu, Milan Vidakovic, Marcel Krauß, Julia Hyun, Frank Oellig, Thilo Gambichler, Valentina Laura Müller, Alexander Kreuter   +7 more
wiley   +1 more source

Spectroelectrochemical Investigation of the Interaction of Adenine with Pyridoxine at Physiological pH

Journal of Spectroscopy, 2019
Spectroelectrochemical techniques were used to probe the interaction of adenine with pyridoxine at pH 7.0. Analysis of UV-visible absorption of the adenine-pyridoxine complex at 260 nm using the Lineweaver–Burk double reciprocal plot produced a linear ...
Yasmin Roye, Uche Udeochu, Maraizu Ukaegbu, Jonathan Onuegbu   +3 more
doaj   +1 more source

POTENTIOMETRIC AND CONDUCTIMETRIC STUDIES OF CHEMICAL EQUILIBRIA FOR PYRIDOXINE HYDROCHLORIDE IN AQUEOUS SOLUTIONS: SIMPLE EXPERIMENTAL DETERMINATION OF PKA VALUES AND ANALYTICAL APPLICATIONS TO PHARMACEUTICAL ANALYSIS

Eclética Química, 2018
The combination of two low-cost classical procedures based on titrimetric techniques is presented for the determination of pyridoxine hydrochloride in pharmaceuticals samples.
Thiago de Almeida Drumond dos Santos, Diego Oliveira da Costa, Samuel Silva da Rocha Pita, Felipe Silva Semaan   +3 more
doaj   +1 more source

Phenotypic characterization of Arabidopsis thaliana mutants that alleviate root growth defects in a vitamin B6 biosynthesis mutant

The FEBS Journal, EarlyView.
Vitamin B6 is a critical molecule for plant metabolism and development. Rsr4‐1, a loss‐of‐function mutant in a vitamin B6 biosynthesis gene, has a distinct short root phenotype. Here we describe five novel suppressor mutants with an rsr4‐1 background that have normalized root growth and distinct phenotypic and molecular characteristics, representing a ...
Marcelina Parra, Paige Henning, Clayton Bailes, Sanja Roje, Hanjo Hellmann   +4 more
wiley   +1 more source

Metabolic mRNA insufficiency of single cells: Implications for drug targeting and resistance

The FEBS Journal, EarlyView.
Because none of the single‐cell mRNA profiles of growing cell populations encoded any pathway towards cell growth, we used cluster‐averaged transcriptomes to estimate protein‐constrained Vmax's and identify (combinations of) subpopulation‐specific targets to overcome drug resistance. (Graphical Abstract was created in BioRender. Liu, Y. (2026). https://
Yanhua Liu, Hans V. Westerhoff
wiley   +1 more source

Combination Therapy with Pyridoxine and Arginine Supplementations along with a Lysine-Restricted Diet in Individuals with Pyridoxine-Dependent Epilepsy: A Comprehensive Systematic Review

Current Developments in Nutrition
Background: Pyridoxine-dependent epilepsy (PDE) is identified as a rare neurometabolic disease marked by biallelic pathogenic mutations of the ALDH7A1 gene.
Ali Jafari, Mohammad Mehdi Abbasi, Hamid Abbasi, Sama Rahnemayan, Farnush Bakhshimoghaddam, Saeid Doaei   +5 more
doaj   +1 more source

Hydrothermal origin of metabolic phosphorylation

The FEBS Journal, EarlyView.
Serpentinizing hydrothermal vents are candidate sites for biochemical origins. They generate extremely reducing conditions, depositing phosphite (HPO32−) and transition metals, including palladium, in the native (zero‐valent) state. Schlikker et al.
Manon L. Schlikker, Nadja K. Hoffmann, Sabine Metzger, Jorge Moral‐Pombo, Harun Tüysüz, William F. Martin   +5 more
wiley   +1 more source