Results 81 to 90 of about 19,626,692 (182)

Dystrophia Smolandiensis is characterized by a novel NQO1 variant and a distinct phenotype from COL17A1‐associated epithelial recurrent erosion dystrophy

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose To determine the molecular cause of the two epithelial recurrent erosion dystrophies, Dystrophia Smolandiensis and Dystrophia Helsinglandica, and to identify phenotypic differences between the two conditions. Methods DNA samples and clinical data from structured interview records were obtained from the Swedish families in which ...
Karl De Geer   +5 more
wiley   +1 more source

Timely Diagnosis of Cobalamin C Disease via Rapid Genome Sequencing in a Neonate With Severe Prenatally Detected Biventricular Dysfunction

open access: yesCase Reports in Critical Care
Cobalamin C (Cbl-C) disease, the most common inborn error of cobalamin metabolism caused by biallelic pathogenic MMACHC variants, leads to multisystem involvement from methylmalonic acid and homocysteine accumulation.
Yutaka Furuta   +7 more
doaj   +1 more source

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

open access: yesJDDG: 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   +7 more
wiley   +1 more source

Cobalamin in the healthy human intestinal tract.

open access: yes, 2019
Ingested food containing cobalamin enters the stomach. IF is produced in the stomach and binds cobalamin in the small intestine. There, cobalamin–IF complexes are absorbed by host enterocytes in the terminal ileum (indicated by outward arrows in small ...
Carol A. Rowley (6172088)   +1 more
core   +1 more source

The cobalamin-binding protein in zebrafish is an intermediate between the three cobalamin-binding proteins in human. [PDF]

open access: yes, 2012
In humans, three soluble extracellular cobalamin-binding proteins; transcobalamin (TC), intrinsic factor (IF), and haptocorrin (HC), are involved in the uptake and transport of cobalamin.
Eva Greibe (171188)   +8 more
core   +1 more source

Reversible clinical and magnetic resonance imaging findings in late-onset cobalamin C defect

open access: yes, 2015
Reversible clinical and magnetic resonance imaging findings in late-onset cobalamin C defect: Cobalamin C (Cbl C) disease is an inborn error of intracellular cobalamin metabolism. Two distinct clinical types are defined according to the age of onset.
Gurkas, E.   +5 more
core   +1 more source

Physiological, molecular, and histological evaluation of the effects of cobalamin on cardiac function in castrated rabbits

open access: yesOpen Veterinary Journal
Background: Testosterone deficiency is associated with adverse cardiac remodeling, oxidative stress, and inflammation. Aim: To investigate the physiological, biochemical, and histological effects of cobalamin (vitamin B12) supplementation on cardiac ...
Mohammed Hayder Asker   +3 more
doaj   +1 more source

Metformin Use Is Associated With Better Cognitive Performance in Older Adults With Type 2 Diabetes: Exploratory Analysis of Vitamin B12 and Methylmalonic Acid Pathways in NHANES 2011–2014

open access: yesDiabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims Metformin, the first‐line treatment for Type 2 diabetes mellitus (T2DM), may be neuroprotective but also lowers serum vitamin B12 by ~19%, raising concern that B12 depletion could offset this benefit. We used modern exploratory causal mediation methods in a nationally representative sample to test whether vitamin B12 and methylmalonic ...
Danial Fotros   +2 more
wiley   +1 more source

Cobalamin-fluorophore based photoinitiators for hydrogel curing with tissue penetrating light

open access: yes, 2015
Cobalamin-fluorophore based photoinitiators for hydrogel curing with tissue penetrating ...
Zach Rodgers (19708774)   +8 more
core  

Clinical improvement and scalp microbiome restructuring following a 28‐day piroctone olamine shampoo intervention

open access: yesInternational Journal of Cosmetic Science, EarlyView.
A 28‐day clinical study in 41 individuals with oily dandruff showed that a piroctone olamine shampoo improved clinical symptoms while selectively reshaping the scalp bacterial and fungal microbiome toward a less dysbiotic profile. Abstract Objective To evaluate the clinical efficacy of a piroctone olamine–containing shampoo in individuals with oily ...
Spyridon Markos   +4 more
wiley   +1 more source

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