Results 231 to 240 of about 949,146 (306)

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt   +9 more
wiley   +1 more source

[Synthesis of vitamine B 6 homologs].

open access: yesYakugaku zasshi : Journal of the Pharmaceutical Society of Japan, 1972
T, Miki, T, Matsuo
openaire   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady   +10 more
wiley   +1 more source

Serum 25-Hydroxyvitamin D Levels in Breast Cancer Patients: A Cross-Sectional Analysis by Molecular Tumor Subtypes. [PDF]

open access: yesJ Clin Med
Weber D   +7 more
europepmc   +1 more source

Tracking Systemic and Ocular Vitamin A. [PDF]

open access: yesCells
Montenegro D   +4 more
europepmc   +1 more source

Excessive Vitamin E Supplementation: Implications for Ovarian Physiology and Reproductive Health. [PDF]

open access: yesOxid Med Cell Longev
Rabiee F   +7 more
europepmc   +1 more source

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