Results 171 to 180 of about 181,889 (303)

Prevalence and factors associated with vitamin C deficiency in inflammatory bowel disease. [PDF]

open access: yesWorld J Gastroenterol, 2022
Gordon BL   +6 more
europepmc   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr   +5 more
wiley   +1 more source

Oxygen‐Tolerant Photo‐Induced Miniaturized Accelerated Atom Transfer Radical Polymerization (OPTIMA‐ATRP) for High‐Throughput Synthesis of Polymer Bioconjugates

open access: yesAngewandte Chemie, EarlyView.
Oxygen‐tolerant photo‐induced miniaturized accelerated atom transfer radical polymerization (OPTIMA‐ATRP) in water was developed for the polymerization of hydrophilic (meth)acrylate monomers under ambient or sub‐ambient (4°C) temperature and atmospheric conditions, without prior degassing, in less than 10 min, at an ultra‐small scale (< 50 µL) in ...
Arman Moini Jazani   +5 more
wiley   +2 more sources

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu   +23 more
wiley   +1 more source

Vitamin C deficiency reveals developmental differences between neonatal and adult hematopoiesis. [PDF]

open access: yesFront Immunol, 2022
Phadke I   +9 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

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