Results 121 to 130 of about 111,384 (201)

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta   +17 more
wiley   +1 more source

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

Porcine kidney xenotransplantation: From primate models to clinical reality

open access: yesAnimal Models and Experimental Medicine, EarlyView.
In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo   +3 more
wiley   +1 more source

Liquid Biopsy for Early Pancreatic Cancer Detection: Why Has It Not Yet Worked? [PDF]

open access: yesCancers (Basel)
Takahashi K   +6 more
europepmc   +1 more source

Identification and validation of fecal complement component 3 and fibronectin as potential biomarkers for monitoring disease activity in ulcerative colitis based on a mouse model

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study demonstrated elevated levels of fecal component 3 (C3) and fibronectin (FN) in an ulcerative colitis (UC) mouse model. Importantly, fecal C3 exhibited a stronger correlation with disease activity than the clinically used fecal calprotectin (FC).
Yangyun Guo   +6 more
wiley   +1 more source

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