Results 221 to 230 of about 380,553 (404)

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue   +16 more
wiley   +1 more source

Shear Wave Tensiometry in the Evaluation of Achilles Tendon Loading: A Cross-Sectional Study on Conservatively Treated Tendons After Rupture. [PDF]

open access: yesJ Foot Ankle Res
Schneebeli A   +8 more
europepmc   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Randomized preclinical study of machine perfusion in vascularized composite allografts

open access: yesBJS (British Journal of Surgery), EarlyView., 2020
This study was designed to identify the optimum machine perfusion parameters for preservation of limbs before transplantation, and determine whether this was better than cold storage. Normothermic machine perfusion at a pressure of 70 mmHg (NMP‐70) provided superior preservation to cold storage after transplantation.
K. R. Amin   +7 more
wiley   +1 more source

PI3K-Akt signalling regulates Scx-lineage tenocytes and Tppp3-lineage paratenon sheath cells in neonatal tendon regeneration. [PDF]

open access: yesNat Commun
Goto A   +15 more
europepmc   +1 more source

A mouse coccygeal intervertebral disc degeneration model with tail‐looping constructed using a suturing method

open access: yesAnimal Models and Experimental Medicine, EarlyView.
A novel, simple coccygeal intervertebral disc degeneration model, using a suturing method for tail‐looping, without the need for external fixation and complex surgery. The model has high reproducibility and stability and overcomes the disadvantages of the existing animal models of disc degeneration.
Wei Xie   +11 more
wiley   +1 more source

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