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UnknownAtypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.
Not available
S-EPMC7689168 | biostudies-literature
UnknownVancomycin variable Enterococci in the Netherlands (2018-2023) and the mechanism of resistance induction.
Not available
S-EPMC12880688 | biostudies-literature
UnknownChildren with atopic dermatitis show increased activity of β-glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu.
Not available
S-EPMC9325351 | biostudies-literature
UnknownCo-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).
Not available
S-EPMC7823043 | biostudies-literature
UnknownRFID analysis of the complexity of cellular pathology workflow-An opportunity for digital pathology.
Not available
S-EPMC9377528 | biostudies-literature
UnknownPrediction of Maternal and Fetal Doravirine Exposure by Integrating Physiologically Based Pharmacokinetic Modeling and Human Placenta Perfusion Experiments.
Not available
S-EPMC9349081 | biostudies-literature
UnknownFXR overexpression alters adipose tissue architecture in mice and limits its storage capacity leading to metabolic derangements.
Not available
S-EPMC6718433 | biostudies-literature
UnknownClinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
Not available
S-EPMC4158181 | biostudies-literature
UnknownMitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation.
Not available
S-EPMC8649387 | biostudies-literature
UnknownPrenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.
Not available
S-EPMC4326708 | biostudies-literature
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