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decrease » decreased (Expand Search), increase (Expand Search)
rare » rate (Expand Search), care (Expand Search)
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Comparison of Burr-Hole Craniostomy versus Twist-Drill Craniostomy Operations for Patients with Chronic Subdural Hematoma: A Systematic Review and Network Meta-Analysis
Published 2023“…</p><h2>Other Information</h2><p dir="ltr">Published in: World Neurosurgery<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1016/j.wneu.2023.05.022" target="_blank">https://dx.doi.org/10.1016/j.wneu.2023.05.022</a></p>…”
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Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia
Published 2020“…<p dir="ltr">Accumulation of glycogen in the kidney and liver is the main feature of Fanconi–Bickel Syndrome (FBS), a rare disorder of carbohydrate metabolism inherited in an autosomal recessive manner due to SLC2A2 gene mutations. …”
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Genome-wide association study and meta-analysis of phytosterols identifies a novel locus for serum levels of campesterol
Published 2024“…<p dir="ltr">Sitosterolemia is a rare inherited disorder caused by mutations in the <i>ABCG</i><sub><em>5</em></sub>/<i>ABCG8</i> genes. …”
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PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development
Published 2020“…Here, we report a novel homozygous nonsense mutation in PGAP3 (c.265C>T-p.Gln89*), in a 3-year-old boy with unique novel clinical features. …”
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