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<span class="word">Phenotypic <span class="word">Variability <span class="word">of <span class="word">Kidney <span class="word">Involvement <span class="word">in <span class="word">Fabry <span class="word">Disease—<span class="word">Lessons <span class="word">from <span class="word">a <span class="word"><span class="changedDisabled">Family <span class="word"><span class="changedDisabled">Study

2026-04-22

Abstract excerpt

Fabry disease is an X-linked lysosomal storage disease that leads to the intracellular ac-cumulation of glycosphingolipids in many tissues and fluids, including the kidney. We report a single family with Fabry disease that includes 7 patients carrying the path-ogenic variant c.797A>C in the GLA gene, with remarkable variability of kidney in-volvement, assessed based on the clinical, biological and histological...

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Literature Corpus work: d591ae0b-cec7-52bf-8df7-72a403bf60ae
DOI: 10.20944/preprints202604.1487.v1

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<span class="word">Phenotypic <span class="word">Variability <span class="word">of <span class="word">Kidney <span class="word">Involvement <span class="word">in <span class="word">Fabry <span class="word">Disease—<span class="word">Lessons <span class="word">from <span class="word">a <span class="word"><span class="changedDisabled">Family <span class="word"><span class="changedDisabled">StudyDOI 10.20944/preprints202604.1487.v1Read

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