First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease

Overview of attention for article published in BMC Medical Genomics, June 2020

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37yo♀️"chronic hand⚡" System review✔️ FHx✔️ no synovitis ⚗️✔️proteinuria 1g eGFR/crea✔️ 🔬mesangial IgA vacuol podocytes 🔑 neuropathic acroparesthesia❗(initially misinterpreted) angiokeratoma 🧬GLA mutat ◾Fabry dz 5yrs f/u: ACE proteinuria 0.3 https://

15 Sep 2023

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37yo♀️chronic hand⚡ 🆕proteinuria 1g eyes/heart/brain✔️ eGFR/crea✔️ 🔬mesangial IgA vacuol podocytes = FD 🔑 (ex post) neuropathic acroparesthesia. angiokeratoma 🧬GLA ◾Fabry dz 5yrs f/u: ACE proteinuria 0.3 https://t.co/pPup0ynJeo https://t.co/OlcdPMqxem

07 Mar 2022

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