6 Result(s)
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Daniel Ebrahimi-Fakhari
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Article
Open AccessPrevalence of thoracoabdominal imaging findings in tuberous sclerosis complex
Tuberous sclerosis complex (TSC) results in neurodevelopmental phenotypes, benign tumors, and cysts throughout the body. Recent studies show numerous rare findings in TSC. Guidelines suggest routine abdominal ...
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Article
Open AccessEfficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients’ Perspectives
The approval of everolimus (EVE) for the treatment of angiomyolipoma (2013), subependymal giant cell astrocytoma (2013) and drug-refractory epilepsy (2017) in patients with tuberous sclerosis complex (TSC) rep...
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Article
Nichtgehfähige Patienten mit Duchenne-Muskeldystrophie
Die Duchenne-Muskeldystrophie (DMD) ist eine X‑chromosomal-rezessiv vererbte neuromuskuläre Erkrankung, die bei betroffenen Jungen ohne Steroidmedikation im Mittel im Alter von 9,5 Jahren zum Gehverlust führt.
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Article
Open AccessCorrection to: Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study
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Article
Open AccessIncidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study
Tuberous Sclerosis Complex (TSC) is a rare multisystem disorder. In 2012 diagnostic criteria for TSC were revised. However, data on the incidence of TSC are limited.
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Article
Open AccessTopical Rapamycin for Facial Angiofibromas in a Child with Tuberous Sclerosis Complex (TSC): A Case Report and Long-Term Follow-up
Tuberous sclerosis complex (TSC) is a genetic multisystem disorder with prominent skin involvement including facial angiofibromas that often appear in early childhood. Here we report the case of a 12-year-old ...
