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What influences changes in gait spatiotemporal parameters in boys with Duchenne Muscular Dystrophy? Focusing on contractures, muscle strength, and gait deviations
Open Access Original Article 9 Jul 2025
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Inherently inapt: the role of innate immunity in systemic lupus erythematosus pathogenesis
Open Access Review 25 Jun 2025
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Managing pregnancy in women with sickle cell disease: a focus on physiopathology, risks, and multidisciplinary care
Open Access Review 24 Jun 2025
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Growth hormone and Prader-Willi syndrome: experience and perspective
Open Access Review 23 Jun 2025
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A contemporary treatment regimen normalizes muscle mass and adult height in children with Prader-Willi syndrome - a longitudinal analysis
Open Access Original Article 9 Jun 2025
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Potential barriers to reverse cascade screening combined with universal cholesterol screening for paediatric familial hypercholesterolemia: focus on second-degree relatives of a proband
Open Access Original Article 8 May 2025
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Measurement of Achilles tendon thickness using ultrasonography for diagnosis and risk assessment in patients with familial hypercholesterolemia
Open Access Review 23 Apr 2025
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Exploring new therapeutics for Duchenne muscular dystrophy and related cardiomyopathy
Open Access Review 2 Apr 2025
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Rare diseases clinical trials toolbox - public resources and main considerations to set up a clinical trial on medicinal products for humans in Europe
Open Access Original Article 20 Mar 2025
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The novel SCD MED ALERT mHealth app: empowering patients with sickle cell disease
Open Access Original Article 17 Mar 2025
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Lymphedema and erysipelas in patients with classic Fabry disease: a retrospective case series
Open Access Original Article 11 Mar 2025
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The necessity for skeletal muscle contractile assays to assess treatment efficacy in DMD
Open Access Review 4 Mar 2025
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Organellar crosstalk as a potential therapeutic target for rare neurodegenerative diseases
Open Access Review 27 Feb 2025
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Long-term impact of corticosteroid therapy on adult height in juvenile myasthenia gravis patients: a retrospective multicenter cohort study
Open Access Original Article 25 Feb 2025
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Fabry disease in women: beyond the role of “carriers”
Open Access Review 24 Feb 2025
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