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Incorporating a new disease in the newborn screening programs in Europe: the spinal muscular atrophy case study
Open Access Opinion 1 Jul 2024
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Longitudinal biomarker evaluation in Fabry disease patients receiving lentivirus-mediated gene therapy
Open Access Original Article 26 Jun 2024
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The European joint programme on rare diseases: building the rare diseases research ecosystem
Open Access Perspective 23 Jun 2024
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Newborn screening in Mexico and Latin America: present and future
Open Access Perspective 23 Jun 2024
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The division of rare diseases research innovation at the national center for advancing translational sciences, NIH: mission, history, and current research activities
Open Access Perspective 2 Jun 2024
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Long-term treatment with insulin-like growth factor-1 in Phelan-McDermid syndrome: a case report
Open Access Case Report 5 May 2024
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Biomarkers in anderson-Fabry disease: what should we use in the clinical practice?
Open Access Review 24 Apr 2024
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Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative
Open Access Opinion 23 Apr 2024
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The inflammatory pathogenetic pathways of Fabry nephropathy
Open Access Review 17 Apr 2024
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Paradox of possibilities: the rare landscape in the Asia Pacific Region
Open Access Perspective 28 Feb 2024
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