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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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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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Gastrointestinal involvement in Fabry disease
Open Access Review 28 Mar 2024
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Cerebrovascular disorders and Fabry disease
Open Access Review 24 Mar 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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Newborn screening in South Africa: the past, present, and plans for the future
Open Access Commentary 28 Feb 2024
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ERCAL, a regional initiative for rare diseases in Latin America and the Caribbean
Open Access Perspective 26 Feb 2024
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Review of methods for estimating the prevalence of rare diseases
Open Access Review 17 Feb 2024
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Investigating Fabry disease - some lessons learned
Open Access Review 22 Jan 2024
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Management of sleep problems in people with autism: an updated review
Open Access Review 15 Jan 2024
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Overcoming challenges in sustaining newborn screening in low-middle-income countries: the Philippine newborn screening system
Open Access Perspective 10 Dec 2023
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The Australian landscape of newborn screening in the genomics era
Open Access Review 23 Nov 2023
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Pharmacovigilance of gene therapy medicinal products
Open Access Review 22 Nov 2023
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Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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