All Articles

Long-term treatment with insulin-like growth factor-1 in Phelan-McDermid syndrome: a case report

Biomarkers in anderson-Fabry disease: what should we use in the clinical practice?

Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative

The inflammatory pathogenetic pathways of Fabry nephropathy

Gastrointestinal involvement in Fabry disease

Cerebrovascular disorders and Fabry disease

Paradox of possibilities: the rare landscape in the Asia Pacific Region

Newborn screening in South Africa: the past, present, and plans for the future

ERCAL, a regional initiative for rare diseases in Latin America and the Caribbean

Review of methods for estimating the prevalence of rare diseases

Investigating Fabry disease - some lessons learned

Management of sleep problems in people with autism: an updated review

Light chain (AL) amyloidosis following gastrointestinal symptoms that involve multiple organs: a case report

Bumetanide to treat autism spectrum disorders: are complex administrative regulations fit to treat heterogeneous disorders?

The international rare disease research consortium (IRDiRC): making rare disease research efforts more efficient and collaborative around the world

Overcoming challenges in sustaining newborn screening in low-middle-income countries: the Philippine newborn screening system

The Australian landscape of newborn screening in the genomics era

Pharmacovigilance of gene therapy medicinal products