The latest scientific data and expert insights delivered to you

Supporting healthcare professionals worldwide with best practice for the early and accurate diagnosis and management of rare diseases – providing you with the latest scientific data and expert insights on the diagnosis and management of a range of rare diseases across neuromuscular, central nervous system and other areas

MED-ALL-CORP-2200029 | October 2023
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Phenylketonuria (PKU)
20/11/2024
Publication: Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with...
Aromatic L-amino acid decarboxylase (AADC) deficiency
17/01/2024
Publication: Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up
The Society for the Study of Inborn Errors of Metabolism (SSIEM)
23/10/2024
SSIEM 2024 symposium: Unlocking new possibilities in phenylketonuria
Duchenne muscular dystrophy (DMD)
08/01/2024
Publication: Prednisone and deflazacort in Duchenne muscular dystrophy: A patient perspective and plain language summary publication...
Society for Inherited Metabolic Disorders (SIMD)
08/10/2024
SIMD 2024 symposium: Advancing care for PKU: Results from the Phase 3 APHENITY trial
Duchenne muscular dystrophy (DMD)
21/12/2022
Interactive case study: Oliver’s diagnostic journey
Society for Inherited Metabolic Disorders (SIMD)
20/09/2024
SIMD 2024 poster: Preliminary results from the ongoing APHENITY extension study: Sepiapterin reduces blood Phe with...
Aromatic L-amino acid decarboxylase (AADC) deficiency
24/01/2022
International Symposium on Paediatric Movement Disorders (ISPMD)
Just added
Phenylketonuria (PKU)
20/11/2024
Publication: Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with...
The Society for the Study of Inborn Errors of Metabolism (SSIEM)
23/10/2024
SSIEM 2024 symposium: Unlocking new possibilities in phenylketonuria
Society for Inherited Metabolic Disorders (SIMD)
08/10/2024
SIMD 2024 symposium: Advancing care for PKU: Results from the Phase 3 APHENITY trial
Society for Inherited Metabolic Disorders (SIMD)
20/09/2024
SIMD 2024 poster: Preliminary results from the ongoing APHENITY extension study: Sepiapterin reduces blood Phe with...
Top content
Aromatic L-amino acid decarboxylase (AADC) deficiency
17/01/2024
Publication: Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up
Duchenne muscular dystrophy (DMD)
08/01/2024
Publication: Prednisone and deflazacort in Duchenne muscular dystrophy: A patient perspective and plain language summary publication...
Duchenne muscular dystrophy (DMD)
21/12/2022
Interactive case study: Oliver’s diagnostic journey
Aromatic L-amino acid decarboxylase (AADC) deficiency
24/01/2022
International Symposium on Paediatric Movement Disorders (ISPMD)

Central Nervous System

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Metabolism

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Neuromuscular

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MED-ALL-CORP-2200029 | October 2023

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