Rare Disease Day: insights into rare neurological diseases
To mark Rare Disease Day (28 February 2023), we’ve compiled a list of recent articles from our partnered journals that span across neuroscience and neurology. From developing therapeutics for degenerative diseases, to insights into a rare adult brain tumor, take a look at what’s new in the field of rare neurological diseases below. All articles are Open Access.
Future Rare Disease
- Plain language summary of a study looking at the age at diagnosis and time to start of treatment in individuals with mucopolysaccharidosis type I (MPS I)
- An international cross-sectional survey to characterize the humanistic burden of creatine transporter deficiency
- Payer–patient engagement framework to strengthen ethical formulary decision-making in rare disease arena in the USA
- Plain language summary: How the Pompe Registry is helping to identify and explain gene changes in Pompe disease
- Coya Therapeutics: enhancing Tregs to treat devastating degenerative diseases
- The global role of patients, advocates and caregivers in rare diseases
- Research and development of oligonucleotide therapeutics in Japan for rare diseases
Future Neurology
- Aromatic L-amino acid decarboxylase deficiency: a systematic review
- A rare case of Corynebacterium accolens isolated from brain abscess following mild nonpenetrating head trauma
- Using the EQ-5D to measure caregiver health-related quality of life in rare pediatric disease: a study in aromatic L-amino acid decarboxylase deficiency
CNS Oncology
- First clinical experience with belzutifan in von Hippel–Lindau disease associated CNS hemangioblastoma
- Insight about the characteristics and surgical resectability of adult pilocytic astrocytoma: tertiary center experience
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