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Characterizing individuals with elevated sweat chloride results in the absence of CFTR variants.
Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1.
🥉 Relato de caso'You constantly have to be switched on': A qualitative interview study of parents of children with STXBP1-related disorders in the Netherlands.
Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills.
Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.