क्यूआर कोड

Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom

Abstract Background Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, are a group of inherited neurodegenerative disorders that mostly arise in childhood. Each of the NCLs is a genetically distinct disease caused by variants in at least 13 different genes (CLN1–CLN14). NCLs are ne...

पूर्ण विवरण

में बचाया:
मुख्य लेखकों: Sara E. Mole, Paul Gissen, Shannon Nordstrom, Suzanne Wait, Louise Allen, Mathilda Antonini, Liz Brownnutt, Richard Brown, Barbara Cole, Frances Gibbon, Robert H. Henderson, Sarah Kenrick, Zlatko Sisic, Bob Thompson, Joanna Nightingale
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BMC 2025-05-01
श्रृंखला:Orphanet Journal of Rare Diseases
विषय:
Batten disease
Neuronal ceroid lipofuscinoses
CLN2 disease
CLN3 disease
Parents
Siblings
ऑनलाइन पहुंच:https://doi.org/10.1186/s13023-025-03747-8
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