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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.
Kayani S, BordesEdgar V, Lowden A, Nettesheim ER, Dahshi H, Messahel S, Minassian BA, Greenberg BM. Kayani S, et al. Among authors: dahshi h. Orphanet J Rare Dis. 2024 Dec 19;19(1):468. doi: 10.1186/s13023-024-03448-8. Orphanet J Rare Dis. 2024. PMID: 39702211 Free PMC article.
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.
Kayani S, Edgar VB, Lowden A, Nettesheim ER, Dahshi H, Messahel S, Minassian BA, Greenberg BM. Kayani S, et al. Among authors: dahshi h. Res Sq [Preprint]. 2024 Jun 26:rs.3.rs-3983366. doi: 10.21203/rs.3.rs-3983366/v1. Res Sq. 2024. Update in: Orphanet J Rare Dis. 2024 Dec 19;19(1):468. doi: 10.1186/s13023-024-03448-8 PMID: 38978590 Free PMC article. Updated. Preprint.
ECHS1 deficiency and its biochemical and clinical phenotype.
Ozlu C, Chelliah P, Dahshi H, Horton D, Edgar VB, Messahel S, Kayani S. Ozlu C, et al. Among authors: dahshi h. Am J Med Genet A. 2022 Oct;188(10):2908-2919. doi: 10.1002/ajmg.a.62895. Epub 2022 Jul 20. Am J Med Genet A. 2022. PMID: 35856138