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Quoted phrase not found in phrase index: "Cerebellar atrophy, visual impairment, and psychomotor retardation;"
Page 1
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
Orphanet J Rare Dis. 2022 Jan 10;17(1):13. doi: 10.1186/s13023-021-02162-z.
Orphanet J Rare Dis. 2022.
PMID: 35012600
Free PMC article.
BACKGROUND: Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation of autofluorescent material (known as lipofuscin), pr …
BACKGROUND: Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediat …
Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
Zelnik N, Dobyns WB, Forem SL, Kolodny EH.
Zelnik N, et al.
Neuroradiology. 1996 Oct;38(7):684-7. doi: 10.1007/s002340050334.
Neuroradiology. 1996.
PMID: 8912329
We report three patients with severe pontocerebellar atrophy (PCA) associated with a variable degree of cerebral atrophy. The clinical features consisted of progressive microcephaly, central hypotonia, visual impairment, abnormal eye movements and dela …
We report three patients with severe pontocerebellar atrophy (PCA) associated with a variable degree of cerebral atrophy. The …
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