Results 211 to 220 of about 202,258 (245)

The Real Life of Ataxia Patients Without a Vertical Family History: a Twenty-year Experience in South Brazil. [PDF]

open access: yesCerebellum
Aschoff CAM   +14 more
europepmc   +1 more source

Normal cholestanol in a genetically confirmed cerebrotendious xanthomatosis case presenting as neonatal jaundice

open access: yesJPGN Reports, EarlyView.
Abstract Cerebrotendinous xanthomatosis (CTX) is a treatable genetic disorder associated with deficiency of the sterol 27‐hydroxylase enzyme (CYP27A1), important in bile acid synthesis. CTX may present in the newborn period as hepatic jaundice/cholestasis, that can resolve or can progress to fatal liver disease.
Andrea E. DeBarber   +3 more
wiley   +1 more source

Ataxia patient care pathway and associated healthcare costs in Italy: a cross-sectional survey. [PDF]

open access: yesNeurol Sci
Vallortigara J   +8 more
europepmc   +1 more source

Motor Improvements Following Non-Invasive Brain Stimulation with kTMP: A Case Study of Cerebellar Stroke. [PDF]

open access: yesCerebellum
Chirino-Pérez A   +5 more
europepmc   +1 more source

Proteomics in Ataxia Telangiectasia Fibroblasts Revealed Disease Hallmarks Recovered by ATM Variants. [PDF]

open access: yesInt J Mol Sci
Ricci A   +7 more
europepmc   +1 more source

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