Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Annual review 2010 - Centre for Effective Services [PDF]
Centre for Effective Services (CES)
core
From rule-taking to rule-making chemistry: a minimal population-environment feedback model. [PDF]
Blanco C.
europepmc +1 more source
Association Between Motor Pathway Damage and Motor Deficit in Upper and Lower Limb in People With MS
ABSTRACT Objective Corticospinal tract damage is common in people with MS, but the degree of clinical symptoms varies. We hypothesize that corticospinal tract lesions are more extensive and severe in people with MS with motor impairments in both upper and lower limbs.
Mathilde Liffran +13 more
wiley +1 more source
Casimir-mediated amplification of flexural modes in suspended graphene. [PDF]
Ribeiro S, Terças H.
europepmc +1 more source
Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
Labetalol, Nifedipine, and Methyldopa for the Management of Hypertensive Disorders in Pregnancy in Iran: A Cost-Effectiveness Analysis. [PDF]
Goudarzi Z, Nouhi M, Bordbar N.
europepmc +1 more source
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Integrating Disease Burden and Cost-Effectiveness for Value-Based Prioritisation of COPD Interventions: A Narrative Review. [PDF]
Zhang R, Yang L, Jing D, Chen L.
europepmc +1 more source

