Results 211 to 220 of about 2,118,431 (433)

Estimating optimal tailored active surveillance strategy under interval censoring [PDF]

open access: yesarXiv
Active surveillance (AS) using repeated biopsies to monitor disease progression has been a popular alternative to immediate surgical intervention in cancer care. However, a biopsy procedure is invasive and sometimes leads to severe side effects of infection and bleeding.
arxiv  

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs   +8 more
wiley   +1 more source

Jejunal Biopsy in Childhood [PDF]

open access: green, 1964
B McNicholl, Bridget Egan
openalex   +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee   +19 more
wiley   +1 more source

Accuracy of multiparametric magnetic resonance imaging to detect significant prostate cancer and index lesion location [PDF]

open access: yes, 2018
Background: Multiparametric magnetic resonance imaging (mpMRI) of the prostate appears to improve prostate cancer detection, but studies comparing mpMRI to histopathology at the time of radical prostatectomy (RP) are lacking.
Duncan, Ian   +6 more
core   +1 more source

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Identifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish clinical trial readiness in the context of anticipated therapeutic trials.
Stephanie M. Hunn   +29 more
wiley   +1 more source

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