Results 241 to 250 of about 17,835,682 (353)

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

IMMUNOCHEMICAL STUDIES ON BACTERIAL BLOOD GROUP SUBSTANCES [PDF]

open access: bronze, 1959
Shoei ISEKI   +2 more
openalex   +1 more source

A 14‐Year Study of Serum Glial Fibrillary Acidic Protein and Total Tau in Premanifest Huntington's

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT There is a pressing need for blood biomarkers that can identify Huntington's disease (HD) gene carriers' proximity to manifest disease. We previously examined serial serum neurofilament light (NfL) concentrations in 21 premanifest HD gene carriers and 14 controls over 14 years, finding that NfL demonstrates high prognostic value and distinct ...
Natalia E. Owen   +8 more
wiley   +1 more source

CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu   +12 more
wiley   +1 more source

Serological markers of transfusion transmissible infections and ABO blood groups in Najran, Saudi Arabia. [PDF]

open access: yesSaudi Med J
Alshehri AA   +15 more
europepmc   +1 more source

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