HPDL Variant Type Correlates With Clinical Disease Onset and Severity
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
Frequency of ABO and Rh Blood Groups Among Blood Donors in the Hail Region of Saudi Arabia. [PDF]
Eltayeb R.
europepmc +1 more source
IMMUNOCHEMICAL STUDIES ON BACTERIAL BLOOD GROUP SUBSTANCES [PDF]
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
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
Effect of educational interventions addressing blood groups and donation aspects on the knowledge and attitude of allied health sciences students. [PDF]
Saqlain N, Habib H, Riaz S, Hareem S.
europepmc +1 more source
CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction
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]
Alshehri AA+15 more
europepmc +1 more source
DISTRIBUTION OF BLOOD GROUP PROPERTIES AND BLOOD GROUP PROPERTY DESTROYING FACTORS IN THE INTESTINAL TRACT OF MAN [PDF]
Е. Witebsky, E. Neter
openalex +1 more source