Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers [PDF]
, 2018 While it was thought that most of cerebral creatine is of peripheral origin, AGAT and GAMT are well expressed in CNS where brain cells synthesize creatine.
Braissant, Olivier
core
Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations
European Journal of Human Genetics, 2016 J. Stephen +17 more
semanticscholar +1 more source
Neural mechanisms and clinical features of anti‐influenza drug‐related psychiatric adverse events
VIEW, EarlyView.Anti–influenza drugs, while essential, have been increasingly associated with psychiatric adverse events (pAEs). Our study systematically investigated these pAEs by utilizing large pharmacovigilance databases and animal models, thereby revealing key clinical features and underlying neural mechanisms.
Anqi Lin +9 more
wiley +1 more source
Book Review: Phenylketonuria and Some other Inborn Errors of Amino Acid Metabolism [PDF]
, 1972 D. N. Raine
openalex +1 more source
World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.ABSTRACT Objective Assessment of olfactory function with psychophysical testing requires cognitive demand to correctly pair test odors with remembered scents. Individuals suffering from long‐Corona Virus Disease 2019 (long‐COVID‐19) may develop a decline in neurocognitive performance, which may be concurrent with persistent olfactory dysfunction (OD ...
Jeremy P. Tervo +12 more
wiley +1 more source
Book Review: Inborn Errors of Calcium and Bone Metabolism [PDF]
, 1977 B. E. C. Nordin
openalex +1 more source
CD38‐Targeting Peptide Vaccine Ameliorates Aging‐Associated Phenotypes in Mice
Aging Cell, EarlyView.Shangcheng Yu et al. revealed that CD38‐targeting peptide vaccine ameliorated aging‐associated physical and cognitive phenotypes in mice. CD38‐vaccine selectively depletes CD38+ myeloid cells, improves glucose tolerance, and enhances oxygen consumption.
Shangcheng Yu +10 more
wiley +1 more source
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases. [PDF]
Mol Genet Genomic Med, 2020 Weber Hoss GR +3 more
europepmc +1 more source
Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.
Archives of Disease in Childhood, 1967 V. Oberholzer +3 more
semanticscholar +1 more source
The Transcriptome Trajectory Reveals Sex‐ and Age‐Dependent Changes in the Mouse Adrenal Gland
Aging Cell, EarlyView.This comprehensive RNA‐seq dataset reveals the sex‐ and age‐dependent gene expression profile of the mouse adrenal gland. It helps identify novel marker genes of the adrenal inner cortex, offering new insights into the organ's development and aging process.
Hui Wang +4 more
wiley +1 more source