CNTF protects oligodendrocytes from ammonia toxicity: Intracellular signaling pathways involved
In pediatric patients, hyperammonemia can provoke irreversible damages to developing CNS like cortical atrophy, ventricular enlargement, demyelination or gray and white matter hypodensities which are concordant with alterations of neurons and ...
Laurène Cagnon, Olivier Braissant
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Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism. [PDF]
Peter T. Clayton+5 more
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D-Glyceric Acidemia: An Inborn Error Associated with Fructose Metabolism [PDF]
M. Durán+4 more
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Role of caspases, calpain and cdk5 in ammonia-induced cell death in developing brain cells
Hyperammonemia in neonates and infants causes irreversible damages in the developing CNS due to brain cell loss. Elucidating the mechanisms triggering ammonia-induced cell death in CNS is necessary for the development of neuroprotective strategies.
Laurène Cagnon, Olivier Braissant
doaj
ACP Broadsheet 120: January 1989. Guide to diagnosis of inborn errors of metabolism in district general hospitals. [PDF]
A Green
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In Reply: Revised Method of Proton NMR Urinalysis for Detecting Inborn Errors of Metabolism: a Critique [PDF]
Shuichi Yamaguchi
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The Laboratory Diagnosis of Selected Inborn Errors of Metabolism [PDF]
J. B. Holton
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Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism. [PDF]
Marie S. Buchmann+6 more
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Selective screening for inborn errors of metabolism-past, present and future [PDF]
Gustav Hoffmann
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