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enzymopathy

Known as: enzyme disorder, disorders enzyme, disorders enzymes 
National Institutes of Health

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Glutamate formiminotransferase deficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases.
2013
2013
Severe hyperbilirubinemia and acute renal failure associated with hepatitis E in a patient whose glucose-6-phosphate dehydrogenase levels were normal
To the Editor Hepatitis E virus (HEV) is the commonest cause of acute viral hepatitis in the world, usually manifesting as a mild… 
2010
2010
Hsp70- and Hsp90-mediated proteasomal degradation underlies TPIsugarkill pathogenesis in Drosophila
2007
2007
Detection of potential enzyme targets by metabolic modelling and optimization: Application to a simple enzymopathy
MOTIVATION A very promising approach in drug discovery involves the integration of available biomedical data through mathematical… 
2004
2004
Rapid detection of six common Chinese G6PD mutations by MALDI-TOF MS.
Highly Cited
2001
Highly Cited
2001
Antioxidant capacity of G-6-PD-deficient erythrocytes.
1988
1988
Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman.
We report the first patient in Finland and Scandinavia with a deficiency of adenine phosphoribosyltransferase (APRT). About 30… 
1978
1978
Reversal of Deafness After Renal Transplantation in Alport's Syndrome
Six patients (five men and one woman) with Alport's syndrome underwent successful renal transplantation (four received kidneys… 
1971
1971
Erythrocyte glutathione peroxidase deficiency. Biochemical studies on the mechanisms of drug-induced hemolysis.
1958
1958
Further research on the activity of ribonucleases in the blood and urine of patients suffering from proliferative hemocytopathia.
1. A simple quantitative method (based on McCarty’s method) of measuring the RN-ase activity in urine and blood is presented. 2… 
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