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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.
2017
2017
Glucose-6-phosphate Dehydrogenase Deficiency: A Case Report
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzyme disorder and more than 200 million… 
2004
2004
Rapid detection of six common Chinese G6PD mutations by MALDI-TOF MS.
2003
2003
Ammonia Induced Encephalopathy from Valproic Acid in a Bipolar Patient: Case Report
Valproic acid is widely used as a mood stabilizer. We report a case of an adult with bipolar disorder taking therapeutic doses of… 
Review
1994
Review
1994
[A case of adenine phosphoribosyltransferase (APRT) deficiency discovered by urine examination].
APRT deficiency is an enzyme disorder which is inherited as an autosomal recessive trait. The use of adenine in purine metabolism… 
1993
1993
Angiokeratoma Corporis Diffusum With Glycopeptiduria due to Deficient Lysosomal a-N-Acetylgalactosaminidase Activity: Clinical, Morphologic, and Biochemical Studies
• Background.— Angiokeratoma corporis diffusum is a prominent cutaneous feature of certain lysosomal storage diseases. In this… 
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… 
1981
1981
Comparative patterns of ‘in vitro’ oxidative hemolysis of normal and glucose 6‐phosphate dehydrogenase (G6PD)‐deficient erythrocytes
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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