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Publications by P Mooy
Successful Treatment of Severe Carbamyl Phosphate Synthetase I Deficiency.
Archives of Disease in Childhood
Child Health
Pediatrics
Perinatology
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Dietary Calorie Restriction in Mice Induces Carbamyl Phosphate Synthetase I Gene Transcription Tissue Specifically
Journal of Biological Chemistry
Biochemistry
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Biochemical and Genetic Characterization of a Carbamyl Phosphate Synthetase Mutant of Escherichia Coli K12
Journal of General Microbiology
Activity of the Carbamyl Phosphate Synthetase I Promoter in Liver Nuclear Extracts Is Dependent on a Cis-Acting C/Ebp Recognition Element.
Molecular and Cellular Biology
Cell Biology
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Carbamoyl Phosphate Synthetase 1 Deficiency Diagnosed by Whole Exome Sequencing
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Redefining Successful Treatment of Severe Alcoholic Hepatitis
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Molecular, Biochemical, and Clinical Analyses of Five Patients With Carbamoyl Phosphate Synthetase 1 Deficiency
Journal of Clinical Laboratory Analysis
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Cirrhosis Associated With Pyridoxal 5′-Phosphate Treatment of Pyridoxamine 5′-Phosphate Oxidase Deficiency
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
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Diabetes
Use of Placental Cord Serum in Cultures of Human Fetal Hepatocytes: Its Assessment With Carbamyl Phosphate Synthetase and Argininosuccinate Lyase as Marker Enzymes.
Journal of Clinical Biochemistry and Nutrition
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Lipoic Acid Synthetase Deficiency
