Disease on EC 3.5.1.6 - beta-ureidopropionase

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DISEASE
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beta-ureidopropionase deficiency
3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis.
Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems.
beta-Ureidopropionase Deficiency Presenting with Febrile Status Epilepticus.
beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine.
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.
Clinical Findings and a Therapeutic Trial in the First Patient with beta-Ureidopropionase Deficiency.
Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency.
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level.
Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry.
Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome.
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.
NMR-based urinalysis for rapid diagnosis of ?-ureidopropionase deficiency in a patient with Dravet syndrome.
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine.
carbamoyl-phosphate synthase (ammonia) deficiency
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
Carcinoma
Sensitivity of cultured pancreatic carcinoma cells to Acinetobacter glutaminase-asparaginase.
Carcinoma, Ehrlich Tumor
Nitrogen utilization in mice bearing Ehrlich ascites tumor treated with Acinetobacter glutaminase-asparaginase.
Hyperthyroidism
CTF1/NF1 binding site is important in beta myosin heavy chain antisense promoter regulation.
Leukemia
Clinical evaluation of succinylated Acinetobacter glutaminase-asparaginase in adult leukemia.
Leukemia, Myeloid, Acute
Effect of succinylated Acinetobacter glutaminase-asparaginase treatment on an acute myeloid leukemia in the rat (BNML).
Muscle Hypotonia
Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine.
Neoplasms
Nitrogen utilization in mice bearing Ehrlich ascites tumor treated with Acinetobacter glutaminase-asparaginase.
Tissue nitrogen-sparing effect of high protein diet in mice with or without ascites tumor treated with Acinetobacter glutaminase-asparaginase.
Neuroblastoma
Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry.
ornithine carbamoyltransferase deficiency
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
Ornithine Carbamoyltransferase Deficiency Disease
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
Phenylketonurias
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
Propionic Acidemia
3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis.
Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry.
Protein Deficiency
Effect of dietary protein on pyrimidine-metabolizing enzymes in rats.
Status Epilepticus
beta-Ureidopropionase Deficiency Presenting with Febrile Status Epilepticus.