EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
3.5.1.6 | beta-ureidopropionase deficiency |
11675655 |
beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine. |
unassigned |
0 |
3.5.1.6 | beta-ureidopropionase deficiency |
11746386 |
3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis. |
causal interaction unassigned |
3 0 |
3.5.1.6 | beta-ureidopropionase deficiency |
11783492 |
Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency. |
causal interaction unassigned |
4 0 |
3.5.1.6 | beta-ureidopropionase deficiency |
11804209 |
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level. |
causal interaction diagnostic usage unassigned |
3 3 0 |
3.5.1.6 | beta-ureidopropionase deficiency |
12271438 |
Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine. |
causal interaction diagnostic usage unassigned |
4 4 0 |
3.5.1.6 | beta-ureidopropionase deficiency |
12450676 |
Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry. |
causal interaction diagnostic usage unassigned |
3 1 0 |
3.5.1.6 | beta-ureidopropionase deficiency |
15385443 |
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. |
causal interaction diagnostic usage unassigned |
4 3 0 |
3.5.1.6 | beta-ureidopropionase deficiency |
16417553 |
beta-Ureidopropionase Deficiency Presenting with Febrile Status Epilepticus. |
causal interaction unassigned |
4 0 |
3.5.1.6 | beta-ureidopropionase deficiency |
16541364 |
Clinical Findings and a Therapeutic Trial in the First Patient with beta-Ureidopropionase Deficiency. |
causal interaction therapeutic application unassigned |
4 4 0 |
3.5.1.6 | beta-ureidopropionase deficiency |
17065070 |
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency. |
causal interaction diagnostic usage unassigned |
4 2 0 |