scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1001767845 |
P356 | DOI | 10.1007/S11011-015-9778-6 |
P698 | PubMed publication ID | 26686503 |
P2093 | author name string | Corinne Gemperle-Britschgi | |
Bart P C van de Warrenburg | |||
Ron A Wevers | |||
Jörn Oliver Sass | |||
Leo A J Kluijtmans | |||
Cathérine C S Delnooz | |||
Jathana Vaithilingam | |||
P2860 | cites work | Protein measurement with the Folin phenol reagent | Q20900776 |
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism | Q24540665 | ||
Essential roles of zinc ligation and enzyme dimerization for catalysis in the aminoacylase-1/M20 family | Q27641892 | ||
Aminoacylase 1 deficiency associated with autistic behavior | Q34116072 | ||
The molecular basis of aminoacylase 1 deficiency | Q34171465 | ||
Aminoacylase I deficiency due to ACY1 mRNA exon skipping. | Q34377135 | ||
Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum | Q34457714 | ||
Aminoacylase I deficiency: a novel inborn error of metabolism. | Q34465848 | ||
Neurological findings in aminoacylase 1 deficiency | Q34636590 | ||
Aminoacylase 1 is a sphingosine kinase 1-interacting protein | Q40545434 | ||
Aminoacylases | Q40693491 | ||
Proteomics-based identification of the tumor suppressor role of aminoacylase 1 in hepatocellular carcinoma | Q42214523 | ||
Tracing the origin of L-2-hydroxyglutaric aciduria in a family | Q43253495 | ||
Genome-wide analysis identifies a tumor suppressor role for aminoacylase 1 in iron-induced rat renal cell carcinoma. | Q46231620 | ||
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism | Q48160731 | ||
Comparative proteomics in neurodegenerative and non-neurodegenerative diseases suggest nodal point proteins in regulatory networking | Q48454732 | ||
The distribution of aminoacylase I among mammalian species and localization of the enzyme in porcine kidney | Q73572129 | ||
P433 | issue | 3 | |
P304 | page(s) | 587-592 | |
P577 | publication date | 2015-12-19 | |
P1433 | published in | Metabolic Brain Disease | Q15764352 |
P1476 | title | Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia | |
P478 | volume | 31 |
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