Aminoacylase I deficiency: a novel inborn error of metabolism.
about
The Secreted Enzyme PM20D1 Regulates Lipidated Amino Acid Uncouplers of MitochondriaAminoacylase 1 deficiency associated with autistic behavior.Aminoacylase I deficiency due to ACY1 mRNA exon skipping.Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum.Dissecting the pretransitional conformational changes in aminoacylase I thermal denaturationMonitoring the health to disease continuum with global metabolic profiling and systems biology.Detection of N-acetyl methionine in human and murine brain and neuronal and glial derived cell lines.Metabolomic profiling reveals differential effects of glucagon-like peptide-1 and insulin on nutrient partitioning in ovine liver.Identifying hypoxia in a newborn piglet model using urinary NMR metabolomic profiling.Inhibition of aminoacylase 3 protects rat brain cortex neuronal cells from the toxicity of 4-hydroxy-2-nonenal mercapturate and 4-hydroxy-2-nonenal.Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.
P2860
Q28115102-646B2AA9-513D-4728-B6F8-B19670B5EE6BQ34116072-C135EEF1-A79F-4FE7-9BC1-E7CC34153329Q34377135-A908B0B3-A7BA-4B01-9E27-59757E36D167Q34457714-A0621488-06B5-4AF3-8F97-1A13B8F1540BQ35545503-6C841326-2A20-4C74-AA94-9CA080326B80Q36630002-428DEBFE-D927-4404-968E-95F24EF9D669Q39545976-A89D27BB-A54A-43EB-875A-97FC2AFFC377Q39909178-3F5C1BFE-4DFA-4522-A09E-606FBC8B9C69Q41332782-5EE31696-8ECB-47F4-AB9A-E062F29BA0C0Q41553884-899FF4E7-BC47-4980-98A5-55B80F16BD5FQ49125039-91AA0B32-5798-4F60-BD91-D4131E47144E
P2860
Aminoacylase I deficiency: a novel inborn error of metabolism.
description
2005 nî lūn-bûn
@nan
2005 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Aminoacylase I deficiency: a novel inborn error of metabolism.
@ast
Aminoacylase I deficiency: a novel inborn error of metabolism.
@en
Aminoacylase I deficiency: a novel inborn error of metabolism.
@nl
type
label
Aminoacylase I deficiency: a novel inborn error of metabolism.
@ast
Aminoacylase I deficiency: a novel inborn error of metabolism.
@en
Aminoacylase I deficiency: a novel inborn error of metabolism.
@nl
prefLabel
Aminoacylase I deficiency: a novel inborn error of metabolism.
@ast
Aminoacylase I deficiency: a novel inborn error of metabolism.
@en
Aminoacylase I deficiency: a novel inborn error of metabolism.
@nl
P2093
P50
P1476
Aminoacylase I deficiency: a novel inborn error of metabolism
@en
P2093
De Meirleir LJ
De Praeter CM
Engelke UF
Giardina TG
Meersschaut VA
Perrier JP
P304
P356
10.1016/J.BBRC.2005.10.126
P407
P577
2005-11-02T00:00:00Z