Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency
about
Abbreviated half-lives and impaired fuel utilization in carnitine palmitoyltransferase II variant fibroblastsMuscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical FeaturesClinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.Inborn errors of energy metabolism associated with myopathies.Cardiac mitochondrial proteomic expression in inbred rat strains divergent in survival time after hemorrhage.Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports
P2860
Q28544452-E77DA4FB-E810-49AB-B00B-521C1A95438EQ30313571-098D034D-CC66-4DEA-8309-434BDA609773Q30317947-AD53B6C5-0919-49D6-974E-70D41E085019Q33879587-61E97716-F698-4C78-BD38-0C8DBB0810F8Q39471860-C2C949F1-1FE6-4780-BEDF-DB1B527117D9Q40425971-05760E0F-DBAA-4BE5-9697-FEF3BA69737FQ58699948-CE719B52-DB1B-4432-99AD-54879841E260
P2860
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency
description
2006 nî lūn-bûn
@nan
2006 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Identification of 16 new disea ...... itoyltransferase II deficiency
@ast
Identification of 16 new disea ...... itoyltransferase II deficiency
@en
Identification of 16 new disea ...... itoyltransferase II deficiency
@nl
type
label
Identification of 16 new disea ...... itoyltransferase II deficiency
@ast
Identification of 16 new disea ...... itoyltransferase II deficiency
@en
Identification of 16 new disea ...... itoyltransferase II deficiency
@nl
prefLabel
Identification of 16 new disea ...... itoyltransferase II deficiency
@ast
Identification of 16 new disea ...... itoyltransferase II deficiency
@en
Identification of 16 new disea ...... itoyltransferase II deficiency
@nl
P2093
P1476
Identification of 16 new disea ...... itoyltransferase II deficiency
@en
P2093
Georgirene D Vladutiu
Michael J Bennett
Paul J Isackson
P304
P356
10.1016/J.YMGME.2006.08.004
P407
P577
2006-12-01T00:00:00Z