Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis.
about
A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.Ketone body metabolism and its defects.Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis.Inborn errors of ketogenesis and ketone body utilization.Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry.Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene: study on intermediates of OXCT1 transcripts in fibroblasts.Inborn errors of ketone body utilization.A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.
P2860
Q34328420-83B1E3FD-0DC6-470A-A019-56882D295A29Q34413875-CFCB9A5A-01A3-49E7-9A85-1F4EA6C9CC40Q37329265-07E43FB8-9924-4242-AC16-D9742FF949B0Q37863517-B79F0E25-830D-47CA-9A08-1EF7F21F6AF5Q38684866-29BB3D29-A5C3-4B99-B6B8-CF89EA24512DQ42070863-FCFC6414-F0D3-4B60-B7BA-12DDD63D47F6Q46622103-CA3FAB80-ED83-4D7D-8321-286FB6EEF64EQ51309965-7E3E4D37-229D-4294-8BFB-4CF8FF60082EQ55053103-429664C5-4E2A-4C15-A3DA-FBEB7787AE01
P2860
Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis.
description
2004 nî lūn-bûn
@nan
2004 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Patients homozygous for the T4 ...... do not show permanent ketosis.
@ast
Patients homozygous for the T4 ...... do not show permanent ketosis.
@en
Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase
@nl
type
label
Patients homozygous for the T4 ...... do not show permanent ketosis.
@ast
Patients homozygous for the T4 ...... do not show permanent ketosis.
@en
Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase
@nl
prefLabel
Patients homozygous for the T4 ...... do not show permanent ketosis.
@ast
Patients homozygous for the T4 ...... do not show permanent ketosis.
@en
Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase
@nl
P2093
P2860
P1433
P1476
Patients homozygous for the T4 ...... do not show permanent ketosis.
@en
P2093
Gai X Zhang
Haruo Shintaku
Kozue Nakamura
Masashi Kondo
Naomi Kondo
Ryou Kusubae
Toshiyuki Fukao
P2860
P304
P356
10.1203/01.PDR.0000145297.90577.67
P407
P577
2004-10-20T00:00:00Z
P6179
1024574271