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内部出版物
SpringerLink电子期刊(2)
Elsevier电子期刊(4)
在“
Elsevier电子期刊
”中,
命中:
4
条,耗时:小于0.01 秒
在所有数据库中总计命中:
6
条
1.
Neonatal
multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules
作者:
Nancy Leslie
;
MD
;
Xinjian Wang
;
PhD
;
Yanyan Peng
;
MS
;
C. Alexander Valencia
;
PhD
;
Zaza Khuchua
;
PhD
;
Jessica Hata
;
MD
;
David Witte
;
MD
;
Taosheng Huang
;
MD
;
PhD
;
Kevin E. Bove
;
MD
;
kevin.bove@uc.edu" class="auth_mail" title="E-mail the corresponding author
;
boveke@ucmail.uc.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Mitochondriopathy
;
Complex I deficiency
;
ACAD9 defect
;
Lethal
neonatal
lactic
acidosis
;
Multiorgan failure
;
Metabolic disease
;
Mitochondrial hyperplasia
;
Whole-exome sequencing
刊名:Human Pathology
出版年:2016
2.
Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in
lethal
neonatal
acidosis
, multi-organ failure, and interrupted aortic arch
作者:
Henry Rivera
;
Begoñ
;
a Merinero
;
Mercedes Martinez-Pardo
;
Ignacio Arroyo
;
Pedro Ruiz-Sala
;
Belen Bornstein
;
Clara Serra-Suhe
;
Esther Gallardo
;
Ramon Marti
;
Maria J. Moran
;
Cristina Ugalde
;
Luis A.
关键词:
Mitochondrial DNA depletion
;
Succinate-CoA ligase
;
Mitochondrial respiratory chain deficiency
;
Methylmalonic aciduria
;
Interrupted aortic arch
;
Lactic
acidosis
刊名:Mitochondrion
出版年:2010
3.
Assignment of the Locus for a New
Lethal
Neonatal
Metabolic Syndrome to 2q33-37
作者:
Ilona Visapä
;
ä
;
Vineta Fellman
;
Teppo Varilo
;
Aarno Palotie
;
Kari O. Raivio
;
Leena Peltonen
刊名:The American Journal of Human Genetics
出版年:1998
4.
Iron-overload disease in infants involving fetal growth retardation,
lactic
acidosis
, liver haemosiderosis, and aminoaciduria
作者:
Fellman
;
Vineta
;
Rapola
;
Juhani
;
Pihko
;
Helena
;
Varilo
;
Teppo
;
Raivio
;
Kari O
刊名:The Lancet
出版年:1998
1
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2010年(1)
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