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Wiley电子期刊(4)
NATURE电子期刊(3)
ACS电子期刊(4)
SpringerLink电子期刊(110)
Elsevier电子期刊(211)
在“
SpringerLink电子期刊
”中,
命中:
110
条,耗时:小于0.01 秒
在所有数据库中总计命中:
332
条
1.
Barth
Syndrome
: Connecting Cardiolipin to Cardiomyopathy
作者:
Nikita Ikon
;
Robert O. Ryan
关键词:
Barth
syndrome
;
Cardiolipin
;
Tafazzin
;
Electron transport chain
;
Inner mitochondrial membrane
;
NADH oxidation
;
Cori cycle
;
Lactic acid
;
Organic aciduria
3 ;
Methylglutaconic acid
;
Dilated cardiomyopathy
刊名:Lipids
出版年:2017
2.
Glucose Uptake and Triacylglycerol Synthesis Are Increased in
Barth
Syndrome
Lymphoblasts
作者:
Edgard M. Mejia
;
James C. Zinko
;
Kristin D. Hauff
;
Fred Y. Xu
;
Amir Ravandi…
关键词:
Cardiolipin
;
Metabolism
;
Glucose transport
;
Triacylglycerol synthesis
;
Barth
syndrome
刊名:Lipids
出版年:2017
3.
Identification of
TAZ
mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort
作者:
Jian Wang
;
Ying Guo
;
Meirong Huang
;
Zhen Zhang…
关键词:
Barth
syndrome
;
TAZ
;
Cardiomyopathy
;
Targeted next generation sequencing
刊名:Orphanet Journal of Rare Diseases
出版年:2017
4.
Clinical Characteristics and Outcomes of Cardiomyopathy in
Barth
Syndrome
: The UK Experience
作者:
Sok-Leng Kang
;
Jonathan Forsey
;
Declan Dudley
;
Colin G. Steward…
关键词:
Barth
syndrome
;
Cardiomyopathies
;
Heart failure
;
Echocardiography
;
Prognosis
刊名:Pediatric Cardiology
出版年:2016
5.
CHAOS bei der Neugeborenenversorgung?
作者:
Dr. med. G. Jansen
;
B. Schmidt
;
F. Mertzlufft
;
T. Boesing
;
M.
Barth
el
关键词:
SchlüsselwörterTrachealagenesie
;
Unmögliche Intubation
;
Congenital high airway obstruction
syndrome
刊名:Der Anaesthesist
出版年:2016
6.
Mis-sesnse mutations in Tafazzin (TAZ) that escort to mild clinical symptoms of
Barth
syndrome
is owed to the minimal inhibitory effect of the mutations on the enzyme function: In-silico evidence
作者:
Surajit Debnath (1)
Soma Addya (2)
1. Department of Medical Laboratory Technology
;
Women鈥檚 Polytechnic
;
Govt. of Tripura Hapania
;
P.O
;
Amtali
;
Tripura (W)
;
PIN
;
799130
;
India
2. Paschim Medinipur
;
West Bengal
;
India
关键词:
Inborn error of metabolism
;
Mis
;
sense mutations
;
Tafazzin
;
Barth
syndrome
;
3 Methyl Glutaconyl Aciduria
;
Homology modeling
;
Comparative molecular docking simulations
刊名:Interdisciplinary Sciences: Computational Life Sciences
出版年:2015
7.
Barth
syndrome
without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype
作者:
Ann Bowron (1) (2) (3)
Julie Honeychurch (4)
Maggie Williams (4)
Beverley Tsai-Goodman (2) (5)
Nicol Clayton (2)
Lucy Jones (2)
Graham J. Shortland (6)
Shakeel A. Qureshi (7)
Simon J. R. Heales (8) (9)
Colin G. Steward (2) (3)
1. Department of Clinical Biochemistry
;
University Hospitals Bristol NHS Trust
;
Bristol
;
BS2 8HW
;
UK
2. NHS
Barth
Syndrome
Service
;
Bristol Royal Hospital for Children
;
University Hospitals Bristol NHS Trust
;
Bristol
;
BS2 8BJ
;
UK
3. School of Cellular & Molecular Medicine
;
School of Medical Sciences
;
University Walk
;
Bristol
;
BS8 1TD
;
UK
4. Bristol Genetics Laboratory
;
North Bristol NHS Trust
;
Bristol
;
BS10 5NB
;
UK
5. Department of Paediatric Cardiology
;
Bristol Royal Hospital for Children
;
University Hospitals Bristol NHS Trust
;
Bristol
;
BS2 8BJ
;
UK
6. Department of Metabolic Disease
;
University Hospitals Wales
;
Cardiff
;
CF14 4XW
;
UK
7. Department of Paediatric Cardiology
;
Evelina Children鈥檚 Hospital
;
Guy鈥檚 and St Thomas鈥?NHS Foundation Trust
;
London
;
SE1 7EH
;
UK
8. Department of Chemical Pathology
;
Great Ormond Street Hospital NHS Foundation Trust
;
London
;
WC1N 3JH
;
UK
9. University College London Institute of Child Health
;
London
;
WC1N 1EH
;
UK
刊名:Journal of Inherited Metabolic Disease
出版年:2015
8.
Erratum to:
Barth
syndrome
without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype
作者:
Ann Bowron
;
Julie Honeychurch
;
Maggie Williams…
刊名:Journal of Inherited Metabolic Disease
出版年:2016
9.
A Comparative Study Between Two Sensory Stimulation Strategies After Two Weeks Treatment on Older Patients with Oropharyngeal Dysphagia
作者:
Omar Ortega
;
Laia Rofes
;
Alberto Martin
;
Viridiana Arreola
;
Irene López…
关键词:
Deglutition
;
Deglutition disorders
;
Swallowing disorders
;
Therapeutics
;
Electric stimulation therapy
;
TRPV1 agonist
;
Older patients
刊名:Dysphagia
出版年:2016
10.
Endurance training ameliorates complex 3 deficiency in a mouse model of
Barth
syndrome
作者:
Meghan S. Soustek
;
Celine Baligand
;
Darin J. Falk…
刊名:Journal of Inherited Metabolic Disease
出版年:2015
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