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SpringerLink电子期刊(18)
Elsevier电子期刊(3)
在“
SpringerLink电子期刊
”中，
命中：
18
条，耗时：0.0449817 秒
在所有数据库中总计命中：
21
条
1.
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
2.
Glucose tolerance is associated with differential expression
of
microRNAs in skeletal muscle: results from studies
of
twins with and without type 2 diabetes
作者：
Jette Bork-Jensen (1) (2)
Camilla Scheele (3)
Daniel V. Christophersen (1) (4)
Emma Nilsson (1)
Martin Friedrichsen (1) (2) (5)
Denise S. Fernandez-Twinn (
6
)
Louise G. Grunnet (2)
Thomas Litman (7)
Kim Holmstr酶m (8)
Birgitte Vind (9)
Kurt H酶jlund (9)
Henning Beck-Nielsen (9)
J酶rgen Wojtaszewski (5)
Susan E. Ozanne (
6
)
Bente K. Pedersen (3)
Pernille Poulsen (1) (4)
Allan Vaag (1) (2)
1. Steno Diabetes Center
;
Gent
of
te
;
Denmark
2.
Department
of
Endocrinology (Diabetes and Metabolism)
;
Rigshospitalet
;
sec. 7
6
52
;
Tagensvej 20
;
DK-2200
;
Copenhagen N
;
Denmark
3. Centre
of
Inflammation and Metabolism
;
Faculty
of
Health Sciences
;
University
of
Copenhagen
;
Copenhagen
;
Denmark
4. Novo Nordisk
;
Bagsv忙rd
;
Denmark
5.
Department
of
Exercise and Sport Sciences
;
University
of
Copenhagen
;
Copenhagen
;
Denmark
6
. University
of
Cambridge
Metabolic
Research Laboratories and MRC Metabolic
Disease
s Unit
;
Wellcome Trust-Institute
of
Metabolic
Science
;
Addenbrooke鈥檚 Treatment Centre
;
Addenbrooke鈥檚 Hospital
;
Cambridge
;
UK
7. Molecular Biomedicine
;
LEO Pharma
;
Ballerup
;
Denmark
8. Bioneer
;
H酶rsholm
;
Denmark
9. Odense University Hospital
;
Odense
;
Denmark
关键词：
Insulin signalling
;
Low birthweight
;
MicroRNA
;
miR
;
15b
;
miR
;
1
6
;
Muscle
;
Twins
;
Type 2 diabetes
刊名：Diabetologia
出版年：2015
3.
Standardized Outcomes Reporting in
Metabolic
and Bariatric Surgery
作者：
Stacy A. Brethauer (1)
Julie Kim (2)
Maher el Chaar (3)
Pavlos Papasavas (4)
Dan Eisenberg (5)
Ann Rogers (
6
)
Naveen Ballem (7)
Mark Kligman (8)
Shanu Kothari (9)
for the ASMBS Clinical Issues Committee
1. Bariatric and
Metabolic
Center
;
Digestive
Disease
Institute
;
Cleveland Clinic
;
9500 Euclid Ave.
;
M
6
1
;
Cleveland
;
OH
;
44195
;
USA
2.
Department
of
Surgery
;
School
of
Medicine
;
Tufts University
;
Boston
;
MA
;
USA
3.
Department
of
Surgery
;
St. L
uk
e鈥檚 Hospital
;
Allentown
;
PA
;
USA
4.
Department
of
Surgery
;
Hartford Hospital
;
Hartford
;
CT
;
USA
5.
Department
of
Surgery
;
Stanford University and Palo Alto VA Health Care Center
;
Palo Alto
;
CA
;
USA
6
.
Department
of
Surgery
;
Penn State University
;
Hershey
;
PA
;
USA
7. Center for Advanced Surgical Weight Loss
;
Montclair
;
NJ
;
USA
8.
Department
of
Surgery
;
University
of
Maryland Medical Center
;
Baltimore
;
MD
;
USA
9.
Department
of
Surgery
;
Gundersen Health System
;
La Crosse
;
WI
;
USA
关键词：
Metabolic
;
Bariatric
;
Standardized outcomes reporting
刊名：Obesity Surgery
出版年：2015
4.
Epigenetic regulation
of
histone modifications and Gata
6
gene expression induced by maternal diet in mouse embryoid bodies in a model
of
developmental programming
作者：
Congshan Sun (1)
Oleg Denisenko (2)
Bhavwanti Sheth (1)
Andy Cox (1)
Emma S Lucas (1)
Neil R Smyth (1)
Tom P Fleming (1)
1. Centre for Biological Sciences
;
University
of
Southampton
;
Mailpoint 840
;
Level D Lab & Path Block
;
Southampton General Hospital
;
Tremona Road
;
Southampton
;
SO1
6
6
YD
;
UK
2.
Department
of
Medicine
;
University
of
Washington
;
Seattle
;
WA
;
98109
;
USA
关键词：
Maternal low protein diet
;
Embryoid body
;
Mouse blastocyst
;
Histone epigenetics
;
Metabolic
disease
;
Gata
6
;
Primitive endoderm
;
Chromatin immunoprecipitation
刊名：BMC Developmental Biology
出版年：2015
5.
Understanding
disease
mechanisms with models
of
signaling pathway activities
作者：
Patricia Sebastian-Leon (1)
Enrique Vidal (1) (2) (3)
Pablo Minguez (1) (4)
Ana Conesa (1)
Sonia Tarazona (1)
Alicia Amadoz (1)
Carmen Armero (5)
Francisco Salavert (1) (2)
Antonio Vidal-Puig (
6
)
David Montaner (1)
Joaqu铆n Dopazo (1) (2) (7)
1.
Department
of
Computational Genomics
;
Centro de Investigaci贸n Pr铆ncipe Felipe (CIPF)
;
Avda. Autopista del Saler
;
1
6
;
4
6
012
;
Valencia
;
Spain
2. BIER
;
CIBER de Enfermedades Raras (CIBERER)
;
Valencia
;
4
6
012
;
Spain
3. Present Address
;
Cancer Epigenetics and Biology Program (PEBC)
;
Bellvitge Biomedical Research Institute (IDIBELL)
;
L鈥橦ospitalet de Llobregat
;
Barcelona
;
Spain
4. Present Address
;
Structural and Computational Biology
;
European Molecular Biology Laboratory
;
Heidelberg
;
6
9117
;
Germany
5.
Department
of
Statistics and Operations Research
;
University
of
Valencia
;
Valencia
;
4
6
100
;
Spain
6
. Institute
of
Metabolic
Science - Metabolic Research Laboratories and
Department
of
Clinical Biochemistry
;
University
of
Cambridge
;
Addenbrooke鈥檚 Hospital
;
Cambridge
;
CB2 0QQ
;
UK
7. Functional Genomics Node
;
(INB) at CIPF
;
Valencia
;
Spain
关键词：
Signaling pathways
;
Probabilistic model
;
Disease
mechanism
;
Precision medicine
;
Disease
mechanism
;
Cancer
;
Fanconi anemia
;
Obesity
;
Stem cells
刊名：BMC Systems Biology
出版年：2014
6.
A systematic review
of
the prevalence
of
Morquio A syndrome: challenges for study reporting in rare
disease
s
作者：
Regina M Leadley (1)
Shona Lang (1)
Kate Misso (1)
Trudy Bekkering (2)
Janine Ross (1)
Takey
uk
i Akiyama (3)
Michael Fietz (4)
Roberto Giugliani (5)
Chris J Hendriksz (
6
)
Ngu Lock Hock (7)
Jim McGill (8)
Andrew Olaye (9)
Mohit Jain (10)
Jos Kleijnen (1) (11)
1. Kleijnen Systematic Reviews
;
Unit
6
;
Escrick Business Park
;
Escrick
;
York
;
YO19
6
FD
;
UK
2. BeSyReBekkering Systematic Reviews
;
Geel
;
Belgium
3. Japan society
of
patients and families with Mucopolysaccharidoses
;
2-37-3
;
Minamisyojyaku
;
Suita-Shi
;
Osaka
;
5
6
4-0012
;
Japan
4.
Department
of
Biochemical Genetics
;
SA Pathology (at WCH)
;
72 King William Road
;
North Adelaide
;
SA
;
500
6
;
Australia
5. Chief
of
the Medical Genetics Service
;
Clinic Hospital
of
Porto
;
Porto Alegre
;
Rio Grande do Sul
;
Brazil
6
. Clinical lead- Adult Inherited
Metabolic
Disorders
;
Consultant Transitional
Metabolic
Medicine
;
Manchester Academic Health Science Centre
;
The Mark Holland
Metabolic
Unit
;
Salford Royal Foundation NHS Trust
;
Ladywell NW2- 2nd Floor Room 107
;
Salford
;
Manchester
;
M
6
8H
;
UK
7. Consultant Pediatrician and Clinical Geneticist
;
Clinical Genetics &
Metabolic
Department
;
Kuala Lumpur Hospital
;
Jalan Pahang
;
Kuala Lumpur
;
5058
6
;
Malaysia
8.
Metabolic
physician and Clinical geneticist
Department
of
Metabolic Medicine
;
Royal Children鈥檚 Hospital
;
Brisbane
;
Australia
9. Snr Market Access Manager EUMEA
;
BioMarin Europe Ltd
;
1
6
4 Shaftesbury Ave
;
London
;
WC2H 8HL
;
United Kingdom
10. Market Access & Public Policy EUMEA BioMarin Europe Ltd
;
1
6
4 Shaftesbury Ave
;
London
;
WC2H 8HL
;
United Kingdom
11. School for Public Health and Primary Care (CAPHRI)
;
Maastricht University
;
Maastricht
;
Netherlands
关键词：
Mucopolysaccharidoses type A
;
Morquio A
;
MPS IVA
;
Epidemiology
;
Prevalence
;
Incidence
刊名：Orphanet Journal
of
Rare
Disease
s
出版年：2014
7.
The role
of
gut microbiota in the development
of
type 1, type 2 diabetes mellitus and obesity
作者：
Ningwen Tai (1)
F. Susan Wong (2)
Li Wen (1)
1. Section
of
Endocrinology
;
Department
of
Internal Medicine
;
Yale School
of
Medicine
;
New Haven
;
USA
2. Institute
of
Molecular and Experimental Medicine
;
Cardiff University School
of
Medicine
;
Cardiff
;
UK
关键词：
Gut microbiota
;
Type 1 diabetes
;
Type 2 diabetes
;
Obesity
刊名：Reviews in Endocrine &
Metabolic
Disorders
出版年：2015
8.
Astrocyte glycogen as an emergency fuel under conditions
of
glucose deprivation or intense neural activity
作者：
Angus M. Brown (1) (2)
Bruce R. Ransom (1)
1. School
of
Life Sciences
;
Queens Medical Centre
;
University
of
Nottingham
;
Nottingham
;
NG7-2UH
;
UK
2.
Department
of
Neurology
;
University
of
Washington
;
Seattle
;
WA
;
98195
;
USA
关键词：
Glycogen
;
Astrocyte
;
Lactate
;
Hypoglycemia
刊名：
Metabolic
Brain
Disease
出版年：2015
9.
An integrated map
of
HIV genome-wide variation from a population perspective
作者：
Guangdi Li (1) (2)
Supinya Piampongsant (1) (2)
Nuno Rodrigues Faria (3)
Arnout Voet (4)
Andrea-Clemencia Pineda-Pe帽a (2) (5)
Ricardo Khouri (2) (
6
)
Philippe Lemey (2)
Anne-Mieke Vandamme (2) (7)
Krist
of
Theys (2)
1.
Metabolic
Syndrome Research Center
;
the Second Xiangya Hospital
;
Central South University
;
Changsha
;
Hunan
;
China
2. Rega Institute for Medical Research
;
Department
of
Microbiology and Immunology
;
KU Leuven
;
Leuven
;
Belgium
3.
Department
of
Zoology
;
University
of
Oxford
;
Oxford
;
OX1-3PS
;
UK
4. Zhang IRU
;
RIKEN Institute Laboratories
;
Hirosawa 2-1
;
Wako-shi
;
Saitama
;
Japan
5. Clinical and Molecular Infectious
Disease
Group
;
Faculty
of
Sciences and Mathematics
;
Universidad del Rosario
;
Bogot谩
;
Colombia
6
. LIMI-LIP
;
Centro de Pesquisa Gon莽alo Moniz
;
FIOCRUZ
;
Salvador-Bahia
;
Brasil
7. Centro de Mal谩ria e Outras Doen莽as Tropicais and Unidade de Microbiologia
;
Instituto de Higiene e Medicina Tropical
;
Universidade Nova de Lisboa
;
Lisbon
;
Portugal
关键词：
HIV genome
;
Genomic diversity
;
Conservation
;
Peptide inhibitor
;
HIV
;
human protein interaction
;
HIV phylogenetic tree
;
HIV inter
;
and inter
;
clade genetic diversity
;
Selective pressure
;
Protein multimerization
;
Protein intrinsic disorder
刊名：Retrovirology
出版年：2015
10.
Quality
of
Life (QoL) assessment in a cohort
of
patients with Phenylketonuria
作者：
Chiara Cazzorla (10)
Luca Cegolon (11) (12)
Alessandro P Burlina (13)
Andrea Celato (10)
Pamela Massa (10)
Laura Giordano (10)
Giulia Polo (10)
Aurora Daniele (14) (15)
Francesco Salvatore (15) (1
6
)
Alberto B Burlina (10)
10. Division
of
Inborn
Metabolic
Disease
s
;
Department
of
Pediatrics
;
Padua University Hospital
;
Padua
;
Italy
11.
Department
of
Cardiac
;
Thoracic and Vascular Sciences
;
Padua University Hospital
;
Padua
;
Italy
12.
Department
of
Infectious
Disease
Epidemiology
;
London School
of
Hygiene & Tropical Medicine
;
London
;
UK
13. Neurological Unit
;
St. Bassiano Hospital
;
Bassano del Grappa
;
Italy
14.
Department
of
Environmental Sciences
;
Biological and Pharmaceutical Technologies
;
Second University
of
Naples
;
Caserta
;
Italy
15. CEINGE-Biotecnologie Avanzate S.c.a.r.l.
;
Naples
;
Italy
1
6
. IRCCS SDN-Foundation
;
Naples
;
Italy
关键词：
Phenylketonuria
;
Tetrahydrobiopterin
;
Quality
of
life
;
Word Health Organization Quality
Of
Life questionnaire
;
100
刊名：BMC Public Health
出版年：2014
1
2
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作者(7)
文摘(3)
按出版年细分(18)
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