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Elsevier电子期刊(89)

在“Elsevier电子期刊”中，命中：89条，耗时：0.0300182 秒

在所有数据库中总计命中：89条

1.A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening

作者：Graham B. Sinclair^a ; ^c ; ^d ; ^e ; ^{gsinclair@cw.bc.ca" class="auth_mail" title="E-mail the corresponding author} ; Clara D.M. van Karnebeek^b ; ^c ; ^d ; ^e ; ^f ; Manuel Ester^a ; ^d ; Frances Boyd^a ; ^d ; Tanya Nelson^a ; ^d ; ^e ; Sylvia Stockler-Ipsiroglu^b ; ^c ; ^d ; ^e ; Hilary Vallance^a ; ^c ; ^d ; ^e

关键词：GAMT ; guanidinoacetate methyltransferase ; BC ; British Columbia ; GAA ; guanidinoacetate ; LC-MS/MS ; liquid chromatography tandem mass spectrometry ; MSUD ; maple syrup urine disease ; AGAT ; arginine ; glycine amidinotransferase ; ddH20 ; distilled deionized water ; ACN ; acetonitrile ; ACMG ; American college of medical genetics ; Human gene ; GAMT (HGNC ; 416) ; guanidinoacetate N-methyltransferase ; Human gene ; SLC6A8 (HGNC ; 11055) ; solute carrier family 6 (neurotransmitter transporter) ; member 8

刊名：Molecular Genetics and Metabolism

出版年：2016

2.A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene

作者：S. Mercimek-Mahmutoglu^a ; ^b ; ^{saadet.mahmutoglu@sickkids.ca" class="auth_mail" title="E-mail the corresponding author} ; A. Pop^c ; W. Kanhai^c ; M. Fernandez Ojeda^c ; U. Holwerda^c ; D. Smith^c ; J.G. Loeber^d ; P.C.J.I. Schielen^d ; G.S. Salomons^c ; ^{g.salomons@vumc.nl" class="auth_mail" title="E-mail the corresponding author}

关键词：GAMT ; guanidinoacetate methyltransferase ; GAA ; guanidinoacetate ; EGFP ; enhanced green fluorescent protein ; GABA ; gamma amino butyric acid ; 1H-MRS ; proton magnetic resonance spectroscopy ; CSF ; cerebral spinal fluid ; GDD ; global developmental delay ; CNS ; central nervous system ; LC&ndash ; MS/MS ; liquid chromatography&ndash ; tandem mass spectrometry ; ORF ; open reading frame ; PEI ; polyethyleneimine ; GC&ndash ; MS ; gas chromatography&ndash ; mass spectrometry ; UPLC ; ultra high performance liquid chromatogra

刊名：Gene

出版年：2016

3.Restricted ADP movement in cardiomyocytes: Cytosolic diffusion obstacles are complemented with a small number of open mitochondrial voltage-dependent anion channels

作者：Pä ; ivo Simson¹ ; Natalja Jepihhina¹ ; Martin Laasmaa ; Pearu Peterson ; Rikke Birkedal ; Marko Vendelin ; ^{markov@ioc.ee" class="auth_mail" title="E-mail the corresponding author}

关键词：CK ; creatine kinase ; DC ; diffusion coefficient ; GAMT ; GuanidinoAcetate MethylTransferase ; MOM ; mitochondrial outer membrane ; VDAC ; voltage-dependent anion channel

刊名：Journal of Molecular and Cellular Cardiology

出版年：2016

4.Creatine transporter deficiency: Novel mutations and functional studies

作者：O. Ardon^a ; ^b ; ^c ; M. Procter^a ; R. Mao^a ; ^b ; ^c ; N. Longo^a ; ^b ; ^c ; ^{Nicola.Longo@hsc.utah.edu" class="auth_mail" title="E-mail the corresponding author} ; Y.E. Landau^d ; A. Shilon-Hadass^d ; L.V. Gabis^d ; C. Hoffmann^d ; M. Tzadok^d ; G. Heimer^d ; ^e ; S. Sada^c ; ^d ; B. Ben-Zeev^d ; Y. Anikster^d

关键词：SLC6A8 ; Creatine transport ; Human fibroblasts ; HELA cells ; Creatine transporter deficiency ; Creatine deficiency

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

5.Hypertensive patients exhibit an altered metabolism. A specific metabolite signature in urine is able to predict albuminuria progression

作者：Laura Gonzalez-Calero^a ; Marta Martin-Lorenzo^a ; Paula J. Martí ; nez^a ; Montserrat Baldan-Martin^b ; Gema Ruiz-Hurtado^c ; ^d ; Julian Segura^c ; Fernando de la Cuesta^b ; Maria G. Barderas^b ; Luis M. Ruilope^c ; ^{ruilope@ad-hocbox.com" class="auth_mail" title="E-mail the corresponding author} ; Fernando Vivanco^a ; ^e ; Gloria Alvarez-Llamas^a ; ^{galvarez@fjd.es" class="auth_mail" title="E-mail the corresponding author}

关键词：ACEi ; angiotensin converting enzyme inhibitors ; ACR ; albumin to creatinine ratio ; ARB ; angiotensin receptor blockers ; AUC ; area under the curve ; BMI ; body mass index ; BP ; blood pressure ; dnA ; de novo albuminuria ; eGFR ; estimated glomerular filtration rate ; HDL ; high-density lipoprotein cholesterol ; HMDB ; human metabolome database ; HTN ; hypertension ; LC-MS/MS ; liquid chromatography-mass spectrometry in tandem ; LDL ; low-density lipoprotein cholesterol ; MHA ; maintained albuminuria ; N ; normoalbuminu

刊名：Translational Research

出版年：2016

6.Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

作者：Sylvia Stockler-Ipsiroglu^a ; ^b ; ^{sstockler@cw.bc.ca" class="auth_mail" title="E-mail the corresponding author} ; Delia Apatean^a ; Roberta Battini^c ; Suzanne DeBrosse^d ; Kimberley Dessoffy^d ; Simon Edvardson^e ; Florian Eichler^f ; Katherine Johnston^g ; David M. Koeller^h ; Sonia Nouiouaⁱ ; Meriem Tazirⁱ ; Ashok Verma^j ; Monica D. Dowling^k ; Klaas J. Wierenga^l ; Andrea M. Wierenga^l ; Victor Zhang^m ; Lee-Jun C. Wong^m

关键词：AGAT ; arginine ; glycine amidinotransferase ; CDD ; creatine deficiency disorders ; CPK ; creatine phosphokinase ; CRTR ; creatine transporter ; CSF ; cerebrospinal fluid ; EEG ; electroencephalogram ; GAA ; guanidinoacetate ; GAMT ; guanidinoacetate methyltransferase ; GATM ; glycine amidinotransferase ; mitochondrial (gene symbol for AGAT) ; MRS ; proton magnetic resonance spectroscopy ; IDD ; intellectual disability/developmental delay ; IEM ; inborn errors of metabolism ; MRI ; magnetic resonance imaging ; P ; plasma ; U

刊名：Molecular Genetics and Metabolism

出版年：2015

7.Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency

作者：Areeg H. El-Gharbawy^a ; Jennifer L. Goldstein^a ; David S. Millington^a ; Amie E. Vaisnins^b ; Andrea Schlune^c ; Bruce A. Barshop^d ; Andreas Schulze^e ; Dwight D. Koeberl^a ; Sarah P. Young^a ; ^{young116@mc.duke.edu}

关键词：DBS ; dried blood spots ; GAc ; guanidinoacetate ; GAMT ; guanidinoacetate methyltransferase ; NBS ; newborn screening

刊名：Molecular Genetics and Metabolism

出版年：2013

8.Evidence-Based Treatment of Guanidinoacetate Methyltransferase (GAMT) Deficiency

作者：Krista S. Viau ; Sharon L. Ernst ; Marzia Pasquali ; Lorenzo D. Botto ; Gary Hedlund ; Nicola Longo

关键词：Creatine ; Intellectual disability ; Magnetic resonance spectroscopy ; Guanidinoacetate ; GAMT deficiency

刊名：Molecular Genetics and Metabolism

出版年：2013

9.Creatine and guanidinoacetate reference values in a French population

作者：Marie Joncquel-Chevalier Curt ; David Cheillan ; Gilbert Bri ; Gajja S. Salomons ; Karine Mention-Mulliez ; Dries Dobbelaere ; Jean-Marie Cuisset ; Laurence Lion-Fran?ois ; Vincent Des Portes ; Allel Chabli ; Vassili Valayannopoulos ; Jean-Fran?ois Benoist ; Jean-Marc Pinard ; Gilles Simard ; Olivier Douay ; Kumaran Deiva ; Marc Tardieu ; Alex ; ra Afenjar ; Delphine H¨¦ron ; Fran?ois Rivier ; et al.

关键词：Creatine ; Guanidinoacetate ; Creatinine ; Laboratory values ; Urine ; Plasma

刊名：Molecular Genetics and Metabolism

出版年：2013

10.Case Study for the Evaluation of Current Treatment Recommendations of Guanidinoacetate Methyltransferase Deficiency: Ineffectiveness of Sodium Benzoate

作者：Saadet Mercimek-Mahmutoglu ; MD ; PhD^a ; ^b ; ^{saadet.mahmutoglu@sickkids.ca" class="auth_mail} ; Gajja S. Salomons ; PhD^c ; Alicia Chan ; MD^d

关键词：GAMT deficiency ; seizure ; creatine therapy ; global developmental delay ; arginine-restricted diet ; sodium benzoate

刊名：Pediatric Neurology

出版年：July 2014

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