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在“Elsevier电子期刊”中，命中：367条，耗时：0.0589434 秒

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1.Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience

作者：Akella Radha Rama Devi^a ; ^b ; ^{radharamadevi@gmail.com} ; Shaik Mohammad Naushad^b

关键词：Methylmalonic aciduria ; Homocystinuria ; Early onset ; Gene mutations ; Outcome

刊名：Clinical Biochemistry

出版年：2017

2.Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria

作者：Yupeng Liu ; Xiyuan Li ; Qiao Wang ; Yuan Ding ; Jinqing Song ; Yanling Yang ; ^{organic.acid@126.com" class="auth_mail" title="E-mail the corresponding author} ; ^{yanlingy@vip.sina.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Methylmalonic aciduria ; Succinate-CoA ligase deficiency ; Encephalomyopathy ; Mitochondrial DNA depletion ; SUCLG1

刊名：Brain and Development

出版年：2016

3.Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria

作者：Alberto Burlina ; ^{alberto.burlina@unipd.it" class="auth_mail" title="E-mail the corresponding author} ; Chiara Cazzorla ; Elisa Zanonato ; Emanuela Viggiano ; Ilaria Fasan ; Giulia Polo

关键词：Metabolic decompensation ; Methylmalonic aciduria ; N-carbamylglutamate ; Organic acidurias ; Propionic aciduria

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

4.Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B₁₂ metabolism

作者：Mihaela Pupavac^a ; Xia Tian^b ; Jordan Chu^a ; Guoli Wang^b ; Yanming Feng^b ; Stella Chen^b ; Remington Fenter^b ; Victor W. Zhang^b ; ^c ; Jing Wang^b ; ^c ; David Watkins^a ; Lee-Jun Wong^b ; ^c ; David S. Rosenblatt^a ; ^{david.rosenblatt@mcgill.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：Next generation sequencing gene panel ; Methylmalonic acid ; Cobalamin metabolism ; Vitamin B12 ; Diagnostic test ; Functional studies

刊名：Molecular Genetics and Metabolism

出版年：2016

5.Ultrasound-assisted emulsification microextraction followed by gas chromatography-flame ionization detection for urinary methylmalonic acid determination

作者：Mohammad Aghamohammadi ; ^{Aghamo_m@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Parvin Shahdousti ; Behrang Harooni

关键词：Methylmalonic acid ; Ultrasound-assisted emulsification microextraction ; Gas chromatography&ndash ; flame ionization detection ; Urine analysis

刊名：Microchemical Journal

出版年：2016

6.Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria

作者：Hong-Phuc Cudré ; -Cung^a ; Petra Zavadakova^a ; Só ; nia do Vale-Pereira^a ; Noé ; mie Remacle^a ; Hugues Henry^b ; Julijana Ivanisevic^c ; Denise Tavel^d ; Olivier Braissant^e ; Diana Ballhausen^a ; ^{diana.ballhausen@chuv.ch" class="auth_mail" title="E-mail the corresponding author}

关键词：2-MCA ; 2-methylcitrate ; CNS ; central nervous system ; DIV ; day in vitro ; DMSO ; dimethyl sulfoxyde ; GalC ; galactocerebroside ; GDH ; glutamate dehydrogenase ; GFAP ; glial fibrillary acidic protein ; GS ; glutamine synthetase ; HRP ; horseradish peroxidase ; LC3 ; microtubule-associated protein 1A/1B-light chain 3 ; MBP ; myelin basic protein ; MMA ; methylmalonic acid ; MMAuria ; methylmalonic aciduria ; MRPL12 ; mitochondrial ribosomal protein L12 ; NH4+ ; ; ammonium ; PBS ; phosphate-buffered saline ; p-NFM ; medi

刊名：Molecular Genetics and Metabolism

出版年：2016

7.Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China

作者：Bingjuan Han^a ; ^b ; ¹ ; Zhiyang Cao^c ; ¹ ; Liping Tian^b ; Hui Zou^b ; Lian Yang^c ; Weiwei Zhu^a ; ^{weweikeyan@163.com" class="auth_mail" title="E-mail the corresponding author} ; Yingxia Liu^a ; ^b ; ^d ; ^{liuyingxia@njmu.edu.cn" class="auth_mail" title="E-mail the corresponding author}

关键词：MMA ; methylmalonic acidemia ; MCM ; methymalonyl-CoA mutase ; AdoCbl ; adenosylcobalamin ; MeCbl ; methylcobalamin ; C3 ; propionylcarnitine ; C2 ; acetylcarnitine ; tHcy ; total plasma homocysteine ; OHCbl ; hydroxocobalamin ; DQ ; developmental quotient

刊名：Brain and Development

出版年：2016

8.Reference interval of methylmalonic acid concentrations in dried blood spots of healthy, term newborns to facilitate neonatal screening of vitamin B12 deficiency

作者：Theresa H. Schroder^a ; ^b ; ^{schrod10@mail.ubc.ca" class="auth_mail" title="E-mail the corresponding author} ; Andre Mattman^b ; ^c ; ^{amattman@providencehealth.bc.ca" class="auth_mail" title="E-mail the corresponding author} ; Graham Sinclair^b ; ^d ; ^{gsinclair@cw.bc.ca" class="auth_mail" title="E-mail the corresponding author} ; Hilary D. Vallance^b ; ^d ; ^{hvallance@cw.bc.ca" class="auth_mail" title="E-mail the corresponding author} ; Yvonne Lamers^a ; ^b ; ^{yvonne.lamers@ubc.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：B-12 ; vitamin B12 ; MMA ; methylmalonic acid ; DBS ; dried blood spot ; LC&ndash ; MS/MS ; liquid chromatography&ndash ; tandem mass spectrometry ; 95% CI ; 95% confidence interval

刊名：Clinical Biochemistry

出版年：2016

9.Excessive folic acid intake and relation to adverse health outcome

作者：Jacob Selhub ; ^{jacob.selhub@tufts.edu" class="auth_mail" title="E-mail the corresponding author} ; Irwin H. Rosenberg ; ^{irwin.rosenberg@tufts.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Folic acid ; Folate ; Vitamin B12 ; Homocysteine ; Methylmalonic acid

刊名：Biochimie

出版年：2016

10.Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations

作者：Jordan Chu^a ; Mihaela Pupavac^a ; David Watkins^a ; Xia Tian^b ; Yanming Feng^b ; Stella Chen^b ; Remington Fenter^b ; Victor W. Zhang^b ; Jing Wang^b ; Lee-Jun Wong^b ; David S. Rosenblatt^a ; ^{david.rosenblatt@mgcill.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：Next generation sequencing ; mut ; Methylmalonic aciduria ; Methylmalonyl-CoA mutase ; Vitamin B12

刊名：Molecular Genetics and Metabolism

出版年：2016

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