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Elsevier电子期刊(8)

在“Elsevier电子期刊”中，命中：8条，耗时：0.0110023 秒

在所有数据库中总计命中：12条

1.The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors

作者：Lori-Anne P. Schillaci^a ; ¹ ; Carol L. Greene^b ; Erin Strovel^b ; Jessica Rispoli-Joines^b ; Elaine Spector^c ; Michael Woontner^c ; Gunter Scharer^c ; Gregory M. Enns^d ; Renata Gallagher^e ; Arthur B. Zinn^a ; ^g ; Shawn E. McCandless^a ; ^f ; ^g ; Charles L. Hoppel^h ; ⁱ ; Stephen I. Goodman^c ; Jirair K. Bedoyan^a ; ^f ; ^g ; ¹ ; ^{jirair.bedoyan@uhhospitals.org" class="auth_mail" title="E-mail the corresponding author}

关键词：GCDH ; Glutaryl-CoA dehydrogenase ; Glutaric aciduria ; Low excretor ; Newborn screen ; Urinary acylcarnitines

刊名：Molecular Genetics and Metabolism

出版年：2016

2.Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials

作者：Sandesh C.S. Nagamani^a ; ^{Nagamani@bcm.edu" class="auth_mail" title="E-mail the corresponding author} ; George A. Diaz^b ; William Rhead^c ; Susan A. Berry^d ; Cynthia Le Mons^e ; Uta Lichter-Konecki^f ; James Bartley^g ; Annette Feigenbaum^h ; Andreas Schulzeⁱ ; Nicola Longo^j ; William Berquist^k ; Renata Gallagher^l ; Dennis Bartholomew^m ; Cary O. Hardingⁿ ; Mark S. Korson^o ; Shawn E. McCandless^p ; Wendy Smith^q ; Jerry Vockley^r ; David Kronn^s ; Robert Zori^t ; Stephen Cederbaum^u ; J. Lawrence Merritt II^v ; Derek Wong^u ; Dion F. Coakley^w ; Bruce F. Scharschmidt^w ; Klara Dickinson^x ; Miguel Marinoⁿ ; Brendan H. Lee^a ; Masoud Mokhtarani^w

关键词：GPB ; glycerol phenylbutyrate ; NaPBA ; sodium phenylbutyrate ; HRQoL ; health-related quality of life ; UCD ; urea cycle disorder

刊名：Molecular Genetics and Metabolism

出版年：2015

3.Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes

作者：Susan A. Berry^a ; ^{berry002@umn.edu" class="auth_mail} ; Uta Lichter-Konecki^b ; George A. Diaz^c ; Shawn E. McCandless^d ; William Rhead^e ; Wendy Smith^f ; Cynthia LeMons^g ; Sandesh C.S. Nagamani^h ; Dion F. Coakleyⁱ ; Masoud Mokhtaraniⁱ ; Bruce F. Scharschmidtⁱ ; Brendan Lee^h

关键词：ASL ; argininosuccinate lyase ; ASS ; argininosuccinate synthase ; AUC0&ndash ; 24 ; 24 ; hour area under the curve ; GPB ; glycerol phenylbutyrate (generic name for glyceryl tri (4-phenylbutyrate) ; also referred to as HPN-100 or RAVICTI®) ; NaPBA ; sodium phenylbutyrate ; OTC ; ornithine transcarbamylase ; PAA ; phenylacetic acid ; PAGN ; phenylacetylglutamine ; PBA ; phenylbutyric acid ; PK ; pharmacokinetic ; UCD ; urea cycle disorder

刊名：Molecular Genetics and Metabolism

出版年：May 2014

4.Sequencing from dried blood spots in infants with ¡°false positive¡± newborn screen for MCAD deficiency

作者：Shawn E. McCandless^a ; ^b ; ^{shawn.mccandless@case.edu} ; Ram Chandrasekar^c ; ^{ram.chandrasekar@odh.ohio.gov} ; Sharon Linard^c ; ^{sharon.linard@odh.ohio.gov} ; Sandra Kikano^a ; ^{sandra.kikano@case.edu} ; Lorrie Rice^a ; ^{lorrie.rice@case.edu}

关键词：Medium-chain acyl-CoA dehydrogenase deficiency ; Fatty acid oxidation disorders ; Newborn screening ; Dried blood spots

刊名：Molecular Genetics and Metabolism

出版年：2013

5.Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate

作者：Wendy Smith ; MD¹ ; ^{SMITHW@mmc.org} ; George A. Diaz ; MD ; PhD² ; Uta Lichter-Konecki ; MD ; PhD³ ; Susan A. Berry ; MD⁴ ; Cary O. Harding ; MD⁵ ; Shawn E. McCandless ; MD⁶ ; Cindy LeMons⁷ ; Joe Mauney ; MS⁸ ; Klara Dickinson ; BS⁹ ; Dion F. Coakley ; PharmD⁹ ; Tristen Moors ; MS⁹ ; Masoud Mokhtarani ; MD⁹ ; Bruce F. Scharschmidt ; MD⁹ ; Brendan Lee ; MD ; PhD¹⁰ ; ¹¹

关键词：ASA ; Argininosuccinic acid ; ASL ; Argininosuccinate lyase ; ASS ; Argininosuccinate synthetase ; AUC0-24 ; 24-hour area under the curve ; DSMB ; Data and safety monitoring board ; G tube ; Gastrostomy tube ; GPB ; Glycerol phenylbutyrate ; NaPBA ; Sodium phenylbutyrat

刊名：The Journal of Pediatrics

出版年：2013

6.Design and implementation of the first randomized controlled trial of coenzyme Q₁₀ in children with primary mitochondrial diseases

作者：Peter W. Stacpoole^a ; ^pws@ufl.edu ; Ton.J. deGrauw^b ; ¹ ; Annette S. Feigenbaum^c ; ² ; Charles Hoppel^d ; Douglas S. Kerr^d ; Shawn E. McCandless^d ; Michael V. Miles^b ; Brian H. Robinson^c ; Peter H. Tang^b

关键词：AE ; adverse event ; ATP6 ; adenosine triphosphate synthase subunit 6 ; CIDEM ; Center for Inherited Disorders of Energy Metabolism ; CoQ10 ; coenzyme Q10 ; CPEO ; chronic progressive external ophthalmoplegia ; DCC ; data coordinating center ; DSMB ; data safety monit

刊名：Mitochondrion

出版年：2012

7.A primer on expanded newborn screening by tandem mass spectrometry

作者：Shawn E. McCandless ; MD ^{shawn.mccandless@case.edu}

刊名：Primary Care: Clinics in Office Practice

出版年：2004

8.Betaine-Homocysteine Methyltransferase-2: cDNA Cloning, Gene Sequence, Physical Mapping, and Expression of the Human and Mouse Genes

作者：Chadwick ; Lisa H. ; McCandless ; Shawn E. ; Silverman ; Gregory L. ; Schwartz ; Stuart ; Westaway ; David ; et. al.

刊名：Genomics

出版年：2000

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作者(8)

按出版年细分(8)

2027年及以后(1)

2016年(1)

2015年(1)

2013年(2)

2012年(1)

2004年(1)

2000年(1)

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