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内部出版物
CNKI学位论文(5)
知网期刊论文(1)
在“
Elsevier电子期刊
”中,
命中:
19
条,耗时:小于0.01 秒
在所有数据库中总计命中:
6
条
1.
Leukocyte cystine as a biomarker to monitor cystinosis
作者:
Bruce
A.
Barshop
;
Ilya Gertsman
;
Jon A. Gangoiti
刊名:Molecular Genetics and Metabolism
出版年:2016
2.
Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring
作者:
Sylvia Stockler-Ipsiroglu
;
Clara van Karnebeek
;
Nicola Longo
;
G. Christoph Korenke
;
Saadet Mercimek-Mahmutoglu
;
Iris Marquart
;
Bruce
Barshop
;
Christiane Grolik
;
Andrea Schlune
;
Brad Angle
;
Helena Caldeira Ara煤jo
;
Turgay Coskun
;
Luisa Diogo
;
Michael Geraghty
;
Goknur Haliloglu
;
Vassiliki Konstantopoulou
;
Vincenzo Leuzzi
;
Alina Levtova
;
Jennifer MacKenzie
;
Bruno Mar
a ;
Aizeddin A. Mhanni
;
et al.
关键词:
Creatine deficiency
;
Magnetic resonance spectroscopy
;
Speech delay
;
Autism
;
Treatment evidence
;
Neurodevelopmental outcome
刊名:Molecular Genetics and Metabolism
出版年:January, 2014
3.
Preliminary clinical efficacy and safety of BMN 701, GILT-tagged recombinant human acid alpha glucosidase (rhGAA), in late-onset Pompe disease: results of an extension study
作者:
Barry Byrne
;
Richard Barohn
;
Bruce
Barshop
;
Drago Bratkovic
;
Claude Desnuelle
;
Robert Henderson
;
Tarekegn Hiwot
;
Derralynn Hughes
;
Pascal Laforet
;
Eugen Mengel
;
Mark Roberts
;
William Lang
;
Jonathon LeBowitz
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
4.
Twice-Daily Cysteamine Bitartrate Therapy for Children with Cystinosis
作者:
Ranjan Dohil
;
Meredith Fidler
;
Jon A. Gangoiti
;
Frederick Kaskel
;
Jerry A. Schneider
;
Bruce
A.
Barshop
刊名:The Journal of Pediatrics
出版年:2010
5.
Long-Term Treatment of Cystinosis in Children with Twice-Daily Cysteamine
作者:
Ranjan Dohil
;
Jon A. Gangoiti
;
Betty L. Cabrera
;
Meredith Fidler
;
Jerry A. Schneider
;
Bruce
A.
Barshop
刊名:The Journal of Pediatrics
出版年:2010
6.
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency
作者:
Georgianne L. Arnold
;
Dwight D. Koeberl
;
Dietrich Matern
;
Bruce
Barshop
;
Nancy Braverman
;
Barbara Burton
;
Stephen Cederbaum
;
Annette Fiegenbaum
;
Cheryl Garganta
;
James Gibson
;
Stephen I. Goodman
;
Cary
关键词:
3-Methyl-crotonyl CoA carboxylase deficiency
;
Delphi
;
Clinical practice guideline
;
Diagnosis
;
Management
;
Consensus
;
Carnitine
;
Leucine
;
Biotin
;
Glycine
刊名:Molecular Genetics and Metabolism
出版年:2008
7.
Management of a patient with holocarboxylase synthetase deficiency
作者:
Johan L.K. Van Hove
;
Sagi Josefsberg
;
Cynthia Freehauf
;
Janet A. Thomas
;
Le Phuc Thuy
;
Bruce
A.
Barshop
;
Michael Woontner
;
Donald M. Mock
;
Pei-Wen Chiang
;
Elaine Spector
;
Ivá
;
n Meneses-Morales
;
Ra
关键词:
Holocarboxylase synthetase
;
Carboxylase
;
Kinetics
;
Biotin
刊名:Molecular Genetics and Metabolism
出版年:2008
8.
58. Comparison of a Liquid and a Chewable Wafer CoQ10 Formulation; Plasma Pharmacokinetics, Effects of Fed and Fasted Administration, and Platelet Levels
作者:
Richard H. Haas
;
Edmund V. Capparelli
;
Jon A. Gangoiti
;
Thuy P. Le
;
Jan L. Panyard-Davis
;
Bruce
A.
Barshop
刊名:Mitochondrion
出版年:2009
9.
Analysis of coenzyme Q in human blood and tissues
作者:
Bruce
A.
Barshop
;
Jon A. Gangoiti
关键词:
Coenzyme Q
10
;
Electrochemical detection
;
Tandem mass spectrometry
;
Chromatography
刊名:Mitochondrion
出版年:2007
10.
Attitudes regarding vaccination among practitioners of clinical biochemical genetics
作者:
Bruce
A.
Barshop
;
Marshall L. Summar
刊名:Molecular Genetics and Metabolism
出版年:2008
1
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