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SpringerLink电子期刊(1)
Elsevier电子期刊(12)
在“
Elsevier电子期刊
”中,
命中:
12
条,耗时:小于0.01 秒
在所有数据库中总计命中:
13
条
1.
Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System
作者:
RaeLynn Forsyth
a
;
Catherine Walsh Vockley
b
;
Mathew J. Edick
c
;
Cynthia A. Cameron
c
;
Sally J. Hiner
d
;
Susan A. Berry
e
;
Jerry Vockley
f
;
Georgianne
L.
Arnold
g
;
Gl
arnold
2757@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
For the Inborn Errors of Metabolism Collaborative
1
关键词:
3-MCC Deficiency
;
Newborn Screening
;
Outcomes
;
Database
;
Symptoms
刊名:Molecular Genetics and Metabolism
出版年:2016
2.
Development of clinical guidelines for inborn errors of metabolism: Commentary
作者:
Jerry Vockley
a
;
b
;
gerard.vockley@chp.edu
;
Kimberly A. Chapman
c
;
d
;
1
;
Kchapman@childrensnational.org
;
Georgianne
L.
Arnold
a
;
2
;
georgianne
.
arnold
@chp.edu
刊名:Molecular Genetics and Metabolism
出版年:2013
3.
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening
作者:
Georgianne
L.
Arnold
;
Denise Salazar
;
Julie A. Neidich
;
Pim Suwannarat
;
Brett H. Graham
;
Uta Lichter-Konecki
;
Annet M. Bosch
;
Kristina Cusmano-Ozog
;
Greg Enns
;
Erica L. Wright
;
Brendan C. Lanpher
;
Natalie N. Owen
;
Mark H. Lipson
;
Roberto Cerone
;
Paul Levy
;
Lee-Jun C. Wong
;
Antal Dezsofi
关键词:
3-MCC
;
3-methylcrotonyl CoA carboxylase
刊名:Molecular Genetics and Metabolism
出版年:2012
4.
Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State
作者:
Georgianne
L.
Arnold
;
Carlos A. Saavedra-Matiz
;
Patricia A. Galvin-Parton
;
Richard Erbe
;
Ellen DeVincentis
;
David Kronn
;
Shideh Mofidi
;
Melissa Wasserstein
;
Joan E. Pellegrino
;
Paul A. Levy
;
Darius J.
关键词:
Fatty acid oxidation defect
;
Medium chain acyl-CoA dehydrogenase deficiency
;
Octanoylcarnitine
;
Newborn screening
;
Outcome
刊名:Molecular Genetics and Metabolism
出版年:2010
5.
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
作者:
Georgianne
L.
Arnold
;
Johan Van Hove
;
Debra Freedenberg
;
Arnold
Strauss
;
Nicola Longo
;
Barbara Burton
;
Cheryl Garganta
;
Can Ficicioglu
;
Stephen Cederbaum
;
Cary Harding
;
Richard G. Boles
;
Dietrich Mate
关键词:
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
;
Fatty acid oxidation
;
Delphi
;
Clinical practice protocol
;
Newborn screening
刊名:Molecular Genetics and Metabolism
出版年:2009
6.
Late Onset Optic Neuropathy in Methylmalonic and Propionic Acidemia
作者:
Zoë
;
R. Williams
;
P. Emmett Hurley
;
Ugur E. Altiparmak
;
Steven E. Feldon
;
Georgianne
L.
Arnold
;
Eric Eggenberger
;
Luis J. Mejico
刊名:American Journal of Ophthalmology
出版年:2009
7.
Newborn Screening for Krabbe Disease: the New York State Model
作者:
Patricia K. Duffner
;
Michele Caggana
;
Joseph J. Orsini
;
David A. Wenger
;
Marc C. Patterson
;
Carl J. Crosley
;
Joanne Kurtzberg
;
Georgianne
L.
Arnold
;
Maria L. Escolar
;
Darius J. Adams
;
Mary R. Andriola
刊名:Pediatric Neurology
出版年:2009
8.
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
9.
Corrigendum to “Nutritional therapy improves growth and protein status of children with a urea cycle enzyme defect” [Mol. Genet. Metab. 86 (2005) 448–455]
作者:
Phyllis B. Acosta
;
Steven Yannicelli
;
Alan S. Ryan
;
Georgianne
Arnold
;
Barbara J. Marriage
;
Magda Plewinska
;
Laurie Bernstein
;
Joyce Fox
;
Vyonne Lewis
;
Marvin Miller and Antonio Velazquez
刊名:Molecular Genetics and Metabolism
出版年:2006
10.
Nutritional therapy improves growth and protein status of children with a urea cycle enzyme defect
作者:
Phyllis B. Acosta
;
Steven Yannicelli
;
Alan S. Ryan
;
Georgianne
Arnold
;
Barbara J. Marriage
;
Magda Plewinska
;
Laurie Bernstein
;
Joyce Fox
;
Vyonne Lewis
;
Marvin Miller and Antonio Velazquez
刊名:Molecular Genetics and Metabolism
出版年:2005
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