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CNKI学位论文(8)
在“
Elsevier电子期刊
”中,
命中:
26
条,耗时:小于0.01 秒
在所有数据库中总计命中:
8
条
1.
Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients
作者:
Wei-Lien Chuang
;
Joshua Pacheco
;
Samantha Cooper
;
Margaret M. McGovern
;
Gerald F. Cox
;
Joan
Keutzer
;
X. Kate Zhang
关键词:
Dried blood spot
;
Lyso-sphingomyelin
;
Niemann&ndash
;
Pick disease types A and B
;
Sphingomyelin
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
2.
A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease
作者:
Zhaohui Wang
;
Patricia Okamoto
;
Joan
Keutzer
关键词:
IOPD
;
infantile-onset Pompe disease
;
GAA
;
acid 伪-glucosidase
;
ERT
;
enzyme replacement therapy
;
rhGAA
;
recombinant human GAA
;
CRIM
;
cross-reactive immunologic material
;
ITI
;
immune tolerance induction
;
PBMC
;
peripheral blood mononuclear cell
;
PBS
;
phosphate-buffered saline
;
ACD
;
citrate dextrose-A
;
EDTA
;
ethylenediaminetetraacetic acid
;
BSA
;
bovine serum albumin
;
OD
;
optical density
;
LDS
;
lithium dodecyl sulfate
;
DTT
;
dithiothreitol
;
SDS
;
sodium dodecyl sulfate
;
PVDF
;
polyvinylidene difluoride
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
3.
Guidelines for sample collection and handling from the biomarker working group for the mucopolysaccharidoses
作者:
Shari Fallet
;
Nicole Miller
;
Adrian Quartel
;
Evelyn Wang
;
Joan
Keutzer
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
4.
Survival and developmental milestones among Pompe registry patients with classic infantile-onset Pompe disease with different timing of initiation of treatment with enzyme replacement therapy (ERT)
作者:
Yin-Hsiu Chien
;
Ans van der Ploeg
;
Simon A. Jones
;
Barry Byrne
;
Ashok Vellodi
;
Nancy Leslie
;
Eugen Mengel
;
Suma Shankar
;
Pranoot Tanpaiboon
;
David W. Stockton
;
Julia B. Hennermann
;
Zsuzsanna Devecseri
;
Judy Kempf
;
Joan
Keutzer
;
Priya S. Kishnani
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
5.
Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick disease type B patients
作者:
Kate Zhang
;
Wei-lien Chuang
;
Joshua Pacheco
;
Samantha Cooper
;
Margaret McGovern
;
Gerry Cox
;
Joan
Keutzer
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
6.
Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry
作者:
C. Ronald Scott
;
Susan Elliott
;
Norman Buroker
;
Lauren I. Thomas
;
Joan
Keutzer
;
Michael Glass
;
Michael H. Gelb
;
Frantisek Turecek
关键词:
CDC
;
Centers for Disease Control and Prevention
;
GAA
;
¦Á-glucosidase
;
GLA
;
¦Á-galactosidase
;
IDUA
;
¦Á-L-iduronidase
;
LSD
;
Lysosomal storage disease
;
MPS
;
Mucopolysaccharidosis
;
MS/MS
;
Tandem mass spectrometry
;
PCR
;
Polymerase chain reaction
;
QC
;
Quality c
刊名:The Journal of Pediatrics
出版年:2013
7.
Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry
作者:
Elisa Legini
;
Joseph J. Orsini
;
Christina Hung
;
Monica Martin
;
Am
;
a Showers
;
Maurizio Scarpa
;
X Kate Zhang
;
Joan
Keutzer
;
Adolf Mü
;
hl
;
Olaf A. Bodamer
关键词:
Dry blood spot
;
Enzyme
;
Filter card
;
Lysosomal
;
Mass spectrometry
刊名:Clinica Chimica Acta
出版年:2011
8.
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry
作者:
Angé
;
la Dajnoki
;
Gyö
;
rgy Fekete
;
Joan
Keutzer
;
Joseph J. Orsini
;
Victor R. De Jesus
;
Yin-Hsiu Chien
;
Wuh-Liang Hwu
;
Zoltan Lukacs
;
Adolf Mü
;
hl
;
X. Kate Zhang
;
Olaf Bodamer
关键词:
Fabry disease
;
Galactosidase
;
Newborn screening
;
Dried blood
;
Tandem mass spectrometry
刊名:Clinica Chimica Acta
出版年:2010
9.
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program
作者:
Paul Labrousse
;
Yin-Hsiu Chien
;
Robert J. Pomponio
;
Joan
Keutzer
;
Ni-Chung Lee
;
Viatcheslav R. Akmaev
;
Thomas Scholl
;
Wuh-Liang Hwu
关键词:
Pompe disease
;
Acid α
;
-glucosidase
;
Mutation heterozygosity
;
Pseudodeficiency
;
Haplotype
;
Newborn screening
刊名:Molecular Genetics and Metabolism
出版年:2010
10.
Rapid diagnostic testing procedures for lysosomal storage disorders: α-glucosidase and β-galactosidase assays on dried blood spots
作者:
Nicoletta Gasparotto
;
Rosella Tomanin
;
Anna Chiara Frigo
;
Gabriela Niizawa
;
Elisabetta Pasquini
;
Mariana Blanco
;
Maria Alice Donati
;
Joan
Keutzer
;
Franco Zacchello
;
Maurizio Scarpa
关键词:
Lysosomal storage disorders
;
Enzyme assay
;
Dried blood spot
;
α
;
-glucosidase
;
β
;
-galactosidase
刊名:Clinica Chimica Acta
出版年:2009
1
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作者(26)
按出版年细分(26)
2027年及以后(5)
2013年(1)
2011年(1)
2010年(4)
2009年(7)
2008年(5)
2007年(3)
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