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CNKI学位论文(311)
CNKI期刊论文0611(1)
知网期刊论文(175)
在“
Elsevier电子期刊
”中,
命中:
42
条,耗时:0.0849603 秒
在所有数据库中总计命中:
487
条
1.
Cognitive decline in classic infantile Pompe disease, an un
der
acknowledged challenge
作者:
Berendine J. Ebbink
;
Esther Poelman
;
Iris Plug
;
Maarten H. Lequin
;
Pieter A.
van
Doorn
;
Femke K. Aarsen
;
Ans
T.
van
der
Ploeg
;
Johanna M.P.
van
den Hout
刊名:Molecular Genetics and Metabolism
出版年:2016
2.
Compromised satellite cell activation contributes to continued muscle wasting in Pompe disease
作者:
Gerben Schaaf
;
Tom
van
Gestel
;
Esther Brusse
;
Robbert M. Verdijk
;
Iraneus F.M. de Coo
;
Pieter A.
van
Doorn
;
Ans
T.
van
der
Ploeg
;
Pim W.W.M. Pijnappel
刊名:Molecular Genetics and Metabolism
出版年:2016
3.
A diagnostic approach for the unbiased identification of splice switching variants enables tailored antisense oligonucleotide-based correction
作者:
Atze J. Bergsma
;
Stijn L.M. in't Groen
;
Ans
T.
van
der
Ploeg
;
Pim W.W.M. Pijnappel
刊名:Molecular Genetics and Metabolism
出版年:2016
4.
The Pompe survey: a summary of 10 years follow-up through patient reported outcomes on non-classic Pompe patients
作者:
J.C. (Chris)
van
der
Meijden
;
Deniz G眉ng枚r
;
Michelle E. Kruijshaar
;
Ans
T.
van
der
Ploeg
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
5.
Increased aortic stiffness and blood pressure in non-classic Pompe disease
作者:
Esther Kuperus
;
Stephan C.A. Wens
;
Francesco U.S. Mattace-Raso
;
Michelle E. Michelle
;
Esther Brusse
;
Kees C.A.G.M.
van
Montfort
;
Marjan Scheltens- de Boer
;
Eric J.G. Sijbr
s ;
Ans
T.
van
der
Ploeg
;
Pieter A.
van
Doorn
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
6.
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
7.
The impact of informal care for patients with Pompe disease: An application of the CarerQol instrument
作者:
Tim A. Kanters
;
Ans
T.
van
der
Ploeg
;
Werner B.F. Brouwer
;
Leona Hakkaart
关键词:
Pompe disease
;
Informal care
;
CarerQol instrument
;
Caregiver burden
刊名:Molecular Genetics and Metabolism
出版年:2013
8.
Residual ¦Á-l-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients
作者:
Esmee Oussoren
;
Joke Keulem
ans
;
Otto P.
van
Diggelen
;
Linda F. Oemardien
;
Remco G. Timmerm
ans
;
Ans
T.
van
der
Ploeg
;
George J.G. Ruijter
关键词:
4MU
;
4-methylumbelliferone
;
ERT
;
enzyme-replacement therapy
;
HSCT
;
hematopoietic stem cell tr
ans
plantation
;
IDUA
;
¦Á-l-iduronidase
;
MPS
;
mucopolysaccharidosis
;
MPS IH
;
Hurler syndrome
;
MPS IH/S
;
Hurler&ndash
;
Scheie syndrome
;
MPS IS
;
Scheie syndrome
刊名:Molecular Genetics and Metabolism
出版年:2013
9.
Physiotherapy management in late-onset Pompe disease: Clinical practice in 88 patients
作者:
Marein M. Favejee
;
Bionka M.A. Huisstede
;
Johannes B.J. Bussmann
;
Michelle E. Kruijshaar
;
Ans
T.
van
der
Ploeg
关键词:
ERT
;
enzyme replacement therapy
;
NMD
;
neuromuscular disor
der
s
;
ADL
;
activities of daily living
;
MSE
;
muscle strengthening exercises
;
AET
;
aerobic exercise therapy
;
HEP
;
home exercise program
刊名:Molecular Genetics and Metabolism
出版年:2012
10.
Aerobic fitness, functional exercise capacity and muscle strength of adults with intellectual disability
作者:
K. Lante
1
;
;
G. Davis
1
;
R. Stancliffe
1
;
A. Bauman
1
;
S. Jan
2
;
H.
van
der
Ploeg
1
刊名:Journal of Science and Medicine in Sport
出版年:2012
1
2
3
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