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内部出版物
CNKI学位论文(8)
知网期刊论文(17)
在“
Elsevier电子期刊
”中,
命中:
57
条,耗时:小于0.01 秒
在所有数据库中总计命中:
25
条
1.
Risk assessments in infants suspect having later-onset Pompe disease identified through newborn screening
作者:
Yin-Hsiu Chien
;
Pin-Wen Chen
;
Ping-Chun Wang
;
Shu-Chuan Chiang
;
Wuh
-
Liang
Hwu
刊名:Molecular Genetics and Metabolism
出版年:2017
2.
Slowly progressive myopathy in neonatal-treated patients with infantile-onset Pompe disease: A longitudinal prospective muscle MRI cohort study
作者:
Yin-Hsiu Chien
;
Wuh
-
Liang
Hwu
;
Steven Shinn-Forng Peng
刊名:Molecular Genetics and Metabolism
出版年:2016
3.
Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots
作者:
Pin-Wen Chen
;
Ni-Chung Lee
;
Yin-Hsiu Chien
;
Jia-Yun Wu
;
Ping-Chun Wang
;
Wuh
-
Liang
Hwu
;
hwu
wlntu@ntu.edu.tw" class="auth_mail
关键词:
AADC
;
aromatic l-amino-acid decarboxylase
;
CSF
;
cerebrospinal fluid
;
DBS
;
dried blood spot
;
HIAA
;
5-hydroxy indoleacetic acid
;
HVA
;
homovanillic acid
;
MRM
;
multiple reaction monitoring
;
3-OMD
;
3-O-methyldopa
刊名:Clinica Chimica Acta
出版年:20 April, 2014
4.
Prominent vacuolation of the eyelid levator muscle in a child with infantile-onset Pompe disease treated since 2.5 months of age
作者:
Wuh
-
Liang
Hwu
;
Yin-Hsiu Chien
;
Ni-Chung Lee
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
5.
Pompe Disease: Early Diagnosis and Early Treatment Make a Difference
作者:
Yin-Hsiu Chien
;
Wuh
-
Liang
Hwu
;
Ni-Chung Lee
关键词:
acid ¦Á-glucosidase
;
enzyme replacement therapy
;
glycogen storage disease type II
;
newborn screening
;
Pompe disease
刊名:Pediatrics Neonatology
出版年:2013
6.
Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Using High-Resolution Melting Analysis and a Clinical Scoring System
作者:
Szu-Ta Chen
;
MD
1
;
2
;
Yi-Ning Su
;
MD
;
PhD
3
;
Yen-Hsuan Ni
;
MD
;
PhD
2
;
Wuh
-
Liang
Hwu
;
MD
;
PhD
2
;
3
;
Ni-Chung Lee
;
MD
2
;
3
;
Yin-Hsiu Chien
;
MD
;
PhD
2
;
3
;
Cheng-Chi Chang
;
PhD
4
;
Huey-Ling Chen
;
MD
;
PhD
2
;
hueyling@ntu.edu.tw
;
Mei-Hwei Chang
;
MD
2
关键词:
ALT
;
Alanine aminotransferase
;
CTLN2
;
Adult-onset type 2 citrullinemia
;
HRM
;
High-resolution melting
;
NICCD
;
Neonatal intrahepatic cholestasis caused by citrin deficiency
;
PCR
;
Polymerase chain reaction
;
SNP
;
Single-nucleotide polymorphism
刊名:The Journal of Pediatrics
出版年:2012
7.
A Novel 3670-Base Pair Mitochondrial DNA Deletion Resulting in Multi-systemic Manifestations in a Child
作者:
Hsin-Ming Liu
;
Li-Ping Tsai
;
Yin-Hsiu Chien
;
Jia-Feng Wu
;
Wen-Chin Weng
;
Shinn-Forng Peng
;
En-Ting Wu
;
Pei-Hsin Huang
;
Wang-Tso Lee
;
I-Jun Tsai
;
Wuh
-
Liang
Hwu
;
Ni-Chung Lee
关键词:
Fanconi syndrome
;
mitochondrial DNA deletion
;
pancreatitis
刊名:Pediatrics Neonatology
出版年:2012
8.
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region
作者:
Wuh
-
Liang
Hwu
;
Torayuki Okuyama
;
Wai Man But
;
Sylvia Estrada
;
Xuefan Gu
;
Joannie Hui
;
Motomichi Kosuga
;
Shuan-Pei Lin
;
Lock-Hock Ngu
;
Huiping Shi
;
Akemi Tanaka
;
Meow-Keong Thong
;
Duangrurdee Wattanasirichaigoon
;
Pornswan Wasant
;
Jim McGill
关键词:
ARSB
;
arylsulfatase B gene
;
ASB
;
arylsulfatase B
;
BMT
;
bone marrow transplantation
;
DBS
;
dry blood spot
;
dx
;
diagnosis
;
ERT
;
enzyme replacement therapy
;
GAG
;
glycosaminoglycan
;
HSCT
;
hematopoietic stem cell transplantation
;
LSDP
;
Life Saving Drugs Program
刊名:Molecular Genetics and Metabolism
出版年:2012
9.
PSORS2 Is Due to Mutations in CARD14
作者:
Catherine
;
T. Jordan
1
;
Li Cao
1
;
Elisha
;
D.O. Roberson
1
;
Katherine
;
C. Pierson
2
;
Chi-Fan Yang
3
;
Cailin
;
E. Joyce
1
;
Caitriona Ryan
4
;
Shenghui Duan
1
;
Cynthia
;
A. Helms
1
;
Yin Liu
5
;
Yongqing Chen
5
;
Alison
;
A. McBride
6
;
Wuh
-
Liang
Hwu
7
;
Jer-Yuarn Wu
3
;
Yuan-Tsong Chen
3
;
Alan Menter
4
;
8
;
Raphaela Goldbach-Mansky
5
;
8
;
Michelle
;
A. Lowes
2
;
8
;
Anne
;
M. Bowcock
1
;
bowcock@genetics.wustl.edu
刊名:The American Journal of Human Genetics
出版年:2012
10.
Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease
作者:
Yin-Hsiu Chien
;
MD
;
PhD
a
;
b
;
Ni-Chung Lee
;
MD
a
;
b
;
Pei-Hsin Huang
;
MD
;
PhD
c
;
Wang-Tso Lee
;
MD
;
PhD
b
;
Beth L. Thurberg
;
MD
;
PhD
d
;
Wuh
-
Liang
Hwu
;
MD
;
PhD
a
;
b
;
hwu
wlntu@ntu.edu.tw
刊名:Pediatric Neurology
出版年:2012
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