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内部出版物
Elsevier电子期刊(2)
在“
Elsevier电子期刊
”中,
命中:
2
条,耗时:0.1289399 秒
在所有数据库中总计命中:
2
条
1.
Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome
作者:
Amal Al Teneiji
;
MD
a
;
Komudi Siriwardena
;
MD
b
;
Kristen George
;
NP
c
;
Seema Mital
;
MD
c
;
Saadet
Mercimek-
Mahmutoglu
;
MD
;
PhD
a
;
d
;
saadet
.
mahmutoglu
@sickkids.ca"
class
="auth_
mail
"
title
="E-
mail
the
corresponding
author
关键词:
ataxia
;
dilated cardiomyopathy
;
DNAJC19 gene
;
cerebellar atrophy
;
3-methylglutaconic acid
刊名:Pediatric Neurology
出版年:2016
2.
A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1
作者:
Muhammad Mahajnah
;
MD
;
PhD
a
;
b
;
c
;
Dawn Corderio
;
RN
c
;
Valerie Austin
;
RD
c
;
Sarah Herd
;
RD
c
;
Carly Mutch
;
OT
d
;
Melissa Carter
;
MD
c
;
Eduard Struys
;
PhD
e
;
Saadet
Mercimek-
Mahmutoglu
;
MD
;
PhD
c
;
f
;
saadet
.
mahmutoglu
@sickkids.ca"
class
="auth_
mail
"
title
="E-
mail
the
corresponding
author
关键词:
pyridoxine-dependent epilepsy
;
lysine-restricted diet
;
ALDHA71 gene
;
arginine supplementation
刊名:Pediatric Neurology
出版年:2016
1
按检索点细分(2)
作者(2)
按出版年细分(2)
2016年(2)
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