学术探索
学术期刊
新闻热点
数据分析
智能评审
立即登录
A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene
被引:15
作者
:
Alcaide, Patricia
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Autonoma Madrid, CSIC UAM, Dept Biol Mol CBM SO, Ctr Diagnost Enfermedades Mol, Madrid, Spain
CIBERER, Madrid, Spain
Univ Autonoma Madrid, CSIC UAM, Dept Biol Mol CBM SO, Ctr Diagnost Enfermedades Mol, Madrid, Spain
Alcaide, Patricia
[
1
,
2
]
Rodriguez-Pombo, Pilar
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Autonoma Madrid, CSIC UAM, Dept Biol Mol CBM SO, Ctr Diagnost Enfermedades Mol, Madrid, Spain
CIBERER, Madrid, Spain
Univ Autonoma Madrid, CSIC UAM, Dept Biol Mol CBM SO, Ctr Diagnost Enfermedades Mol, Madrid, Spain
Rodriguez-Pombo, Pilar
[
1
,
2
]
Ruiz-Sala, Pedro
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Autonoma Madrid, CSIC UAM, Dept Biol Mol CBM SO, Ctr Diagnost Enfermedades Mol, Madrid, Spain
CIBERER, Madrid, Spain
Univ Autonoma Madrid, CSIC UAM, Dept Biol Mol CBM SO, Ctr Diagnost Enfermedades Mol, Madrid, Spain
Ruiz-Sala, Pedro
[
1
,
2
]
Ferrer, Isaac
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Autonoma Madrid, CSIC UAM, Dept Biol Mol CBM SO, Ctr Diagnost Enfermedades Mol, Madrid, Spain
CIBERER, Madrid, Spain
Univ Autonoma Madrid, CSIC UAM, Dept Biol Mol CBM SO, Ctr Diagnost Enfermedades Mol, Madrid, Spain
Ferrer, Isaac
[
1
,
2
]
Castro, Pedro
论文数:
0
引用数:
0
h-index:
0
机构:
Hosp Gen Gregorio Maranon, Serv Neuropediat, Madrid, Spain
Univ Autonoma Madrid, CSIC UAM, Dept Biol Mol CBM SO, Ctr Diagnost Enfermedades Mol, Madrid, Spain
Castro, Pedro
[
3
]
Ruiz Martin, Yolanda
论文数:
0
引用数:
0
h-index:
0
机构:
Hosp Gen Gregorio Maranon, Serv Neuropediat, Madrid, Spain
Univ Autonoma Madrid, CSIC UAM, Dept Biol Mol CBM SO, Ctr Diagnost Enfermedades Mol, Madrid, Spain
Ruiz Martin, Yolanda
[
3
]
Merinero, Begona
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Autonoma Madrid, CSIC UAM, Dept Biol Mol CBM SO, Ctr Diagnost Enfermedades Mol, Madrid, Spain
CIBERER, Madrid, Spain
Univ Autonoma Madrid, CSIC UAM, Dept Biol Mol CBM SO, Ctr Diagnost Enfermedades Mol, Madrid, Spain
Merinero, Begona
[
1
,
2
]
Ugarte, Magdalena
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Autonoma Madrid, CSIC UAM, Dept Biol Mol CBM SO, Ctr Diagnost Enfermedades Mol, Madrid, Spain
CIBERER, Madrid, Spain
Univ Autonoma Madrid, CSIC UAM, Dept Biol Mol CBM SO, Ctr Diagnost Enfermedades Mol, Madrid, Spain
Ugarte, Magdalena
[
1
,
2
]
机构
:
[1]
Univ Autonoma Madrid, CSIC UAM, Dept Biol Mol CBM SO, Ctr Diagnost Enfermedades Mol, Madrid, Spain
[2]
CIBERER, Madrid, Spain
[3]
Hosp Gen Gregorio Maranon, Serv Neuropediat, Madrid, Spain
来源
:
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
|
2010年
/ 52卷
/ 02期
关键词
:
MENTAL-RETARDATION;
GUANIDINOACETATE;
DEFECT;
D O I
:
10.1111/j.1469-8749.2009.03480.x
中图分类号
:
R74 [神经病学与精神病学];
学科分类号
:
摘要
:
引用
收藏
页码:215 / 217
页数:3
相关论文
共 15 条
[11]
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation
[J].
Lion-Francois, L.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Lion-Francois, L.
;
Cheillan, D.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Cheillan, D.
;
Pitelet, G.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Pitelet, G.
;
Acquaviva-Bourdain, C.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Acquaviva-Bourdain, C.
;
Bussy, G.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Bussy, G.
;
Cotton, F.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Cotton, F.
;
Guibaud, L.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Guibaud, L.
;
Gerard, D.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Gerard, D.
;
Rivier, C.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Rivier, C.
;
Vianey-Saban, C.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Vianey-Saban, C.
;
Jakobs, C.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Jakobs, C.
;
Salomons, G. S.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Salomons, G. S.
;
Portes, V. des
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Portes, V. des
.
NEUROLOGY,
2006,
67
(09)
:1713
-1714
[12]
Screening of male patients with autism spectrum disorder for creatine transporter deficiency
[J].
Newmeyer, A.
论文数:
0
引用数:
0
h-index:
0
机构:
Cincinnati Childrens Hosp, Med Ctr, Div Pediat, Cincinnati, OH 45229 USA
Cincinnati Childrens Hosp, Med Ctr, Div Pediat, Cincinnati, OH 45229 USA
Newmeyer, A.
;
deGrauw, T.
论文数:
0
引用数:
0
h-index:
0
机构:
Cincinnati Childrens Hosp, Med Ctr, Div Neurol, Cincinnati, OH USA
Cincinnati Childrens Hosp, Med Ctr, Div Pediat, Cincinnati, OH 45229 USA
deGrauw, T.
;
Clark, J.
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cincinnati, Dept Neurol, Cincinnati, OH USA
Cincinnati Childrens Hosp, Med Ctr, Div Pediat, Cincinnati, OH 45229 USA
Clark, J.
;
Chuck, G.
论文数:
0
引用数:
0
h-index:
0
机构:
Cincinnati Childrens Hosp, Med Ctr, Div Neurol, Cincinnati, OH USA
Cincinnati Childrens Hosp, Med Ctr, Div Pediat, Cincinnati, OH 45229 USA
Chuck, G.
;
Salomons, G.
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Amsterdam, Netherlands
Cincinnati Childrens Hosp, Med Ctr, Div Pediat, Cincinnati, OH 45229 USA
Salomons, G.
.
NEUROPEDIATRICS,
2007,
38
(06)
:310
-312
[13]
High prevalence of SLC6A8 deficiency in X-linked mental retardation
[J].
Rosenberg, EH
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Rosenberg, EH
;
Almeida, LS
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Almeida, LS
;
Kleefstra, T
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Kleefstra, T
;
deGrauw, RS
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
deGrauw, RS
;
Yntema, HG
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Yntema, HG
;
Bahi, N
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Bahi, N
;
Moraine, C
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Moraine, C
;
Ropers, HH
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Ropers, HH
;
Fryns, JP
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Fryns, JP
;
deGrauw, TJ
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
deGrauw, TJ
;
Jakobs, C
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Jakobs, C
;
Salomons, GS
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Salomons, GS
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2004,
75
(01)
:97
-105
[14]
X-linked creatine-transporter gene (SLC6A8) defect:: A new creatine-deficiency syndrome
[J].
Salomons, GS
论文数:
0
引用数:
0
h-index:
0
机构:
VU Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Salomons, GS
;
van Dooren, SJM
论文数:
0
引用数:
0
h-index:
0
机构:
VU Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
van Dooren, SJM
;
Verhoeven, NM
论文数:
0
引用数:
0
h-index:
0
机构:
VU Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Verhoeven, NM
;
Cecil, KM
论文数:
0
引用数:
0
h-index:
0
机构:
VU Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Cecil, KM
;
Ball, WS
论文数:
0
引用数:
0
h-index:
0
机构:
VU Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Ball, WS
;
Degrauw, TJ
论文数:
0
引用数:
0
h-index:
0
机构:
VU Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Degrauw, TJ
;
Jakobs, C
论文数:
0
引用数:
0
h-index:
0
机构:
VU Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Jakobs, C
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2001,
68
(06)
:1497
-1500
[15]
Schiaffino MC, 2005, NEUROGENETICS, V6, P165, DOI 10.1007/s10048-005-0002-4
←
1
2
→
共 15 条
[11]
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation
[J].
Lion-Francois, L.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Lion-Francois, L.
;
Cheillan, D.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Cheillan, D.
;
Pitelet, G.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Pitelet, G.
;
Acquaviva-Bourdain, C.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Acquaviva-Bourdain, C.
;
Bussy, G.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Bussy, G.
;
Cotton, F.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Cotton, F.
;
Guibaud, L.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Guibaud, L.
;
Gerard, D.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Gerard, D.
;
Rivier, C.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Rivier, C.
;
Vianey-Saban, C.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Vianey-Saban, C.
;
Jakobs, C.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Jakobs, C.
;
Salomons, G. S.
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Salomons, G. S.
;
Portes, V. des
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France
Portes, V. des
.
NEUROLOGY,
2006,
67
(09)
:1713
-1714
[12]
Screening of male patients with autism spectrum disorder for creatine transporter deficiency
[J].
Newmeyer, A.
论文数:
0
引用数:
0
h-index:
0
机构:
Cincinnati Childrens Hosp, Med Ctr, Div Pediat, Cincinnati, OH 45229 USA
Cincinnati Childrens Hosp, Med Ctr, Div Pediat, Cincinnati, OH 45229 USA
Newmeyer, A.
;
deGrauw, T.
论文数:
0
引用数:
0
h-index:
0
机构:
Cincinnati Childrens Hosp, Med Ctr, Div Neurol, Cincinnati, OH USA
Cincinnati Childrens Hosp, Med Ctr, Div Pediat, Cincinnati, OH 45229 USA
deGrauw, T.
;
Clark, J.
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cincinnati, Dept Neurol, Cincinnati, OH USA
Cincinnati Childrens Hosp, Med Ctr, Div Pediat, Cincinnati, OH 45229 USA
Clark, J.
;
Chuck, G.
论文数:
0
引用数:
0
h-index:
0
机构:
Cincinnati Childrens Hosp, Med Ctr, Div Neurol, Cincinnati, OH USA
Cincinnati Childrens Hosp, Med Ctr, Div Pediat, Cincinnati, OH 45229 USA
Chuck, G.
;
Salomons, G.
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Amsterdam, Netherlands
Cincinnati Childrens Hosp, Med Ctr, Div Pediat, Cincinnati, OH 45229 USA
Salomons, G.
.
NEUROPEDIATRICS,
2007,
38
(06)
:310
-312
[13]
High prevalence of SLC6A8 deficiency in X-linked mental retardation
[J].
Rosenberg, EH
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Rosenberg, EH
;
Almeida, LS
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Almeida, LS
;
Kleefstra, T
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Kleefstra, T
;
deGrauw, RS
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
deGrauw, RS
;
Yntema, HG
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Yntema, HG
;
Bahi, N
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Bahi, N
;
Moraine, C
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Moraine, C
;
Ropers, HH
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Ropers, HH
;
Fryns, JP
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Fryns, JP
;
deGrauw, TJ
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
deGrauw, TJ
;
Jakobs, C
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Jakobs, C
;
Salomons, GS
论文数:
0
引用数:
0
h-index:
0
机构:
Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Salomons, GS
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2004,
75
(01)
:97
-105
[14]
X-linked creatine-transporter gene (SLC6A8) defect:: A new creatine-deficiency syndrome
[J].
Salomons, GS
论文数:
0
引用数:
0
h-index:
0
机构:
VU Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Salomons, GS
;
van Dooren, SJM
论文数:
0
引用数:
0
h-index:
0
机构:
VU Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
van Dooren, SJM
;
Verhoeven, NM
论文数:
0
引用数:
0
h-index:
0
机构:
VU Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Verhoeven, NM
;
Cecil, KM
论文数:
0
引用数:
0
h-index:
0
机构:
VU Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Cecil, KM
;
Ball, WS
论文数:
0
引用数:
0
h-index:
0
机构:
VU Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Ball, WS
;
Degrauw, TJ
论文数:
0
引用数:
0
h-index:
0
机构:
VU Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Degrauw, TJ
;
Jakobs, C
论文数:
0
引用数:
0
h-index:
0
机构:
VU Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands
Jakobs, C
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2001,
68
(06)
:1497
-1500
[15]
Schiaffino MC, 2005, NEUROGENETICS, V6, P165, DOI 10.1007/s10048-005-0002-4
←
1
2
→