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A sporadic case of cystinuria, respiratory chain and growth hormone deficiencies
被引:10
作者
:
Zaffanello, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Verona, Dept Pediat, I-37134 Verona, Italy
Zaffanello, M
Beghini, R
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Verona, Dept Pediat, I-37134 Verona, Italy
Beghini, R
Zamboni, G
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Verona, Dept Pediat, I-37134 Verona, Italy
Zamboni, G
论文数:
引用数:
h-index:
机构:
Fanos, V
机构
:
[1]
Univ Verona, Dept Pediat, I-37134 Verona, Italy
[2]
Reg Ctr Neonatal Congenital Errors Metab, Verona, Italy
来源
:
PEDIATRIC NEPHROLOGY
|
2003年
/ 18卷
/ 08期
关键词
:
cystinuria;
growth hormone deficiency;
mitochondrial disease;
D O I
:
10.1007/s00467-003-1189-y
中图分类号
:
R72 [儿科学];
学科分类号
:
100202 ;
摘要
:
引用
收藏
页码:846 / 847
页数:2
相关论文
共 7 条
[1]
GENETIC-HETEROGENEITY IN CYSTINURIA - THE SLC3A1 GENE IS LINKED TO TYPE-I BUT NOT TO TYPE-III CYSTINURIA
[J].
CALONGE, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
CALONGE, MJ
;
VOLPINI, V
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
VOLPINI, V
;
BISCEGLIA, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
BISCEGLIA, L
;
ROUSAUD, F
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
ROUSAUD, F
;
DESANCTIS, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
DESANCTIS, L
;
BECCIA, E
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
BECCIA, E
;
ZELANTE, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
ZELANTE, L
;
TESTAR, X
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
TESTAR, X
;
ZORZANO, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
ZORZANO, A
;
ESTIVILL, X
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
ESTIVILL, X
;
GASPARINI, P
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
GASPARINI, P
;
NUNES, V
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
NUNES, V
;
PALACIN, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
PALACIN, M
.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
1995,
92
(21)
:9667
-9671
[2]
Cystinuria subtype and the risk of nephrolithiasis
[J].
论文数:
引用数:
h-index:
机构:
Goodyer, P
;
Saadi, I
论文数:
0
引用数:
0
h-index:
0
机构:
McGill Univ, Montreal Childrens Hosp, Dept Pediat, Montreal, PQ H3H 1P3, Canada
Saadi, I
;
Ong, P
论文数:
0
引用数:
0
h-index:
0
机构:
McGill Univ, Montreal Childrens Hosp, Dept Pediat, Montreal, PQ H3H 1P3, Canada
Ong, P
;
Elkas, G
论文数:
0
引用数:
0
h-index:
0
机构:
McGill Univ, Montreal Childrens Hosp, Dept Pediat, Montreal, PQ H3H 1P3, Canada
Elkas, G
;
Rozen, R
论文数:
0
引用数:
0
h-index:
0
机构:
McGill Univ, Montreal Childrens Hosp, Dept Pediat, Montreal, PQ H3H 1P3, Canada
Rozen, R
.
KIDNEY INTERNATIONAL,
1998,
54
(01)
:56
-61
[3]
Treatment of cystinuria
[J].
Joly, D
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Joly, D
;
Rieu, P
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Rieu, P
;
Méjean, A
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Méjean, A
;
Gagnadoux, MF
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Gagnadoux, MF
;
Daudon, M
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Daudon, M
;
Jungers, P
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Jungers, P
.
PEDIATRIC NEPHROLOGY,
1999,
13
(09)
:945
-950
[4]
A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease
[J].
Parvari, R
论文数:
0
引用数:
0
h-index:
0
机构:
Ben Gurion Univ Negev, Soroka Med Ctr, Dept Pediat, IL-84105 Beer Sheva, Israel
Parvari, R
;
Brodyansky, I
论文数:
0
引用数:
0
h-index:
0
机构:
Ben Gurion Univ Negev, Soroka Med Ctr, Dept Pediat, IL-84105 Beer Sheva, Israel
Brodyansky, I
;
Elpeleg, O
论文数:
0
引用数:
0
h-index:
0
机构:
Ben Gurion Univ Negev, Soroka Med Ctr, Dept Pediat, IL-84105 Beer Sheva, Israel
Elpeleg, O
;
Moses, S
论文数:
0
引用数:
0
h-index:
0
机构:
Ben Gurion Univ Negev, Soroka Med Ctr, Dept Pediat, IL-84105 Beer Sheva, Israel
Moses, S
;
Landau, D
论文数:
0
引用数:
0
h-index:
0
机构:
Ben Gurion Univ Negev, Soroka Med Ctr, Dept Pediat, IL-84105 Beer Sheva, Israel
Landau, D
;
Hershkovitz, E
论文数:
0
引用数:
0
h-index:
0
机构:
Ben Gurion Univ Negev, Soroka Med Ctr, Dept Pediat, IL-84105 Beer Sheva, Israel
Hershkovitz, E
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2001,
69
(04)
:869
-875
[5]
CONTIGUOUS GENE SYNDROMES - A COMPONENT OF RECOGNIZABLE SYNDROMES
[J].
SCHMICKEL, RD
论文数:
0
引用数:
0
h-index:
0
SCHMICKEL, RD
.
JOURNAL OF PEDIATRICS,
1986,
109
(02)
:231
-241
[6]
SEGAL S, 1995, METABOLIC MOL BASES, P3581
[7]
CHILDHOOD CYSTINURIA IN NEW-SOUTH-WALES - RESULTS IN CHILDREN WHO WERE FOLLOWED UP AFTER BEING DETECTED BY URINARY SCREENING IN INFANCY
[J].
SMITH, A
论文数:
0
引用数:
0
h-index:
0
机构:
ROYAL ALEXANDRA HOSP CHILDREN, CAMPERDOWN 2050, NEW S WALES, AUSTRALIA
ROYAL ALEXANDRA HOSP CHILDREN, CAMPERDOWN 2050, NEW S WALES, AUSTRALIA
SMITH, A
;
YU, JS
论文数:
0
引用数:
0
h-index:
0
机构:
ROYAL ALEXANDRA HOSP CHILDREN, CAMPERDOWN 2050, NEW S WALES, AUSTRALIA
ROYAL ALEXANDRA HOSP CHILDREN, CAMPERDOWN 2050, NEW S WALES, AUSTRALIA
YU, JS
;
BROWN, DA
论文数:
0
引用数:
0
h-index:
0
机构:
ROYAL ALEXANDRA HOSP CHILDREN, CAMPERDOWN 2050, NEW S WALES, AUSTRALIA
ROYAL ALEXANDRA HOSP CHILDREN, CAMPERDOWN 2050, NEW S WALES, AUSTRALIA
BROWN, DA
.
ARCHIVES OF DISEASE IN CHILDHOOD,
1979,
54
(09)
:676
-681
←
1
→
共 7 条
[1]
GENETIC-HETEROGENEITY IN CYSTINURIA - THE SLC3A1 GENE IS LINKED TO TYPE-I BUT NOT TO TYPE-III CYSTINURIA
[J].
CALONGE, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
CALONGE, MJ
;
VOLPINI, V
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
VOLPINI, V
;
BISCEGLIA, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
BISCEGLIA, L
;
ROUSAUD, F
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
ROUSAUD, F
;
DESANCTIS, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
DESANCTIS, L
;
BECCIA, E
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
BECCIA, E
;
ZELANTE, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
ZELANTE, L
;
TESTAR, X
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
TESTAR, X
;
ZORZANO, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
ZORZANO, A
;
ESTIVILL, X
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
ESTIVILL, X
;
GASPARINI, P
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
GASPARINI, P
;
NUNES, V
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
NUNES, V
;
PALACIN, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,FAC BIOL,DEPT BIOQUIM & FISIOL,UNITAT BIOQUIM & BIOL MOLEC B,E-08028 BARCELONA,SPAIN
PALACIN, M
.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
1995,
92
(21)
:9667
-9671
[2]
Cystinuria subtype and the risk of nephrolithiasis
[J].
论文数:
引用数:
h-index:
机构:
Goodyer, P
;
Saadi, I
论文数:
0
引用数:
0
h-index:
0
机构:
McGill Univ, Montreal Childrens Hosp, Dept Pediat, Montreal, PQ H3H 1P3, Canada
Saadi, I
;
Ong, P
论文数:
0
引用数:
0
h-index:
0
机构:
McGill Univ, Montreal Childrens Hosp, Dept Pediat, Montreal, PQ H3H 1P3, Canada
Ong, P
;
Elkas, G
论文数:
0
引用数:
0
h-index:
0
机构:
McGill Univ, Montreal Childrens Hosp, Dept Pediat, Montreal, PQ H3H 1P3, Canada
Elkas, G
;
Rozen, R
论文数:
0
引用数:
0
h-index:
0
机构:
McGill Univ, Montreal Childrens Hosp, Dept Pediat, Montreal, PQ H3H 1P3, Canada
Rozen, R
.
KIDNEY INTERNATIONAL,
1998,
54
(01)
:56
-61
[3]
Treatment of cystinuria
[J].
Joly, D
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Joly, D
;
Rieu, P
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Rieu, P
;
Méjean, A
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Méjean, A
;
Gagnadoux, MF
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Gagnadoux, MF
;
Daudon, M
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Daudon, M
;
Jungers, P
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Hop Necker Enfants Malad, Dept Nephrol, F-75015 Paris, France
Jungers, P
.
PEDIATRIC NEPHROLOGY,
1999,
13
(09)
:945
-950
[4]
A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease
[J].
Parvari, R
论文数:
0
引用数:
0
h-index:
0
机构:
Ben Gurion Univ Negev, Soroka Med Ctr, Dept Pediat, IL-84105 Beer Sheva, Israel
Parvari, R
;
Brodyansky, I
论文数:
0
引用数:
0
h-index:
0
机构:
Ben Gurion Univ Negev, Soroka Med Ctr, Dept Pediat, IL-84105 Beer Sheva, Israel
Brodyansky, I
;
Elpeleg, O
论文数:
0
引用数:
0
h-index:
0
机构:
Ben Gurion Univ Negev, Soroka Med Ctr, Dept Pediat, IL-84105 Beer Sheva, Israel
Elpeleg, O
;
Moses, S
论文数:
0
引用数:
0
h-index:
0
机构:
Ben Gurion Univ Negev, Soroka Med Ctr, Dept Pediat, IL-84105 Beer Sheva, Israel
Moses, S
;
Landau, D
论文数:
0
引用数:
0
h-index:
0
机构:
Ben Gurion Univ Negev, Soroka Med Ctr, Dept Pediat, IL-84105 Beer Sheva, Israel
Landau, D
;
Hershkovitz, E
论文数:
0
引用数:
0
h-index:
0
机构:
Ben Gurion Univ Negev, Soroka Med Ctr, Dept Pediat, IL-84105 Beer Sheva, Israel
Hershkovitz, E
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2001,
69
(04)
:869
-875
[5]
CONTIGUOUS GENE SYNDROMES - A COMPONENT OF RECOGNIZABLE SYNDROMES
[J].
SCHMICKEL, RD
论文数:
0
引用数:
0
h-index:
0
SCHMICKEL, RD
.
JOURNAL OF PEDIATRICS,
1986,
109
(02)
:231
-241
[6]
SEGAL S, 1995, METABOLIC MOL BASES, P3581
[7]
CHILDHOOD CYSTINURIA IN NEW-SOUTH-WALES - RESULTS IN CHILDREN WHO WERE FOLLOWED UP AFTER BEING DETECTED BY URINARY SCREENING IN INFANCY
[J].
SMITH, A
论文数:
0
引用数:
0
h-index:
0
机构:
ROYAL ALEXANDRA HOSP CHILDREN, CAMPERDOWN 2050, NEW S WALES, AUSTRALIA
ROYAL ALEXANDRA HOSP CHILDREN, CAMPERDOWN 2050, NEW S WALES, AUSTRALIA
SMITH, A
;
YU, JS
论文数:
0
引用数:
0
h-index:
0
机构:
ROYAL ALEXANDRA HOSP CHILDREN, CAMPERDOWN 2050, NEW S WALES, AUSTRALIA
ROYAL ALEXANDRA HOSP CHILDREN, CAMPERDOWN 2050, NEW S WALES, AUSTRALIA
YU, JS
;
BROWN, DA
论文数:
0
引用数:
0
h-index:
0
机构:
ROYAL ALEXANDRA HOSP CHILDREN, CAMPERDOWN 2050, NEW S WALES, AUSTRALIA
ROYAL ALEXANDRA HOSP CHILDREN, CAMPERDOWN 2050, NEW S WALES, AUSTRALIA
BROWN, DA
.
ARCHIVES OF DISEASE IN CHILDHOOD,
1979,
54
(09)
:676
-681
←
1
→