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Lysinuric protein intolerance:: one gene, many problems
被引:16
作者
:
Broeer, Stefan
论文数:
0
引用数:
0
h-index:
0
机构:
Australian Natl Univ, Sch Biochem & Mol Biol, Canberra, ACT 0200, Australia
Australian Natl Univ, Sch Biochem & Mol Biol, Canberra, ACT 0200, Australia
Broeer, Stefan
[
1
]
机构
:
[1]
Australian Natl Univ, Sch Biochem & Mol Biol, Canberra, ACT 0200, Australia
来源
:
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
|
2007年
/ 293卷
/ 02期
关键词
:
D O I
:
10.1152/ajpcell.00166.2007
中图分类号
:
Q2 [细胞生物学];
学科分类号
:
071009
[细胞生物学]
;
090102
[作物遗传育种]
;
摘要
:
引用
收藏
页码:C540 / C541
页数:2
相关论文
共 21 条
[1]
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
[J].
Borsani, G
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Borsani, G
;
Bassi, MT
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Bassi, MT
;
Sperandeo, MP
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Sperandeo, MP
;
De Grandi, A
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
De Grandi, A
;
Buoninconti, A
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Buoninconti, A
;
Riboni, M
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Riboni, M
;
Manzoni, M
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Manzoni, M
;
Incerti, B
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Incerti, B
;
Pepe, A
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Pepe, A
;
Andria, G
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Andria, G
;
Ballabio, A
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Ballabio, A
;
Sebastio, G
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Sebastio, G
.
NATURE GENETICS,
1999,
21
(03)
:297
-301
[2]
The heterodimeric amino acid transporter 4F2hc/y+LAT2 mediates arginine efflux in exchange with glutamine
[J].
Bröer, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Tubingen, Inst Physiol, D-72076 Tubingen, Germany
Bröer, A
;
Wagner, CA
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Tubingen, Inst Physiol, D-72076 Tubingen, Germany
Wagner, CA
;
Lang, F
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Tubingen, Inst Physiol, D-72076 Tubingen, Germany
Lang, F
;
Bröer, S
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Tubingen, Inst Physiol, D-72076 Tubingen, Germany
Bröer, S
.
BIOCHEMICAL JOURNAL,
2000,
349
:787
-795
[3]
Growth hormone deficiency in a patient with lysinuric protein intolerance
[J].
Esposito, Valentina
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Naples Federico II, Dept Pediat, I-80131 Naples, Italy
Univ Naples Federico II, Dept Pediat, I-80131 Naples, Italy
Esposito, Valentina
;
Lettiero, Teresa
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Naples Federico II, Dept Pediat, I-80131 Naples, Italy
Univ Naples Federico II, Dept Pediat, I-80131 Naples, Italy
Lettiero, Teresa
;
论文数:
引用数:
h-index:
机构:
Fecarotta, Simona
;
Sebastio, Gianfranco
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Naples Federico II, Dept Pediat, I-80131 Naples, Italy
Univ Naples Federico II, Dept Pediat, I-80131 Naples, Italy
Sebastio, Gianfranco
;
论文数:
引用数:
h-index:
机构:
Parenti, Giancarlo
;
论文数:
引用数:
h-index:
机构:
Salerno, Mariacarolina
.
EUROPEAN JOURNAL OF PEDIATRICS,
2006,
165
(11)
:763
-766
[4]
PLASMA GROWTH HORMONE RESPONSE TO INTRAVENOUS ADMINISTRATION OF AMINO ACIDS
[J].
KNOPF, RF
论文数:
0
引用数:
0
h-index:
0
KNOPF, RF
;
CONN, JW
论文数:
0
引用数:
0
h-index:
0
CONN, JW
;
FAJANS, SS
论文数:
0
引用数:
0
h-index:
0
FAJANS, SS
;
FLOYD, JC
论文数:
0
引用数:
0
h-index:
0
FLOYD, JC
;
GUNTSCHE, EM
论文数:
0
引用数:
0
h-index:
0
GUNTSCHE, EM
;
RULL, JA
论文数:
0
引用数:
0
h-index:
0
RULL, JA
.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
1965,
25
(08)
:1140
-+
[5]
MILNE M. D., 1964, BRIT MED JOUR, V5379, P327
[6]
Lysinuric protein intolerance:: mechanisms of pathophysiology
[J].
论文数:
引用数:
h-index:
机构:
Palacín, M
;
论文数:
引用数:
h-index:
机构:
Bertran, J
;
Chillarón, J
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Barcelona, Fac Biol, Dept Biochem & Mol Biol, E-08028 Barcelona, Spain
Univ Barcelona, Fac Biol, Dept Biochem & Mol Biol, E-08028 Barcelona, Spain
Chillarón, J
;
Estévez, R
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Barcelona, Fac Biol, Dept Biochem & Mol Biol, E-08028 Barcelona, Spain
Univ Barcelona, Fac Biol, Dept Biochem & Mol Biol, E-08028 Barcelona, Spain
Estévez, R
;
Zorzano, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Barcelona, Fac Biol, Dept Biochem & Mol Biol, E-08028 Barcelona, Spain
Univ Barcelona, Fac Biol, Dept Biochem & Mol Biol, E-08028 Barcelona, Spain
Zorzano, A
.
MOLECULAR GENETICS AND METABOLISM,
2004,
81
:S27
-S37
[7]
Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family
[J].
论文数:
引用数:
h-index:
机构:
Pfeiffer, R
;
Rossier, G
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Zurich, Inst Physiol, CH-8057 Zurich, Switzerland
Rossier, G
;
Spindler, B
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Zurich, Inst Physiol, CH-8057 Zurich, Switzerland
Spindler, B
;
Meier, C
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Zurich, Inst Physiol, CH-8057 Zurich, Switzerland
Meier, C
;
Kühn, L
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Zurich, Inst Physiol, CH-8057 Zurich, Switzerland
Kühn, L
;
论文数:
引用数:
h-index:
机构:
Verrey, F
.
EMBO JOURNAL,
1999,
18
(01)
:49
-57
[8]
RAJANTIE J, 1980, LANCET, V1, P1219
[9]
INTESTINAL-ABSORPTION IN LYSINURIC PROTEIN INTOLERANCE - IMPAIRED FOR DIAMINO ACIDS, NORMAL FOR CITRULLINE
[J].
RAJANTIE, J
论文数:
0
引用数:
0
h-index:
0
RAJANTIE, J
;
SIMELL, O
论文数:
0
引用数:
0
h-index:
0
SIMELL, O
;
PERHEENTUPA, J
论文数:
0
引用数:
0
h-index:
0
PERHEENTUPA, J
.
GUT,
1980,
21
(06)
:519
-524
[10]
ROTOLI BM, IN PRESS AM J RESP C
←
1
2
3
→
共 21 条
[1]
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
[J].
Borsani, G
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Borsani, G
;
Bassi, MT
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Bassi, MT
;
Sperandeo, MP
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Sperandeo, MP
;
De Grandi, A
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
De Grandi, A
;
Buoninconti, A
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Buoninconti, A
;
Riboni, M
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Riboni, M
;
Manzoni, M
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Manzoni, M
;
Incerti, B
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Incerti, B
;
Pepe, A
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Pepe, A
;
Andria, G
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Andria, G
;
Ballabio, A
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Ballabio, A
;
Sebastio, G
论文数:
0
引用数:
0
h-index:
0
机构:
TIGEM, I-20132 Milan, Italy
Sebastio, G
.
NATURE GENETICS,
1999,
21
(03)
:297
-301
[2]
The heterodimeric amino acid transporter 4F2hc/y+LAT2 mediates arginine efflux in exchange with glutamine
[J].
Bröer, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Tubingen, Inst Physiol, D-72076 Tubingen, Germany
Bröer, A
;
Wagner, CA
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Tubingen, Inst Physiol, D-72076 Tubingen, Germany
Wagner, CA
;
Lang, F
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Tubingen, Inst Physiol, D-72076 Tubingen, Germany
Lang, F
;
Bröer, S
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Tubingen, Inst Physiol, D-72076 Tubingen, Germany
Bröer, S
.
BIOCHEMICAL JOURNAL,
2000,
349
:787
-795
[3]
Growth hormone deficiency in a patient with lysinuric protein intolerance
[J].
Esposito, Valentina
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Naples Federico II, Dept Pediat, I-80131 Naples, Italy
Univ Naples Federico II, Dept Pediat, I-80131 Naples, Italy
Esposito, Valentina
;
Lettiero, Teresa
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Naples Federico II, Dept Pediat, I-80131 Naples, Italy
Univ Naples Federico II, Dept Pediat, I-80131 Naples, Italy
Lettiero, Teresa
;
论文数:
引用数:
h-index:
机构:
Fecarotta, Simona
;
Sebastio, Gianfranco
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Naples Federico II, Dept Pediat, I-80131 Naples, Italy
Univ Naples Federico II, Dept Pediat, I-80131 Naples, Italy
Sebastio, Gianfranco
;
论文数:
引用数:
h-index:
机构:
Parenti, Giancarlo
;
论文数:
引用数:
h-index:
机构:
Salerno, Mariacarolina
.
EUROPEAN JOURNAL OF PEDIATRICS,
2006,
165
(11)
:763
-766
[4]
PLASMA GROWTH HORMONE RESPONSE TO INTRAVENOUS ADMINISTRATION OF AMINO ACIDS
[J].
KNOPF, RF
论文数:
0
引用数:
0
h-index:
0
KNOPF, RF
;
CONN, JW
论文数:
0
引用数:
0
h-index:
0
CONN, JW
;
FAJANS, SS
论文数:
0
引用数:
0
h-index:
0
FAJANS, SS
;
FLOYD, JC
论文数:
0
引用数:
0
h-index:
0
FLOYD, JC
;
GUNTSCHE, EM
论文数:
0
引用数:
0
h-index:
0
GUNTSCHE, EM
;
RULL, JA
论文数:
0
引用数:
0
h-index:
0
RULL, JA
.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
1965,
25
(08)
:1140
-+
[5]
MILNE M. D., 1964, BRIT MED JOUR, V5379, P327
[6]
Lysinuric protein intolerance:: mechanisms of pathophysiology
[J].
论文数:
引用数:
h-index:
机构:
Palacín, M
;
论文数:
引用数:
h-index:
机构:
Bertran, J
;
Chillarón, J
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Barcelona, Fac Biol, Dept Biochem & Mol Biol, E-08028 Barcelona, Spain
Univ Barcelona, Fac Biol, Dept Biochem & Mol Biol, E-08028 Barcelona, Spain
Chillarón, J
;
Estévez, R
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Barcelona, Fac Biol, Dept Biochem & Mol Biol, E-08028 Barcelona, Spain
Univ Barcelona, Fac Biol, Dept Biochem & Mol Biol, E-08028 Barcelona, Spain
Estévez, R
;
Zorzano, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Barcelona, Fac Biol, Dept Biochem & Mol Biol, E-08028 Barcelona, Spain
Univ Barcelona, Fac Biol, Dept Biochem & Mol Biol, E-08028 Barcelona, Spain
Zorzano, A
.
MOLECULAR GENETICS AND METABOLISM,
2004,
81
:S27
-S37
[7]
Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family
[J].
论文数:
引用数:
h-index:
机构:
Pfeiffer, R
;
Rossier, G
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Zurich, Inst Physiol, CH-8057 Zurich, Switzerland
Rossier, G
;
Spindler, B
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Zurich, Inst Physiol, CH-8057 Zurich, Switzerland
Spindler, B
;
Meier, C
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Zurich, Inst Physiol, CH-8057 Zurich, Switzerland
Meier, C
;
Kühn, L
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Zurich, Inst Physiol, CH-8057 Zurich, Switzerland
Kühn, L
;
论文数:
引用数:
h-index:
机构:
Verrey, F
.
EMBO JOURNAL,
1999,
18
(01)
:49
-57
[8]
RAJANTIE J, 1980, LANCET, V1, P1219
[9]
INTESTINAL-ABSORPTION IN LYSINURIC PROTEIN INTOLERANCE - IMPAIRED FOR DIAMINO ACIDS, NORMAL FOR CITRULLINE
[J].
RAJANTIE, J
论文数:
0
引用数:
0
h-index:
0
RAJANTIE, J
;
SIMELL, O
论文数:
0
引用数:
0
h-index:
0
SIMELL, O
;
PERHEENTUPA, J
论文数:
0
引用数:
0
h-index:
0
PERHEENTUPA, J
.
GUT,
1980,
21
(06)
:519
-524
[10]
ROTOLI BM, IN PRESS AM J RESP C
←
1
2
3
→