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Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I
被引:16
作者
:
André, N
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Enfants La Timone, Multidisciplinary Pediat Dept, F-13885 Marseille 5, France
André, N
Roquelaure, B
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Enfants La Timone, Multidisciplinary Pediat Dept, F-13885 Marseille 5, France
Roquelaure, B
Jubin, V
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Enfants La Timone, Multidisciplinary Pediat Dept, F-13885 Marseille 5, France
Jubin, V
Ovaert, C
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Enfants La Timone, Multidisciplinary Pediat Dept, F-13885 Marseille 5, France
Ovaert, C
机构
:
[1]
Hop Enfants La Timone, Multidisciplinary Pediat Dept, F-13885 Marseille 5, France
[2]
Hop Enfants La Timone, Dept Pediat Oncol, F-13885 Marseille, France
[3]
Hop Enfants La Timone, Dept Pediat Cardiol, F-13885 Marseille 5, France
来源
:
JOURNAL OF INHERITED METABOLIC DISEASE
|
2005年
/ 28卷
/ 01期
关键词
:
D O I
:
10.1007/s10545-005-5085-4
中图分类号
:
R5 [内科学];
学科分类号
:
1002 ;
100201 ;
摘要
:
We report the case of a child who developed severe obstructive hypertrophic cardiomyopathy revealing hereditary tyrosinaemia type 1, who was successfully treated with NTBC. The mechanisms underlying the association are discussed.
引用
收藏
页码:103 / 106
页数:4
相关论文
共 8 条
[1]
BIOCHEMICAL-STUDIES ON THE ENZYMATIC DEFICIENCIES IN HEREDITARY TYROSINEMIA
[J].
BERGER, R
论文数:
0
引用数:
0
h-index:
0
机构:
STATE UNIV GRONINGEN,SCH MED,DEPT PEDIAT,9700 AB GRONINGEN,NETHERLANDS
STATE UNIV GRONINGEN,SCH MED,DEPT PEDIAT,9700 AB GRONINGEN,NETHERLANDS
BERGER, R
;
VANFAASSEN, H
论文数:
0
引用数:
0
h-index:
0
机构:
STATE UNIV GRONINGEN,SCH MED,DEPT PEDIAT,9700 AB GRONINGEN,NETHERLANDS
STATE UNIV GRONINGEN,SCH MED,DEPT PEDIAT,9700 AB GRONINGEN,NETHERLANDS
VANFAASSEN, H
;
SMITH, GPA
论文数:
0
引用数:
0
h-index:
0
机构:
STATE UNIV GRONINGEN,SCH MED,DEPT PEDIAT,9700 AB GRONINGEN,NETHERLANDS
STATE UNIV GRONINGEN,SCH MED,DEPT PEDIAT,9700 AB GRONINGEN,NETHERLANDS
SMITH, GPA
.
CLINICA CHIMICA ACTA,
1983,
134
(1-2)
:129
-141
[2]
EDWARDS MA, 1987, LANCET, V1, P1437
[3]
Hemodynamic effects of 5-aminolevulinic acid in humans
[J].
Herman, MA
论文数:
0
引用数:
0
h-index:
0
机构:
Wayne State Univ, Univ Hlth Ctr 6C, Dept Surg, Detroit, MI 48201 USA
Herman, MA
;
Webber, J
论文数:
0
引用数:
0
h-index:
0
机构:
Wayne State Univ, Univ Hlth Ctr 6C, Dept Surg, Detroit, MI 48201 USA
Webber, J
;
Fromm, D
论文数:
0
引用数:
0
h-index:
0
机构:
Wayne State Univ, Univ Hlth Ctr 6C, Dept Surg, Detroit, MI 48201 USA
Fromm, D
;
Kessel, D
论文数:
0
引用数:
0
h-index:
0
机构:
Wayne State Univ, Univ Hlth Ctr 6C, Dept Surg, Detroit, MI 48201 USA
Kessel, D
.
JOURNAL OF PHOTOCHEMISTRY AND PHOTOBIOLOGY B-BIOLOGY,
1998,
43
(01)
:61
-65
[4]
DAMAGE TO RAT-LIVER MITOCHONDRIA PROMOTED BY DELTA-AMINOLEVULINIC ACID-GENERATED REACTIVE OXYGEN SPECIES - CONNECTIONS WITH ACUTE INTERMITTENT PORPHYRIA AND LEAD-POISONING
[J].
HERMESLIMA, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV SAO PAULO, INST QUIM, DEPT BIOQUIM, CP 20780, BR-01498 SAO PAULO, BRAZIL
HERMESLIMA, M
;
VALLE, VGR
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV SAO PAULO, INST QUIM, DEPT BIOQUIM, CP 20780, BR-01498 SAO PAULO, BRAZIL
VALLE, VGR
;
VERCESI, AE
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV SAO PAULO, INST QUIM, DEPT BIOQUIM, CP 20780, BR-01498 SAO PAULO, BRAZIL
VERCESI, AE
;
BECHARA, EJH
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV SAO PAULO, INST QUIM, DEPT BIOQUIM, CP 20780, BR-01498 SAO PAULO, BRAZIL
BECHARA, EJH
.
BIOCHIMICA ET BIOPHYSICA ACTA,
1991,
1056
(01)
:57
-63
[5]
Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione)
[J].
Holme, E
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Gothenburg, Sahlgrenska Univ Hosp, Dept Clin Chem, Gothenburg, Sweden
Univ Gothenburg, Sahlgrenska Univ Hosp, Dept Clin Chem, Gothenburg, Sweden
Holme, E
;
Lindstedt, S
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Gothenburg, Sahlgrenska Univ Hosp, Dept Clin Chem, Gothenburg, Sweden
Univ Gothenburg, Sahlgrenska Univ Hosp, Dept Clin Chem, Gothenburg, Sweden
Lindstedt, S
.
JOURNAL OF INHERITED METABOLIC DISEASE,
1998,
21
(05)
:507
-517
[6]
CHANGES OF MYOCARDIAL FUNCTIONS IN ACUTE HEPATIC PORPHYRIAS - ROLE OF HEME ARGINATE ADMINISTRATION
[J].
KORDAC, V
论文数:
0
引用数:
0
h-index:
0
KORDAC, V
;
KOZAKOVA, M
论文数:
0
引用数:
0
h-index:
0
KOZAKOVA, M
;
MARTASEK, P
论文数:
0
引用数:
0
h-index:
0
MARTASEK, P
.
ANNALS OF MEDICINE,
1989,
21
(04)
:273
-276
[7]
CARDIOMYOPATHY IN FUMARYLACETOACETASE DEFICIENCY (HEREDITARY TYROSINEMIA) - A NEW FEATURE OF THE DISEASE
[J].
LINDBLAD, B
论文数:
0
引用数:
0
h-index:
0
机构:
GOTHENBURG UNIV,SAHLGRENS HOSP,DEPT CLIN CHEM,S-41345 GOTHENBURG,SWEDEN
LINDBLAD, B
;
FALLSTROM, SP
论文数:
0
引用数:
0
h-index:
0
机构:
GOTHENBURG UNIV,SAHLGRENS HOSP,DEPT CLIN CHEM,S-41345 GOTHENBURG,SWEDEN
FALLSTROM, SP
;
HOYER, S
论文数:
0
引用数:
0
h-index:
0
机构:
GOTHENBURG UNIV,SAHLGRENS HOSP,DEPT CLIN CHEM,S-41345 GOTHENBURG,SWEDEN
HOYER, S
;
NORDBORG, C
论文数:
0
引用数:
0
h-index:
0
机构:
GOTHENBURG UNIV,SAHLGRENS HOSP,DEPT CLIN CHEM,S-41345 GOTHENBURG,SWEDEN
NORDBORG, C
;
SOLYMAR, L
论文数:
0
引用数:
0
h-index:
0
机构:
GOTHENBURG UNIV,SAHLGRENS HOSP,DEPT CLIN CHEM,S-41345 GOTHENBURG,SWEDEN
SOLYMAR, L
;
VELANDER, H
论文数:
0
引用数:
0
h-index:
0
机构:
GOTHENBURG UNIV,SAHLGRENS HOSP,DEPT CLIN CHEM,S-41345 GOTHENBURG,SWEDEN
VELANDER, H
.
JOURNAL OF INHERITED METABOLIC DISEASE,
1987,
10
:319
-322
[8]
Indications and outcome of liver transplantation in tyrosinaemia type 1
[J].
Mohan, N
论文数:
0
引用数:
0
h-index:
0
机构:
Birmingham Childrens Hosp NHS trust, Liver Unit, Birmingham B4 6NH, W Midlands, England
Mohan, N
;
McKiernan, P
论文数:
0
引用数:
0
h-index:
0
机构:
Birmingham Childrens Hosp NHS trust, Liver Unit, Birmingham B4 6NH, W Midlands, England
McKiernan, P
;
Preece, MA
论文数:
0
引用数:
0
h-index:
0
机构:
Birmingham Childrens Hosp NHS trust, Liver Unit, Birmingham B4 6NH, W Midlands, England
Preece, MA
;
Green, A
论文数:
0
引用数:
0
h-index:
0
机构:
Birmingham Childrens Hosp NHS trust, Liver Unit, Birmingham B4 6NH, W Midlands, England
Green, A
;
Buckels, J
论文数:
0
引用数:
0
h-index:
0
机构:
Birmingham Childrens Hosp NHS trust, Liver Unit, Birmingham B4 6NH, W Midlands, England
Buckels, J
;
Mayer, AD
论文数:
0
引用数:
0
h-index:
0
机构:
Birmingham Childrens Hosp NHS trust, Liver Unit, Birmingham B4 6NH, W Midlands, England
Mayer, AD
;
Kelly, DA
论文数:
0
引用数:
0
h-index:
0
机构:
Birmingham Childrens Hosp NHS trust, Liver Unit, Birmingham B4 6NH, W Midlands, England
Kelly, DA
.
EUROPEAN JOURNAL OF PEDIATRICS,
1999,
158
(Suppl 2)
:S49
-S54
←
1
→
共 8 条
[1]
BIOCHEMICAL-STUDIES ON THE ENZYMATIC DEFICIENCIES IN HEREDITARY TYROSINEMIA
[J].
BERGER, R
论文数:
0
引用数:
0
h-index:
0
机构:
STATE UNIV GRONINGEN,SCH MED,DEPT PEDIAT,9700 AB GRONINGEN,NETHERLANDS
STATE UNIV GRONINGEN,SCH MED,DEPT PEDIAT,9700 AB GRONINGEN,NETHERLANDS
BERGER, R
;
VANFAASSEN, H
论文数:
0
引用数:
0
h-index:
0
机构:
STATE UNIV GRONINGEN,SCH MED,DEPT PEDIAT,9700 AB GRONINGEN,NETHERLANDS
STATE UNIV GRONINGEN,SCH MED,DEPT PEDIAT,9700 AB GRONINGEN,NETHERLANDS
VANFAASSEN, H
;
SMITH, GPA
论文数:
0
引用数:
0
h-index:
0
机构:
STATE UNIV GRONINGEN,SCH MED,DEPT PEDIAT,9700 AB GRONINGEN,NETHERLANDS
STATE UNIV GRONINGEN,SCH MED,DEPT PEDIAT,9700 AB GRONINGEN,NETHERLANDS
SMITH, GPA
.
CLINICA CHIMICA ACTA,
1983,
134
(1-2)
:129
-141
[2]
EDWARDS MA, 1987, LANCET, V1, P1437
[3]
Hemodynamic effects of 5-aminolevulinic acid in humans
[J].
Herman, MA
论文数:
0
引用数:
0
h-index:
0
机构:
Wayne State Univ, Univ Hlth Ctr 6C, Dept Surg, Detroit, MI 48201 USA
Herman, MA
;
Webber, J
论文数:
0
引用数:
0
h-index:
0
机构:
Wayne State Univ, Univ Hlth Ctr 6C, Dept Surg, Detroit, MI 48201 USA
Webber, J
;
Fromm, D
论文数:
0
引用数:
0
h-index:
0
机构:
Wayne State Univ, Univ Hlth Ctr 6C, Dept Surg, Detroit, MI 48201 USA
Fromm, D
;
Kessel, D
论文数:
0
引用数:
0
h-index:
0
机构:
Wayne State Univ, Univ Hlth Ctr 6C, Dept Surg, Detroit, MI 48201 USA
Kessel, D
.
JOURNAL OF PHOTOCHEMISTRY AND PHOTOBIOLOGY B-BIOLOGY,
1998,
43
(01)
:61
-65
[4]
DAMAGE TO RAT-LIVER MITOCHONDRIA PROMOTED BY DELTA-AMINOLEVULINIC ACID-GENERATED REACTIVE OXYGEN SPECIES - CONNECTIONS WITH ACUTE INTERMITTENT PORPHYRIA AND LEAD-POISONING
[J].
HERMESLIMA, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV SAO PAULO, INST QUIM, DEPT BIOQUIM, CP 20780, BR-01498 SAO PAULO, BRAZIL
HERMESLIMA, M
;
VALLE, VGR
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV SAO PAULO, INST QUIM, DEPT BIOQUIM, CP 20780, BR-01498 SAO PAULO, BRAZIL
VALLE, VGR
;
VERCESI, AE
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV SAO PAULO, INST QUIM, DEPT BIOQUIM, CP 20780, BR-01498 SAO PAULO, BRAZIL
VERCESI, AE
;
BECHARA, EJH
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV SAO PAULO, INST QUIM, DEPT BIOQUIM, CP 20780, BR-01498 SAO PAULO, BRAZIL
BECHARA, EJH
.
BIOCHIMICA ET BIOPHYSICA ACTA,
1991,
1056
(01)
:57
-63
[5]
Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione)
[J].
Holme, E
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Gothenburg, Sahlgrenska Univ Hosp, Dept Clin Chem, Gothenburg, Sweden
Univ Gothenburg, Sahlgrenska Univ Hosp, Dept Clin Chem, Gothenburg, Sweden
Holme, E
;
Lindstedt, S
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Gothenburg, Sahlgrenska Univ Hosp, Dept Clin Chem, Gothenburg, Sweden
Univ Gothenburg, Sahlgrenska Univ Hosp, Dept Clin Chem, Gothenburg, Sweden
Lindstedt, S
.
JOURNAL OF INHERITED METABOLIC DISEASE,
1998,
21
(05)
:507
-517
[6]
CHANGES OF MYOCARDIAL FUNCTIONS IN ACUTE HEPATIC PORPHYRIAS - ROLE OF HEME ARGINATE ADMINISTRATION
[J].
KORDAC, V
论文数:
0
引用数:
0
h-index:
0
KORDAC, V
;
KOZAKOVA, M
论文数:
0
引用数:
0
h-index:
0
KOZAKOVA, M
;
MARTASEK, P
论文数:
0
引用数:
0
h-index:
0
MARTASEK, P
.
ANNALS OF MEDICINE,
1989,
21
(04)
:273
-276
[7]
CARDIOMYOPATHY IN FUMARYLACETOACETASE DEFICIENCY (HEREDITARY TYROSINEMIA) - A NEW FEATURE OF THE DISEASE
[J].
LINDBLAD, B
论文数:
0
引用数:
0
h-index:
0
机构:
GOTHENBURG UNIV,SAHLGRENS HOSP,DEPT CLIN CHEM,S-41345 GOTHENBURG,SWEDEN
LINDBLAD, B
;
FALLSTROM, SP
论文数:
0
引用数:
0
h-index:
0
机构:
GOTHENBURG UNIV,SAHLGRENS HOSP,DEPT CLIN CHEM,S-41345 GOTHENBURG,SWEDEN
FALLSTROM, SP
;
HOYER, S
论文数:
0
引用数:
0
h-index:
0
机构:
GOTHENBURG UNIV,SAHLGRENS HOSP,DEPT CLIN CHEM,S-41345 GOTHENBURG,SWEDEN
HOYER, S
;
NORDBORG, C
论文数:
0
引用数:
0
h-index:
0
机构:
GOTHENBURG UNIV,SAHLGRENS HOSP,DEPT CLIN CHEM,S-41345 GOTHENBURG,SWEDEN
NORDBORG, C
;
SOLYMAR, L
论文数:
0
引用数:
0
h-index:
0
机构:
GOTHENBURG UNIV,SAHLGRENS HOSP,DEPT CLIN CHEM,S-41345 GOTHENBURG,SWEDEN
SOLYMAR, L
;
VELANDER, H
论文数:
0
引用数:
0
h-index:
0
机构:
GOTHENBURG UNIV,SAHLGRENS HOSP,DEPT CLIN CHEM,S-41345 GOTHENBURG,SWEDEN
VELANDER, H
.
JOURNAL OF INHERITED METABOLIC DISEASE,
1987,
10
:319
-322
[8]
Indications and outcome of liver transplantation in tyrosinaemia type 1
[J].
Mohan, N
论文数:
0
引用数:
0
h-index:
0
机构:
Birmingham Childrens Hosp NHS trust, Liver Unit, Birmingham B4 6NH, W Midlands, England
Mohan, N
;
McKiernan, P
论文数:
0
引用数:
0
h-index:
0
机构:
Birmingham Childrens Hosp NHS trust, Liver Unit, Birmingham B4 6NH, W Midlands, England
McKiernan, P
;
Preece, MA
论文数:
0
引用数:
0
h-index:
0
机构:
Birmingham Childrens Hosp NHS trust, Liver Unit, Birmingham B4 6NH, W Midlands, England
Preece, MA
;
Green, A
论文数:
0
引用数:
0
h-index:
0
机构:
Birmingham Childrens Hosp NHS trust, Liver Unit, Birmingham B4 6NH, W Midlands, England
Green, A
;
Buckels, J
论文数:
0
引用数:
0
h-index:
0
机构:
Birmingham Childrens Hosp NHS trust, Liver Unit, Birmingham B4 6NH, W Midlands, England
Buckels, J
;
Mayer, AD
论文数:
0
引用数:
0
h-index:
0
机构:
Birmingham Childrens Hosp NHS trust, Liver Unit, Birmingham B4 6NH, W Midlands, England
Mayer, AD
;
Kelly, DA
论文数:
0
引用数:
0
h-index:
0
机构:
Birmingham Childrens Hosp NHS trust, Liver Unit, Birmingham B4 6NH, W Midlands, England
Kelly, DA
.
EUROPEAN JOURNAL OF PEDIATRICS,
1999,
158
(Suppl 2)
:S49
-S54
←
1
→