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Different outcome in isovaleric acidemia might be related to unsatisfactory diet compliance
被引:4
作者
:
Castorina, Mario
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Dept Pediat Sci, IT-00168 Rome, Italy
Univ Cattolica Sacro Cuore, Dept Pediat Sci, IT-00168 Rome, Italy
Castorina, Mario
[
1
]
Rigante, Donato
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Dept Pediat Sci, IT-00168 Rome, Italy
Univ Cattolica Sacro Cuore, Dept Pediat Sci, IT-00168 Rome, Italy
Rigante, Donato
[
1
]
Antuzzi, Daniela
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Dept Pediat Sci, IT-00168 Rome, Italy
Univ Cattolica Sacro Cuore, Dept Pediat Sci, IT-00168 Rome, Italy
Antuzzi, Daniela
[
1
]
Cannizzaro, Giada Sciascia
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Dept Pediat Sci, IT-00168 Rome, Italy
Univ Cattolica Sacro Cuore, Dept Pediat Sci, IT-00168 Rome, Italy
Cannizzaro, Giada Sciascia
[
1
]
Ricci, Roberta
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Dept Pediat Sci, IT-00168 Rome, Italy
Univ Cattolica Sacro Cuore, Dept Pediat Sci, IT-00168 Rome, Italy
Ricci, Roberta
[
1
]
机构
:
[1]
Univ Cattolica Sacro Cuore, Dept Pediat Sci, IT-00168 Rome, Italy
来源
:
SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY
|
2008年
/ 43卷
/ 06期
关键词
:
D O I
:
10.1080/00365520801912128
中图分类号
:
R57 [消化系及腹部疾病];
学科分类号
:
摘要
:
引用
收藏
页码:767 / 768
页数:2
相关论文
共 5 条
[1]
ISOVALERIC ACIDEMIA - USE OF GLYCINE THERAPY IN NEONATES
[J].
COHN, RM
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP, DIV BIOCHEM DEV & MOLEC DIS, PHILADELPHIA, PA 19104 USA
COHN, RM
;
YUDKOFF, M
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YUDKOFF, M
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ROTHMAN, R
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引用数:
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CHILDRENS HOSP, DIV BIOCHEM DEV & MOLEC DIS, PHILADELPHIA, PA 19104 USA
ROTHMAN, R
;
SEGAL, S
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h-index:
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CHILDRENS HOSP, DIV BIOCHEM DEV & MOLEC DIS, PHILADELPHIA, PA 19104 USA
SEGAL, S
.
NEW ENGLAND JOURNAL OF MEDICINE,
1978,
299
(18)
:996
-999
[2]
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening
[J].
Ensenauer, R
论文数:
0
引用数:
0
h-index:
0
机构:
Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
Ensenauer, R
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Vockley, J
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Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
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Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
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Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
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Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
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引用数:
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Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
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Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
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Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
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The aetiology of neurological complications of organic acidaemias -: A role for the blood-brain barrier
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JOURNAL OF INHERITED METABOLIC DISEASE,
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Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity
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Univ Pittsburgh, Childrens Hosp Pittsburgh, Sch Med, Dept Pediat, Pittsburgh, PA 15238 USA
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←
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共 5 条
[1]
ISOVALERIC ACIDEMIA - USE OF GLYCINE THERAPY IN NEONATES
[J].
COHN, RM
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP, DIV BIOCHEM DEV & MOLEC DIS, PHILADELPHIA, PA 19104 USA
COHN, RM
;
YUDKOFF, M
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP, DIV BIOCHEM DEV & MOLEC DIS, PHILADELPHIA, PA 19104 USA
YUDKOFF, M
;
ROTHMAN, R
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP, DIV BIOCHEM DEV & MOLEC DIS, PHILADELPHIA, PA 19104 USA
ROTHMAN, R
;
SEGAL, S
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP, DIV BIOCHEM DEV & MOLEC DIS, PHILADELPHIA, PA 19104 USA
SEGAL, S
.
NEW ENGLAND JOURNAL OF MEDICINE,
1978,
299
(18)
:996
-999
[2]
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening
[J].
Ensenauer, R
论文数:
0
引用数:
0
h-index:
0
机构:
Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
Ensenauer, R
;
Vockley, J
论文数:
0
引用数:
0
h-index:
0
机构:
Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
Vockley, J
;
Willard, JM
论文数:
0
引用数:
0
h-index:
0
机构:
Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
Willard, JM
;
Huey, JC
论文数:
0
引用数:
0
h-index:
0
机构:
Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
Huey, JC
;
Sass, JO
论文数:
0
引用数:
0
h-index:
0
机构:
Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
Sass, JO
;
Edland, SD
论文数:
0
引用数:
0
h-index:
0
机构:
Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
Edland, SD
;
Burton, BK
论文数:
0
引用数:
0
h-index:
0
机构:
Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
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;
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论文数:
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h-index:
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机构:
Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
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Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
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;
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0
引用数:
0
h-index:
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机构:
Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
Grünert, S
;
Koch, HG
论文数:
0
引用数:
0
h-index:
0
机构:
Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
Koch, HG
;
Marquardt, I
论文数:
0
引用数:
0
h-index:
0
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Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
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;
Rinaldo, P
论文数:
0
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h-index:
0
机构:
Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
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;
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论文数:
0
引用数:
0
h-index:
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Hahn, S
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论文数:
0
引用数:
0
h-index:
0
机构:
Mayo Clin & Mayo Fdn, Coll Med, Biochem Genet Lab, Dept Lab Med & Pathol, Rochester, MN 55905 USA
Matern, D
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2004,
75
(06)
:1136
-1142
[3]
KALHER SG, 1994, J PEDIATR, V124, P239
[4]
The aetiology of neurological complications of organic acidaemias -: A role for the blood-brain barrier
[J].
Koelker, S.
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Biochem Endocrinol & Metab Unit, London, England
Koelker, S.
;
Sauer, S. W.
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Biochem Endocrinol & Metab Unit, London, England
Sauer, S. W.
;
Surtees, R. A. H.
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Biochem Endocrinol & Metab Unit, London, England
Surtees, R. A. H.
;
Leonard, J. V.
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Biochem Endocrinol & Metab Unit, London, England
Leonard, J. V.
.
JOURNAL OF INHERITED METABOLIC DISEASE,
2006,
29
(06)
:701
-704
[5]
Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity
[J].
Vockley, J
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Pittsburgh, Childrens Hosp Pittsburgh, Sch Med, Dept Pediat, Pittsburgh, PA 15238 USA
Vockley, J
;
Ensenauer, R
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Pittsburgh, Childrens Hosp Pittsburgh, Sch Med, Dept Pediat, Pittsburgh, PA 15238 USA
Ensenauer, R
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS,
2006,
142C
(02)
:95
-103
←
1
→