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Carnitine-acylcarnitine translocase deficiency is a treatable disease
被引:10
作者
:
Al Aqeel, AI
论文数:
0
引用数:
0
h-index:
0
机构:
Riyadh Armed Forces Hosp, Dept Paediat, Riyadh 11159, Saudi Arabia
Al Aqeel, AI
Rashed, MS
论文数:
0
引用数:
0
h-index:
0
机构:
Riyadh Armed Forces Hosp, Dept Paediat, Riyadh 11159, Saudi Arabia
Rashed, MS
Wanders, RJA
论文数:
0
引用数:
0
h-index:
0
机构:
Riyadh Armed Forces Hosp, Dept Paediat, Riyadh 11159, Saudi Arabia
Wanders, RJA
机构
:
[1]
Riyadh Armed Forces Hosp, Dept Paediat, Riyadh 11159, Saudi Arabia
[2]
King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia
[3]
Univ Amsterdam, Lab Genet Metab Dis, Amsterdam, Netherlands
来源
:
JOURNAL OF INHERITED METABOLIC DISEASE
|
1999年
/ 22卷
/ 03期
关键词
:
D O I
:
10.1023/A:1005546408659
中图分类号
:
R5 [内科学];
学科分类号
:
1002 ;
100201 ;
摘要
:
引用
收藏
页码:271 / 275
页数:5
相关论文
共 6 条
[1]
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents
[J].
Brivet, M
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Brivet, M
;
Slama, A
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Slama, A
;
Millington, DS
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Millington, DS
;
Roe, CR
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Roe, CR
;
Demaugre, F
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Demaugre, F
;
Legrand, A
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Legrand, A
;
Boutron, A
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Boutron, A
;
Poggi, F
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Poggi, F
;
Saudubray, JM
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Saudubray, JM
.
JOURNAL OF INHERITED METABOLIC DISEASE,
1996,
19
(02)
:181
-184
[2]
Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death
[J].
Chalmers, RA
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP PHILADELPHIA, DIV ENDOCRINOL & DIABET, PHILADELPHIA, PA 19104 USA
Chalmers, RA
;
Stanley, CA
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP PHILADELPHIA, DIV ENDOCRINOL & DIABET, PHILADELPHIA, PA 19104 USA
Stanley, CA
;
English, N
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP PHILADELPHIA, DIV ENDOCRINOL & DIABET, PHILADELPHIA, PA 19104 USA
English, N
;
Wigglesworth, JS
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP PHILADELPHIA, DIV ENDOCRINOL & DIABET, PHILADELPHIA, PA 19104 USA
Wigglesworth, JS
.
JOURNAL OF PEDIATRICS,
1997,
131
(02)
:220
-225
[3]
NEONATAL HYPERAMMONEMIA CAUSED BY A DEFECT OF CARNITINE-ACYLCARNITINE TRANSLOCASE
[J].
DEBAULNY, HO
论文数:
0
引用数:
0
h-index:
0
机构:
MED SCH NEWCASTLE UPON TYNE, DEPT CLIN NEUROSCI & CHILD HLTH, NEWCASTLE UPON TYNE, TYNE & WEAR, ENGLAND
DEBAULNY, HO
;
SLAMA, A
论文数:
0
引用数:
0
h-index:
0
机构:
MED SCH NEWCASTLE UPON TYNE, DEPT CLIN NEUROSCI & CHILD HLTH, NEWCASTLE UPON TYNE, TYNE & WEAR, ENGLAND
SLAMA, A
;
TOUATI, G
论文数:
0
引用数:
0
h-index:
0
机构:
MED SCH NEWCASTLE UPON TYNE, DEPT CLIN NEUROSCI & CHILD HLTH, NEWCASTLE UPON TYNE, TYNE & WEAR, ENGLAND
TOUATI, G
;
TURNBULL, DM
论文数:
0
引用数:
0
h-index:
0
机构:
MED SCH NEWCASTLE UPON TYNE, DEPT CLIN NEUROSCI & CHILD HLTH, NEWCASTLE UPON TYNE, TYNE & WEAR, ENGLAND
TURNBULL, DM
;
POURFARZAM, M
论文数:
0
引用数:
0
h-index:
0
机构:
MED SCH NEWCASTLE UPON TYNE, DEPT CLIN NEUROSCI & CHILD HLTH, NEWCASTLE UPON TYNE, TYNE & WEAR, ENGLAND
POURFARZAM, M
;
BRIVET, M
论文数:
0
引用数:
0
h-index:
0
机构:
MED SCH NEWCASTLE UPON TYNE, DEPT CLIN NEUROSCI & CHILD HLTH, NEWCASTLE UPON TYNE, TYNE & WEAR, ENGLAND
BRIVET, M
.
JOURNAL OF PEDIATRICS,
1995,
127
(05)
:723
-728
[4]
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY WITH SEVERE HYPOGLYCEMIA AND ATRIOVENTRICULAR-BLOCK - TRANSLOCASE ASSAY IN PERMEABILIZED FIBROBLASTS
[J].
PANDE, SV
论文数:
0
引用数:
0
h-index:
0
机构:
CHU BICETRE, BIOCHIM LAB, F-94270 LE KREMLIN BICETRE, FRANCE
PANDE, SV
;
BRIVET, M
论文数:
0
引用数:
0
h-index:
0
机构:
CHU BICETRE, BIOCHIM LAB, F-94270 LE KREMLIN BICETRE, FRANCE
BRIVET, M
;
SLAMA, A
论文数:
0
引用数:
0
h-index:
0
机构:
CHU BICETRE, BIOCHIM LAB, F-94270 LE KREMLIN BICETRE, FRANCE
SLAMA, A
;
DEMAUGRE, F
论文数:
0
引用数:
0
h-index:
0
机构:
CHU BICETRE, BIOCHIM LAB, F-94270 LE KREMLIN BICETRE, FRANCE
DEMAUGRE, F
;
AUFRANT, C
论文数:
0
引用数:
0
h-index:
0
机构:
CHU BICETRE, BIOCHIM LAB, F-94270 LE KREMLIN BICETRE, FRANCE
AUFRANT, C
;
SAUDUBRAY, JM
论文数:
0
引用数:
0
h-index:
0
机构:
CHU BICETRE, BIOCHIM LAB, F-94270 LE KREMLIN BICETRE, FRANCE
SAUDUBRAY, JM
.
JOURNAL OF CLINICAL INVESTIGATION,
1993,
91
(03)
:1247
-1252
[5]
DIAGNOSIS OF INBORN-ERRORS OF METABOLISM FROM BLOOD SPOTS BY ACYLCARNITINES AND AMINO-ACIDS PROFILING USING AUTOMATED ELECTROSPRAY TANDEM MASS-SPECTROMETRY
[J].
RASHED, MS
论文数:
0
引用数:
0
h-index:
0
机构:
KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA
KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA
RASHED, MS
;
OZAND, PT
论文数:
0
引用数:
0
h-index:
0
机构:
KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA
KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA
OZAND, PT
;
BUCKNALL, MP
论文数:
0
引用数:
0
h-index:
0
机构:
KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA
KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA
BUCKNALL, MP
;
LITTLE, D
论文数:
0
引用数:
0
h-index:
0
机构:
KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA
KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA
LITTLE, D
.
PEDIATRIC RESEARCH,
1995,
38
(03)
:324
-331
[6]
Rashed MS, 1997, CLIN CHEM, V43, P1129
←
1
→
共 6 条
[1]
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents
[J].
Brivet, M
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Brivet, M
;
Slama, A
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Slama, A
;
Millington, DS
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Millington, DS
;
Roe, CR
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Roe, CR
;
Demaugre, F
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Demaugre, F
;
Legrand, A
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Legrand, A
;
Boutron, A
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Boutron, A
;
Poggi, F
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Poggi, F
;
Saudubray, JM
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INSERM U75,PARIS,FRANCE
Saudubray, JM
.
JOURNAL OF INHERITED METABOLIC DISEASE,
1996,
19
(02)
:181
-184
[2]
Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death
[J].
Chalmers, RA
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP PHILADELPHIA, DIV ENDOCRINOL & DIABET, PHILADELPHIA, PA 19104 USA
Chalmers, RA
;
Stanley, CA
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP PHILADELPHIA, DIV ENDOCRINOL & DIABET, PHILADELPHIA, PA 19104 USA
Stanley, CA
;
English, N
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP PHILADELPHIA, DIV ENDOCRINOL & DIABET, PHILADELPHIA, PA 19104 USA
English, N
;
Wigglesworth, JS
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP PHILADELPHIA, DIV ENDOCRINOL & DIABET, PHILADELPHIA, PA 19104 USA
Wigglesworth, JS
.
JOURNAL OF PEDIATRICS,
1997,
131
(02)
:220
-225
[3]
NEONATAL HYPERAMMONEMIA CAUSED BY A DEFECT OF CARNITINE-ACYLCARNITINE TRANSLOCASE
[J].
DEBAULNY, HO
论文数:
0
引用数:
0
h-index:
0
机构:
MED SCH NEWCASTLE UPON TYNE, DEPT CLIN NEUROSCI & CHILD HLTH, NEWCASTLE UPON TYNE, TYNE & WEAR, ENGLAND
DEBAULNY, HO
;
SLAMA, A
论文数:
0
引用数:
0
h-index:
0
机构:
MED SCH NEWCASTLE UPON TYNE, DEPT CLIN NEUROSCI & CHILD HLTH, NEWCASTLE UPON TYNE, TYNE & WEAR, ENGLAND
SLAMA, A
;
TOUATI, G
论文数:
0
引用数:
0
h-index:
0
机构:
MED SCH NEWCASTLE UPON TYNE, DEPT CLIN NEUROSCI & CHILD HLTH, NEWCASTLE UPON TYNE, TYNE & WEAR, ENGLAND
TOUATI, G
;
TURNBULL, DM
论文数:
0
引用数:
0
h-index:
0
机构:
MED SCH NEWCASTLE UPON TYNE, DEPT CLIN NEUROSCI & CHILD HLTH, NEWCASTLE UPON TYNE, TYNE & WEAR, ENGLAND
TURNBULL, DM
;
POURFARZAM, M
论文数:
0
引用数:
0
h-index:
0
机构:
MED SCH NEWCASTLE UPON TYNE, DEPT CLIN NEUROSCI & CHILD HLTH, NEWCASTLE UPON TYNE, TYNE & WEAR, ENGLAND
POURFARZAM, M
;
BRIVET, M
论文数:
0
引用数:
0
h-index:
0
机构:
MED SCH NEWCASTLE UPON TYNE, DEPT CLIN NEUROSCI & CHILD HLTH, NEWCASTLE UPON TYNE, TYNE & WEAR, ENGLAND
BRIVET, M
.
JOURNAL OF PEDIATRICS,
1995,
127
(05)
:723
-728
[4]
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY WITH SEVERE HYPOGLYCEMIA AND ATRIOVENTRICULAR-BLOCK - TRANSLOCASE ASSAY IN PERMEABILIZED FIBROBLASTS
[J].
PANDE, SV
论文数:
0
引用数:
0
h-index:
0
机构:
CHU BICETRE, BIOCHIM LAB, F-94270 LE KREMLIN BICETRE, FRANCE
PANDE, SV
;
BRIVET, M
论文数:
0
引用数:
0
h-index:
0
机构:
CHU BICETRE, BIOCHIM LAB, F-94270 LE KREMLIN BICETRE, FRANCE
BRIVET, M
;
SLAMA, A
论文数:
0
引用数:
0
h-index:
0
机构:
CHU BICETRE, BIOCHIM LAB, F-94270 LE KREMLIN BICETRE, FRANCE
SLAMA, A
;
DEMAUGRE, F
论文数:
0
引用数:
0
h-index:
0
机构:
CHU BICETRE, BIOCHIM LAB, F-94270 LE KREMLIN BICETRE, FRANCE
DEMAUGRE, F
;
AUFRANT, C
论文数:
0
引用数:
0
h-index:
0
机构:
CHU BICETRE, BIOCHIM LAB, F-94270 LE KREMLIN BICETRE, FRANCE
AUFRANT, C
;
SAUDUBRAY, JM
论文数:
0
引用数:
0
h-index:
0
机构:
CHU BICETRE, BIOCHIM LAB, F-94270 LE KREMLIN BICETRE, FRANCE
SAUDUBRAY, JM
.
JOURNAL OF CLINICAL INVESTIGATION,
1993,
91
(03)
:1247
-1252
[5]
DIAGNOSIS OF INBORN-ERRORS OF METABOLISM FROM BLOOD SPOTS BY ACYLCARNITINES AND AMINO-ACIDS PROFILING USING AUTOMATED ELECTROSPRAY TANDEM MASS-SPECTROMETRY
[J].
RASHED, MS
论文数:
0
引用数:
0
h-index:
0
机构:
KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA
KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA
RASHED, MS
;
OZAND, PT
论文数:
0
引用数:
0
h-index:
0
机构:
KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA
KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA
OZAND, PT
;
BUCKNALL, MP
论文数:
0
引用数:
0
h-index:
0
机构:
KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA
KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA
BUCKNALL, MP
;
LITTLE, D
论文数:
0
引用数:
0
h-index:
0
机构:
KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA
KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA
LITTLE, D
.
PEDIATRIC RESEARCH,
1995,
38
(03)
:324
-331
[6]
Rashed MS, 1997, CLIN CHEM, V43, P1129
←
1
→