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Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy
被引:14
作者
:
Diogo, L
论文数:
0
引用数:
0
h-index:
0
机构:
INST MED GENET,P-4000 OPORTO,PORTUGAL
INST MED GENET,P-4000 OPORTO,PORTUGAL
Diogo, L
[
1
]
Fineza, I
论文数:
0
引用数:
0
h-index:
0
机构:
INST MED GENET,P-4000 OPORTO,PORTUGAL
INST MED GENET,P-4000 OPORTO,PORTUGAL
Fineza, I
[
1
]
Canha, J
论文数:
0
引用数:
0
h-index:
0
机构:
INST MED GENET,P-4000 OPORTO,PORTUGAL
INST MED GENET,P-4000 OPORTO,PORTUGAL
Canha, J
[
1
]
Borges, L
论文数:
0
引用数:
0
h-index:
0
机构:
INST MED GENET,P-4000 OPORTO,PORTUGAL
INST MED GENET,P-4000 OPORTO,PORTUGAL
Borges, L
[
1
]
Cardoso, ML
论文数:
0
引用数:
0
h-index:
0
机构:
INST MED GENET,P-4000 OPORTO,PORTUGAL
INST MED GENET,P-4000 OPORTO,PORTUGAL
Cardoso, ML
[
1
]
Vilarinho, L
论文数:
0
引用数:
0
h-index:
0
机构:
INST MED GENET,P-4000 OPORTO,PORTUGAL
INST MED GENET,P-4000 OPORTO,PORTUGAL
Vilarinho, L
[
1
]
机构
:
[1]
INST MED GENET,P-4000 OPORTO,PORTUGAL
来源
:
JOURNAL OF INHERITED METABOLIC DISEASE
|
1996年
/ 19卷
/ 03期
关键词
:
D O I
:
10.1007/BF01799270
中图分类号
:
R5 [内科学];
学科分类号
:
1002 ;
100201 ;
摘要
:
[No abstract available]
引用
收藏
页码:369 / 370
页数:2
相关论文
共 3 条
[1]
L-2-HYDROXYGLUTARIC ACIDEMIA - CLINICAL AND BIOCHEMICAL FINDINGS IN 12 PATIENTS AND PRELIMINARY-REPORT ON L-2-HYDROXYACID DEHYDROGENASE
BARTH, PG
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
BARTH, PG
HOFFMANN, GF
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
HOFFMANN, GF
JAEKEN, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
JAEKEN, J
WANDERS, RJA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
WANDERS, RJA
DURAN, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
DURAN, M
JANSEN, GA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
JANSEN, GA
JAKOBS, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
JAKOBS, C
LEHNERT, W
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
LEHNERT, W
HANEFELD, F
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
HANEFELD, F
VALK, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
VALK, J
SCHUTGENS, RBH
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
SCHUTGENS, RBH
TREFZ, FK
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
TREFZ, FK
HARTUNG, HP
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
HARTUNG, HP
CHAMOLES, NA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
CHAMOLES, NA
SFAELLO, Z
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
SFAELLO, Z
CARUSO, U
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
CARUSO, U
[J].
JOURNAL OF INHERITED METABOLIC DISEASE,
1993,
16
(04)
: 753
-
761
[2]
L-2-HYDROXYGLUTARIC ACIDURIA - 2 FURTHER CASES
DIVRY, P
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
DIVRY, P
JAKOBS, C
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
JAKOBS, C
VIANEYSABAN, C
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
VIANEYSABAN, C
GIBSON, KM
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
GIBSON, KM
MICHELAKAKIS, H
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
MICHELAKAKIS, H
PAPADIMITRIOU, A
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
PAPADIMITRIOU, A
DIVARI, R
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
DIVARI, R
CHABROL, B
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
CHABROL, B
COURNELLE, MA
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
COURNELLE, MA
LIVET, MO
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
LIVET, MO
[J].
JOURNAL OF INHERITED METABOLIC DISEASE,
1993,
16
(03)
: 505
-
507
[3]
Duran M, 1980, J Inherit Metab Dis, V3, P109, DOI 10.1007/BF02312543
←
1
→
共 3 条
[1]
L-2-HYDROXYGLUTARIC ACIDEMIA - CLINICAL AND BIOCHEMICAL FINDINGS IN 12 PATIENTS AND PRELIMINARY-REPORT ON L-2-HYDROXYACID DEHYDROGENASE
BARTH, PG
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
BARTH, PG
HOFFMANN, GF
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
HOFFMANN, GF
JAEKEN, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
JAEKEN, J
WANDERS, RJA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
WANDERS, RJA
DURAN, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
DURAN, M
JANSEN, GA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
JANSEN, GA
JAKOBS, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
JAKOBS, C
LEHNERT, W
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
LEHNERT, W
HANEFELD, F
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
HANEFELD, F
VALK, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
VALK, J
SCHUTGENS, RBH
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
SCHUTGENS, RBH
TREFZ, FK
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
TREFZ, FK
HARTUNG, HP
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
HARTUNG, HP
CHAMOLES, NA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
CHAMOLES, NA
SFAELLO, Z
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
SFAELLO, Z
CARUSO, U
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP AMSTERDAM,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS
CARUSO, U
[J].
JOURNAL OF INHERITED METABOLIC DISEASE,
1993,
16
(04)
: 753
-
761
[2]
L-2-HYDROXYGLUTARIC ACIDURIA - 2 FURTHER CASES
DIVRY, P
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
DIVRY, P
JAKOBS, C
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
JAKOBS, C
VIANEYSABAN, C
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
VIANEYSABAN, C
GIBSON, KM
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
GIBSON, KM
MICHELAKAKIS, H
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
MICHELAKAKIS, H
PAPADIMITRIOU, A
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
PAPADIMITRIOU, A
DIVARI, R
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
DIVARI, R
CHABROL, B
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
CHABROL, B
COURNELLE, MA
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
COURNELLE, MA
LIVET, MO
论文数:
0
引用数:
0
h-index:
0
机构:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
LIVET, MO
[J].
JOURNAL OF INHERITED METABOLIC DISEASE,
1993,
16
(03)
: 505
-
507
[3]
Duran M, 1980, J Inherit Metab Dis, V3, P109, DOI 10.1007/BF02312543
←
1
→