首页
学术期刊
论文检测
AIGC检测
热点
更多
数据
HYPERPHENYLALANINEMIA DUE TO PHENYLALANINE HYDROXYLASE COFACTOR DEFICIENCY
被引:12
|
作者
:
MILSTIEN, S
论文数:
0
引用数:
0
h-index:
0
机构:
NIMH,BETHESDA,MD 20014
MILSTIEN, S
ORLOFF, S
论文数:
0
引用数:
0
h-index:
0
机构:
NIMH,BETHESDA,MD 20014
ORLOFF, S
SPIELBERG, S
论文数:
0
引用数:
0
h-index:
0
机构:
NIMH,BETHESDA,MD 20014
SPIELBERG, S
BERLOW, S
论文数:
0
引用数:
0
h-index:
0
机构:
NIMH,BETHESDA,MD 20014
BERLOW, S
SCHULMAN, JD
论文数:
0
引用数:
0
h-index:
0
机构:
NIMH,BETHESDA,MD 20014
SCHULMAN, JD
KAUFMAN, S
论文数:
0
引用数:
0
h-index:
0
机构:
NIMH,BETHESDA,MD 20014
KAUFMAN, S
机构
:
[1]
NIMH,BETHESDA,MD 20014
[2]
NICHHD,BETHESDA,MD 20014
[3]
UNIV WISCONSIN,WAISMAN CTR,MADISON,WI 53706
来源
:
PEDIATRIC RESEARCH
|
1977年
/ 11卷
/ 04期
关键词
:
D O I
:
10.1203/00006450-197704000-00542
中图分类号
:
R72 [儿科学];
学科分类号
:
100202 ;
摘要
:
引用
收藏
页码:460 / 460
页数:1
相关论文
共 50 条
[21]
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia
Bosco, P
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Ist Ricerca Ritardo Mentale & Involuz Cerebrale, OASI, Genet Mol Lab, I-94018 Troina, EN, Italy
Bosco, P
Cali, F
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Ist Ricerca Ritardo Mentale & Involuz Cerebrale, OASI, Genet Mol Lab, I-94018 Troina, EN, Italy
Cali, F
Meli, C
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Ist Ricerca Ritardo Mentale & Involuz Cerebrale, OASI, Genet Mol Lab, I-94018 Troina, EN, Italy
Meli, C
Mollica, F
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Ist Ricerca Ritardo Mentale & Involuz Cerebrale, OASI, Genet Mol Lab, I-94018 Troina, EN, Italy
Mollica, F
Zammarchi, E
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Ist Ricerca Ritardo Mentale & Involuz Cerebrale, OASI, Genet Mol Lab, I-94018 Troina, EN, Italy
Zammarchi, E
Cerone, R
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Ist Ricerca Ritardo Mentale & Involuz Cerebrale, OASI, Genet Mol Lab, I-94018 Troina, EN, Italy
Cerone, R
Vanni, C
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Ist Ricerca Ritardo Mentale & Involuz Cerebrale, OASI, Genet Mol Lab, I-94018 Troina, EN, Italy
Vanni, C
Palillo, L
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Ist Ricerca Ritardo Mentale & Involuz Cerebrale, OASI, Genet Mol Lab, I-94018 Troina, EN, Italy
Palillo, L
Greco, D
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Ist Ricerca Ritardo Mentale & Involuz Cerebrale, OASI, Genet Mol Lab, I-94018 Troina, EN, Italy
Greco, D
Romano, V
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Ist Ricerca Ritardo Mentale & Involuz Cerebrale, OASI, Genet Mol Lab, I-94018 Troina, EN, Italy
Romano, V
HUMAN MUTATION,
1998,
11
(03)
: 240
-
243
[22]
SEVERITY OF MUTATION IN THE PHENYLALANINE-HYDROXYLASE GENE INFLUENCES PHENYLALANINE METABOLISM IN PHENYLKETONURIA AND HYPERPHENYLALANINEMIA HETEROZYGOTES
SVENSSON, E
论文数:
0
引用数:
0
h-index:
0
机构:
HUDDINGE UNIV HOSP, DEPT CLIN CHEM, S-14186 HUDDINGE, SWEDEN
SVENSSON, E
ISELIUS, L
论文数:
0
引用数:
0
h-index:
0
机构:
HUDDINGE UNIV HOSP, DEPT CLIN CHEM, S-14186 HUDDINGE, SWEDEN
ISELIUS, L
HAGENFELDT, L
论文数:
0
引用数:
0
h-index:
0
机构:
HUDDINGE UNIV HOSP, DEPT CLIN CHEM, S-14186 HUDDINGE, SWEDEN
HAGENFELDT, L
JOURNAL OF INHERITED METABOLIC DISEASE,
1994,
17
(02)
: 215
-
222
[23]
FETAL MATURATION OF THE SYNTHESIS OF THE COFACTOR OF PHENYLALANINE-HYDROXYLASE
DHONDT, JL
论文数:
0
引用数:
0
h-index:
0
机构:
CHR LILLE,RECH PEDIAT LAB,F-59037 LILLE,FRANCE
CHR LILLE,RECH PEDIAT LAB,F-59037 LILLE,FRANCE
DHONDT, JL
FARRIAUX, JP
论文数:
0
引用数:
0
h-index:
0
机构:
CHR LILLE,RECH PEDIAT LAB,F-59037 LILLE,FRANCE
CHR LILLE,RECH PEDIAT LAB,F-59037 LILLE,FRANCE
FARRIAUX, JP
PEDIATRIC RESEARCH,
1986,
20
(10)
: 1037
-
1037
[24]
DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia
Item, Chike Bellarmine
论文数:
0
引用数:
0
h-index:
0
机构:
Med Univ Vienna, Dept Pediat & Adolescent Med, Wahringer Gurtel 18-20, A-1090 Vienna, Austria
Med Univ Vienna, Dept Pediat & Adolescent Med, Wahringer Gurtel 18-20, A-1090 Vienna, Austria
Item, Chike Bellarmine
Farhadi, Somayeh
论文数:
0
引用数:
0
h-index:
0
机构:
Med Univ Vienna, Dept Pediat & Adolescent Med, Wahringer Gurtel 18-20, A-1090 Vienna, Austria
Med Univ Vienna, Dept Pediat & Adolescent Med, Wahringer Gurtel 18-20, A-1090 Vienna, Austria
Farhadi, Somayeh
Schanzer, Andrea
论文数:
0
引用数:
0
h-index:
0
机构:
Med Univ Vienna, Dept Pediat & Adolescent Med, Wahringer Gurtel 18-20, A-1090 Vienna, Austria
Med Univ Vienna, Dept Pediat & Adolescent Med, Wahringer Gurtel 18-20, A-1090 Vienna, Austria
Schanzer, Andrea
Greber-Platzer, Susanne
论文数:
0
引用数:
0
h-index:
0
机构:
Med Univ Vienna, Dept Pediat & Adolescent Med, Wahringer Gurtel 18-20, A-1090 Vienna, Austria
Med Univ Vienna, Dept Pediat & Adolescent Med, Wahringer Gurtel 18-20, A-1090 Vienna, Austria
Greber-Platzer, Susanne
CLINICAL BIOCHEMISTRY,
2017,
50
(12)
: 729
-
732
[25]
Ineffectiveness of tetrahydrobiopterin in phenylalanine hydroxylase deficiency
论文数:
引用数:
h-index:
机构:
Porta, F.
论文数:
引用数:
h-index:
机构:
Mussa, A.
Spada, M.
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Turin, Dept Pediat, I-10124 Turin, Italy
Univ Turin, Dept Pediat, I-10124 Turin, Italy
Spada, M.
Ponzone, A.
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Turin, Dept Pediat, I-10124 Turin, Italy
Univ Turin, Dept Pediat, I-10124 Turin, Italy
Ponzone, A.
JOURNAL OF INHERITED METABOLIC DISEASE,
2008,
31
: 80
-
80
[26]
Biopterin responsive phenylalanine hydroxylase deficiency
Matalon, R
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Med Branch, Dept Pediat & Microbiol, Galveston, TX USA
Matalon, R
Koch, R
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Med Branch, Dept Pediat & Microbiol, Galveston, TX USA
Koch, R
Michals-Matalon, K
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Med Branch, Dept Pediat & Microbiol, Galveston, TX USA
Michals-Matalon, K
Moseley, K
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Med Branch, Dept Pediat & Microbiol, Galveston, TX USA
Moseley, K
Surendran, S
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Med Branch, Dept Pediat & Microbiol, Galveston, TX USA
Surendran, S
Tyring, S
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Med Branch, Dept Pediat & Microbiol, Galveston, TX USA
Tyring, S
Erlandsen, H
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Med Branch, Dept Pediat & Microbiol, Galveston, TX USA
Erlandsen, H
Gamez, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Med Branch, Dept Pediat & Microbiol, Galveston, TX USA
Gamez, A
Stevens, RC
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Med Branch, Dept Pediat & Microbiol, Galveston, TX USA
Stevens, RC
Romstad, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Med Branch, Dept Pediat & Microbiol, Galveston, TX USA
Romstad, A
Moller, LB
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Med Branch, Dept Pediat & Microbiol, Galveston, TX USA
Moller, LB
Guttler, F
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Med Branch, Dept Pediat & Microbiol, Galveston, TX USA
Guttler, F
GENETICS IN MEDICINE,
2004,
6
(01)
: 27
-
32
[27]
Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency
Ponzone, Alberto
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Turin, Dept Pediat, I-10126 Turin, Italy
Univ Turin, Dept Pediat, I-10126 Turin, Italy
Ponzone, Alberto
论文数:
引用数:
h-index:
机构:
Porta, Francesco
论文数:
引用数:
h-index:
机构:
Mussa, Alessandro
Alluto, Alessandra
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Turin, Dept Pediat, I-10126 Turin, Italy
Univ Turin, Dept Pediat, I-10126 Turin, Italy
Alluto, Alessandra
Ferraris, Silvio
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Turin, Dept Pediat, I-10126 Turin, Italy
Univ Turin, Dept Pediat, I-10126 Turin, Italy
Ferraris, Silvio
Spada, Marco
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Turin, Dept Pediat, I-10126 Turin, Italy
Univ Turin, Dept Pediat, I-10126 Turin, Italy
Spada, Marco
METABOLISM-CLINICAL AND EXPERIMENTAL,
2010,
59
(05):
: 645
-
652
[28]
DIFFERENT PHENOTYPES FOR PHENYLALANINE HYDROXYLASE DEFICIENCY
GUTTLER, F
论文数:
0
引用数:
0
h-index:
0
机构:
JOHN F KENNEDY INST,DK-2600 GLOSTRUP,DENMARK
JOHN F KENNEDY INST,DK-2600 GLOSTRUP,DENMARK
GUTTLER, F
HANSEN, G
论文数:
0
引用数:
0
h-index:
0
机构:
JOHN F KENNEDY INST,DK-2600 GLOSTRUP,DENMARK
JOHN F KENNEDY INST,DK-2600 GLOSTRUP,DENMARK
HANSEN, G
ANNALS OF CLINICAL BIOCHEMISTRY,
1977,
14
(MAY)
: 124
-
134
[29]
TREATMENT OF PHENYLALANINE-HYDROXYLASE DEFICIENCY
SMITH, I
论文数:
0
引用数:
0
h-index:
0
机构:
Medical Unit, Institute of Child Health, London
SMITH, I
ACTA PAEDIATRICA,
1994,
83
: 60
-
65
[30]
Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant
Ye Jun
论文数:
0
引用数:
0
h-index:
0
机构:
China
Ye Jun
Qiu Wen-Juan
论文数:
0
引用数:
0
h-index:
0
机构:
China
Qiu Wen-Juan
Han Lian-Shu
论文数:
0
引用数:
0
h-index:
0
机构:
China
Han Lian-Shu
Zhang Hui-Wen
论文数:
0
引用数:
0
h-index:
0
机构:
China
Zhang Hui-Wen
Gu Xue-Fan
论文数:
0
引用数:
0
h-index:
0
机构:
China
Gu Xue-Fan
中华医学杂志英文版,
2015,
128
(21)
: 2979
-
2980
←
1
2
3
4
5
→