NEONATAL HYPERPHENYLALANINEMIA PRESUMABLY CAUSED BY GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE DEFICIENCY

被引：28

作者：

DHONDT, JL

FARRIAUX, JP

BOUDHA, A

LARGILLIERE, C

RINGEL, J

ROGER, MM

LEEMING, RJ

机构：

[1] GEN HOSP, DEPT HAEMATOL, BIRMINGHAM B4 6NH, W MIDLANDS, ENGLAND

[2] CITE HOSP LILLE, SERV GENET & MALAD METAB ENFANT, LILLE, FRANCE

[3] ST DENIS REUNION, SERV PEDIAT, LILLE, FRANCE

来源：

JOURNAL OF PEDIATRICS | 1985年 / 106卷 / 06期

关键词：

D O I：

10.1016/S0022-3476(85)80251-1

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：954 / 956

页数：3

共 11 条

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[3] TETRAHYDROBIOPTERIN DEFICIENCIES - PRELIMINARY-ANALYSIS FROM AN INTERNATIONAL SURVEY
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[4] DIAGNOSIS OF VARIANTS OF HYPERPHENYLALANINEMIA BY DETERMINATION OF PTERINS IN URINE
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[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1981, 4 (02) : 59 - 60
[6] NEOPTERIN, A NEW BIOCHEMICAL MARKER FOR CLINICAL-ASSESSMENT OF CELL-MEDIATED IMMUNE-RESPONSE
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[7] BLOOD SPOTS ON GUTHRIE CARDS CAN BE USED FOR INHERITED TETRAHYDROBIOPTERIN DEFICIENCY SCREENING IN HYPERPHENYLALANINEMIC INFANTS
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[J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1984, 59 (01) : 58 - 61
[8] CURRENT STATUS OF BIOPTERIN SCREENING
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[J]. JOURNAL OF PEDIATRICS, 1984, 104 (04) : 579 - 581
[9] MUSKIET FAJ, 1979, CLIN CHEM, V25, P1281
[10] GTP CYCLOHYDROLASE-I DEFICIENCY, A NEW ENZYME DEFECT CAUSING HYPERPHENYLALANINEMIA WITH NEOPTERIN, BIOPTERIN, DOPAMINE, AND SEROTONIN DEFICIENCIES AND MUSCULAR HYPOTONIA
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[J]. EUROPEAN JOURNAL OF PEDIATRICS, 1984, 141 (04) : 208 - 214

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