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Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

作者信息

Jakobs C, Ogier H, Rabier D, Gibson K M

出版信息

Prenat Diagn. 1993 Feb;13(2):150. doi: 10.1002/pd.1970130213.

DOI:10.1002/pd.1970130213
PMID:8464836
Abstract
摘要

相似文献

1
Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).琥珀酸半醛脱氢酶缺乏症（4-羟基丁酸尿症）的产前检测。
Prenat Diagn. 1993 Feb;13(2):150. doi: 10.1002/pd.1970130213.
2
Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays.
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Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling.
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Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography-mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiency.气相色谱-质谱法快速灵敏检测琥珀酸半醛脱氢酶缺乏症患者尿液中的4-羟基丁酸及其相关化合物
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4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy.
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[A case of succinic semialdehyde dehydrogenase deficiency].
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引用本文的文献

1
Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development.胚胎期琥珀酸半醛脱氢酶（SSADH）缺乏症中的神经递质改变表明，发育过程中存在兴奋性增强的状态。
BMC Dev Biol. 2008 Nov 28;8:112. doi: 10.1186/1471-213X-8-112.
2
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).两个外显子跳跃突变作为琥珀酸半醛脱氢酶缺乏症（4-羟基丁酸尿症）的分子基础。
Am J Hum Genet. 1998 Aug;63(2):399-408. doi: 10.1086/301964.
3
Inherited disorders of GABA metabolism.
γ-氨基丁酸代谢的遗传性疾病。
J Inherit Metab Dis. 1993;16(4):704-15. doi: 10.1007/BF00711902.
4
Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays.
J Inherit Metab Dis. 1994;17(6):732-7. doi: 10.1007/BF00712016.
5
Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney.胎儿脑、肝和肾中正常和缺陷型琥珀酸半醛脱氢酶活性的酶学和免疫学证明
J Inherit Metab Dis. 1993;16(3):523-6. doi: 10.1007/BF00711671.