Prenatal diagnosis of hereditary tyrosinemia.
作者信息
Steinmann B, Gitzelmann R, Kvittingen E A, Stokke O
出版信息
N Engl J Med. 1984 Mar 29;310(13):855-6. doi: 10.1056/NEJM198403293101315.
PMID:6700679
Abstract
摘要
相似文献
1
Prenatal diagnosis of hereditary tyrosinemia.遗传性酪氨酸血症的产前诊断
N Engl J Med. 1984 Mar 29;310(13):855-6. doi: 10.1056/NEJM198403293101315.
2
Neonatal and prenatal diagnosis of hereditary tyrosinaemia.遗传性酪氨酸血症的新生儿及产前诊断
Lancet. 1983 Jun 4;1(8336):1279. doi: 10.1016/s0140-6736(83)92731-9.
3
First-trimester prenatal diagnosis of tyrosinemia type I by amniotic fluid succinylacetone determination.通过羊水琥珀酰丙酮测定进行孕早期Ⅰ型酪氨酸血症的产前诊断。
Prenat Diagn. 1990 Feb;10(2):133-4. doi: 10.1002/pd.1970100210.
4
Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia.遗传性酪氨酸血症中肝脏疾病先于氨基酸异常出现的证据。
N Engl J Med. 1983 May 26;308(21):1265-7. doi: 10.1056/NEJM198305263082105.
5
Special imaging casebook. Hereditary tyrosinemia, acute type I.特殊影像病例集。遗传性酪氨酸血症，I型急性型。
J Perinatol. 1997 Jan-Feb;17(1):87-90.
6
Hereditary tyrosinemia type I--an overview.遗传性I型酪氨酸血症——概述
Scand J Clin Lab Invest Suppl. 1986;184:27-34.
7
[Hereditary tyrosinemia in an acute form: a case report (author's transl)].急性型遗传性酪氨酸血症：一例报告（作者译）
Pediatr Med Chir. 1981 Jan-Feb;3(1):101-4.
8
The antenatal diagnosis and aid to the management of hereditary tyrosinaemia by use of a specific and sensitive GC-MS assay for succinylacetone.
J Inherit Metab Dis. 1984;7 Suppl 2:135-6. doi: 10.1007/978-94-009-5612-4_42.
9
[Hereditary tyrosinemia and alpha-1-fetoprotein. I. Clinical value of alpha-fetoprotein in hereditary tyrosinemia].
Pathol Biol (Paris). 1973 May;21(5):449-55.
10
[Tyrosinemia].[酪氨酸血症]
Cesk Pediatr. 1970 Mar;25(3):109-11.
引用本文的文献
1
Prenatal diagnosis of tyrosinaemia type I by use of stable isotope dilution mass spectrometry.利用稳定同位素稀释质谱法进行Ⅰ型酪氨酸血症的产前诊断。
Eur J Pediatr. 1985 Jul;144(2):209-10. doi: 10.1007/BF00451920.
2
Prenatal diagnosis of inborn errors of metabolism with renal manifestations.伴有肾脏表现的先天性代谢缺陷的产前诊断。
Pediatr Nephrol. 1987 Jul;1(3):540-5. doi: 10.1007/BF00849267.
Zotero 插件