尼曼-匹克病的宫内诊断 - Suppr

Suppr

超能文献

In utero diagnosis of Niemann-Pick disease.

作者信息

Epstein C J, Brady R O, Schneider E L, Bradley R M, Shapiro D

出版信息

Am J Hum Genet. 1971 Sep;23(5):533-5.

PMID:4328491

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1706757/

Abstract

摘要

相似文献

In utero diagnosis of Niemann-Pick disease.

Am J Hum Genet. 1971 Sep;23(5):533-5.

Prenatal Niemann-Pick disease: biochemical and histologic examination of a 19-gestational week fetus.

Pediatr Res. 1972 Sep;6(9):720-9. doi: 10.1203/00006450-197209000-00005.

In utero diagnosis of globoid cell leukodystrophy (Krabb's disease).

Biochem Biophys Res Commun. 1971 Dec 3;45(5):1363-6. doi: 10.1016/0006-291x(71)90170-7.

Infantile (type II) Gaucher's disease: in utero diagnosis and fetal pathology.

J Pediatr. 1972 Dec;81(6):1134-9. doi: 10.1016/s0022-3476(72)80245-2.

Letters: A simple sphingomyelinase determination for Niemann-Pick disease: differential diagnosis of types A, B and C.

J Neurochem. 1973 Oct;21(4):999-1001. doi: 10.1111/j.1471-4159.1973.tb07545.x.

Niemann-Pick disease: prenatal diagnoses and studies of sphingomyelinase activities.

Am J Med Genet. 1978;2(4):345-56. doi: 10.1002/ajmg.1320020405.

A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease.

N Engl J Med. 1975 Sep 25;293(13):632-6. doi: 10.1056/NEJM197509252931304.

The use of white cells as a source of diagnostic material for lipid storage diseases.

Clin Chim Acta. 1969 Aug;25(2):331-8. doi: 10.1016/0009-8981(69)90275-7.

Niemann-Pick disease type B: prenatal diagnosis and enzymatic and chemical studies on fetal brain and liver.

Am J Hum Genet. 1981 May;33(3):337-44.

Studies on cerebral lipidosis. Prenatal diagnosis of Tay-Sachs disease.

Acta Paediatr Jpn. 1971 Dec;13(2):13-6. doi: 10.1111/j.1442-200x.1971.tb02367.x.

引用本文的文献

Benefits from unearthing "a biochemical Rosetta Stone".

J Biol Chem. 2010 Dec 31;285(53):41216-21. doi: 10.1074/jbc.X110.197954. Epub 2010 Oct 28.

Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy.

J Med Genet. 1981 Oct;18(5):359-61. doi: 10.1136/jmg.18.5.359.

Prenatal detection of genetic disorders.

Am J Hum Genet. 1972 Mar;24(2):214-26.

The prenatal diagnosis of metabolic disorders.

J R Coll Physicians Lond. 1973 Apr;7(3):251-8.

Inborn errors of metabolism: principles and their applications.

Can Med Assoc J. 1972 Mar 18;106(6):677 passim.

Prenatal diagnosis and genetic counselling.

J Clin Pathol Suppl (R Coll Pathol). 1974;8:150-5.

Recent advances in ophthalmic genetics. Genetic counselling.

Br J Ophthalmol. 1974 Apr;58(4):427-37. doi: 10.1136/bjo.58.4.427.

Antenatal diagnosis of sphingolipid and mucopolysaccharide storage diseases.

Can Med Assoc J. 1975 Sep 20;113(6):507-11.

A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase.

J Med Genet. 1978 Oct;15(5):370-4. doi: 10.1136/jmg.15.5.370.

Basic findings and current developments in sphingolipidoses.

Hum Genet. 1979 Mar 12;47(2):113-34. doi: 10.1007/BF00273194.

本文引用的文献

THE METABOLISM OF GLUCOCEREBROSIDES. I. PURIFICATION AND PROPERTIES OF A GLUCOCEREBROSIDE-CLEAVING ENZYME FROM SPLEEN TISSUE.

J Biol Chem. 1965 Jan;240:39-43.

The metabolism of ceramide trihexosides. I. Purification and properties of an enzyme that cleaves the terminal galactose molecule of galactosylgalactosylglucosylceramide.

J Biol Chem. 1967 Mar 10;242(5):1021-6.

The metabolism of sphingomyelin. I. Purification and properties of a sphingomyelin-cleaving enzyme from rat liver tissue.

J Biol Chem. 1966 Mar 10;241(5):1081-4.

Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease.

Biochem Biophys Res Commun. 1969 Mar 10;34(5):582-8. doi: 10.1016/0006-291x(69)90777-3.

Fabry's disease: antenatal detection.

Science. 1971 Apr 9;172(3979):174-5. doi: 10.1126/science.172.3979.174.

Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder.

N Engl J Med. 1970 Feb 5;282(6):302-7. doi: 10.1056/NEJM197002052820604.

The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae.

Proc Natl Acad Sci U S A. 1966 Feb;55(2):366-9. doi: 10.1073/pnas.55.2.366.

Role of amniocentesis in the intrauterine detection of genetic disorders.

N Engl J Med. 1970 Mar 12;282(11):596-9. doi: 10.1056/NEJM197003122821105.

Prenatal diagnosis of Tay-Sachs disease.

Lancet. 1970 Mar 21;1(7647):582-4. doi: 10.1016/s0140-6736(70)91624-7.

In-utero detection of type-II glycogenosis (pompe's disease).

Lancet. 1969 Dec 13;2(7633):1277-8. doi: 10.1016/s0140-6736(69)90811-3.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验