Literature DB >> 1271426

Prenatal diagnosis of Wolman's disease.

A D Patrick, P Willcox, R Stephens, V G Kenyon.   

Abstract

Amniocentesis was performed in the 15th week of a pregnancy at risk for Wolman's disease. The cultured amniotic fluid cells were found to have a severe deficiency of acid esterase activity consistent with homozygosity of the fetus. The pregnancy was terminated in the 19th week and the prenatal diagnosis confirmed by enzymic and chemical evaluation of the fetal tissues.

Entities:  

Mesh:

Substances:

Year:  1976        PMID: 1271426      PMCID: PMC1013350          DOI: 10.1136/jmg.13.1.49

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  8 in total

1.  Primary familial xanthomatosis with involvement and calcification of the adrenals. Report of two more cases in siblings of a previously described infant.

Authors:  M WOLMAN; V V STERK; S GATT; M FRENKEL
Journal:  Pediatrics       Date:  1961-11       Impact factor: 7.124

2.  Generalized xanthomatosis with calcified adrenals.

Authors:  A ABRAMOV; S SCHORR; M WOLMAN
Journal:  AMA J Dis Child       Date:  1956-03

3.  Wolman's disease: deficiency of E600-resistant acid esterase activity with storage of lipids in lysosomes.

Authors:  B D Lake; A D Patrick
Journal:  J Pediatr       Date:  1970-02       Impact factor: 4.406

4.  A simple radioactive assay for triglyceride lipase.

Authors:  A Kaplan
Journal:  Anal Biochem       Date:  1970-02       Impact factor: 3.365

5.  Lipid studies in Wolman's disease.

Authors:  E C Kyriakides; N Filippone; B Paul; W Grattan; J A Balint
Journal:  Pediatrics       Date:  1970-09       Impact factor: 7.124

6.  Deficiency of acid esterase activity in Wolman's disease.

Authors:  E P Young; A D Patrick
Journal:  Arch Dis Child       Date:  1970-10       Impact factor: 3.791

7.  Deficiency of an acid lipase in Wolman's disease.

Authors:  A D Patrick; B D Lake
Journal:  Nature       Date:  1969-06-14       Impact factor: 49.962

8.  Enzyme deficiency in cholesteryl ester storage idisease.

Authors:  H R Sloan; D S Fredrickson
Journal:  J Clin Invest       Date:  1972-07       Impact factor: 14.808

  8 in total
  2 in total

1.  Prenatal monitoring for Wolman's disease in a pregnancy at risk: first case in the Federal Republic of Germany.

Authors:  H Christomanou; C Cáp
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

Review 2.  Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development.

Authors:  Francis Aguisanda; Natasha Thorne; Wei Zheng
Journal:  Curr Chem Genom Transl Med       Date:  2017-01-30
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.