Literature DB >> 7275564

Niemann-Pick disease type B in an Irish family.

E Lawlor, G T Besley, P Pierce, I J Temperley.   

Abstract

Mesh:

Substances:

Year:  1981        PMID: 7275564     DOI: 10.1007/BF02938230

Source DB:  PubMed          Journal:  Ir J Med Sci        ISSN: 0021-1265            Impact factor:   1.568


× No keyword cloud information.
  6 in total

1.  Sphingomyelinase defect in Niemann-Pick disease, type C, fibroblasts.

Authors:  G T Besley
Journal:  FEBS Lett       Date:  1977-08-01       Impact factor: 4.124

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

Authors:  E L Schneider; P G Pentchev; S R Hibbert; A Sawitsky; R O Brady
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318

3.  Sphingomyelinase isozymes of human tissues: a phpothesis on enzymatic differentiation of the neuropathic and non-neuropathic forms of Niemann-Pick disease.

Authors:  S Yamaguchi; K Suzuki
Journal:  Biochem Biophys Res Commun       Date:  1977-08-08       Impact factor: 3.575

4.  Isolation and characterization of glucocerebrosidase from human placental tissue.

Authors:  P G Pentchev; R O Brady; S R Hibbert; A E Gal; D Shapiro
Journal:  J Biol Chem       Date:  1973-08-10       Impact factor: 5.157

5.  Treatment of Gaucher's disease with liposome-entrapped glucocerebroside: beta-glucosidase.

Authors:  P E Belchetz; J C Crawley; I P Braidman; G Gregoriadis
Journal:  Lancet       Date:  1977-07-16       Impact factor: 79.321

6.  Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants.

Authors:  G T Besley; A J Hoogeboom; A Hoogeveen; W J Kleijer; H Galjaard
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

  6 in total
  1 in total

1.  Enzyme activities and phospholipid storage patterns in brain and spleen samples from Niemann-Pick disease variants: a comparison of neuropathic and non-neuropathic forms.

Authors:  G T Besley; M Elleder
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.