Literature DB >> 14081947

FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID.

C C SWEELEY, B KLIONSKY.   

Abstract

Entities:  

Keywords:  HISTOCYTOCHEMISTRY; KIDNEY; LIPIDS; LIPOIDOSIS

Mesh:

Substances:

Year:  1963        PMID: 14081947

Source DB:  PubMed          Journal:  J Biol Chem        ISSN: 0021-9258            Impact factor:   5.157


× No keyword cloud information.
  75 in total

Review 1.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

Review 2.  On the structural elucidation of GalNAc-GD1a.

Authors:  Yu-Teh Li
Journal:  Neurochem Res       Date:  2012-01-17       Impact factor: 3.996

3.  High prevalence of subclinical hypothyroidism in patients with Anderson-Fabry disease.

Authors:  A C Hauser; A Gessl; M Lorenz; T Voigtländer; M Födinger; G Sunder-Plassmann
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

4.  Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

Authors:  Sang H Shin; Stefanie Kluepfel-Stahl; Adele M Cooney; Christine R Kaneski; Jane M Quirk; Raphael Schiffmann; Roscoe O Brady; Gary J Murray
Journal:  Pharmacogenet Genomics       Date:  2008-09       Impact factor: 2.089

Review 5.  Gene therapy for Fabry disease.

Authors:  C Siatskas; J A Medin
Journal:  J Inherit Metab Dis       Date:  2001       Impact factor: 4.982

Review 6.  Progress in investigations of sphingolipidoses.

Authors:  M Adachi; L Schneck; B W Volk
Journal:  Acta Neuropathol       Date:  1978-08-07       Impact factor: 17.088

Review 7.  Enzyme replacement therapy and beyond-in memoriam Roscoe O. Brady, M.D. (1923-2016).

Authors:  Markus Ries
Journal:  J Inherit Metab Dis       Date:  2017-03-17       Impact factor: 4.982

8.  Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia.

Authors:  M W Spence; J T Clarke; D M D'Entremont; G A Sapp; E R Smith; A L Goldbloom; G Davar
Journal:  J Med Genet       Date:  1978-12       Impact factor: 6.318

9.  [Lipoid chemical studies on angiokeratoma corporis diffusum (Fabry's syndrome)].

Authors:  K H Vogelberg; H G Solbach; F A Gries
Journal:  Klin Wochenschr       Date:  1969-09-01

10.  Vascular dysfunction in the alpha-galactosidase A-knockout mouse is an endothelial cell-, plasma membrane-based defect.

Authors:  James L Park; Steven E Whitesall; Louis G D'Alecy; Liming Shu; James A Shayman
Journal:  Clin Exp Pharmacol Physiol       Date:  2008-06-18       Impact factor: 2.557

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.