Literature DB >> 4143049

Letter: Angiokeratoma corporis diffusum and lysosomal enzyme deficiency.

M C Loonen, L Lugt, C L Franke.   

Abstract

Entities:  

Mesh:

Substances:

Year:  1974        PMID: 4143049     DOI: 10.1016/s0140-6736(74)90984-2

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


× No keyword cloud information.
  14 in total

Review 1.  Sialidosis: a review of human neuraminidase deficiency.

Authors:  J A Lowden; J S O'Brien
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

Review 2.  Glycosphingolipid hydrolases: properties and molecular genetics.

Authors:  M Wan Ho; A G Norden; J A Alhadeff; J S O'Brien
Journal:  Mol Cell Biochem       Date:  1977-10-07       Impact factor: 3.396

3.  Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes.

Authors:  S Palmeri; A T Hoogeveen; F W Verheijen; H Galjaard
Journal:  Am J Hum Genet       Date:  1986-02       Impact factor: 11.025

Review 4.  Metabolic syndromes with dermatologic manifestations.

Authors:  M Irons; H L Levy
Journal:  Clin Rev Allergy       Date:  1986-02

5.  Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia.

Authors:  A M Pierides; G Holti; A L Crombie; D F Roberts; S E Gardiner; A Colling; J Anderson
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

6.  The genetic defect in the various types of human beta-galactosidase deficiency.

Authors:  H L Hoeksema; J De Wit; A Westerveld
Journal:  Hum Genet       Date:  1980-02       Impact factor: 4.132

7.  Adult type mucolipidosis with beta-galactosidase and sialidase deficiency. Histological and biochemical studies.

Authors:  T Kobayashi; M Ohta; I Goto; Y Tanaka; Y Kuroiwa
Journal:  J Neurol       Date:  1979-09       Impact factor: 4.849

8.  Nature of the mutation in adult beta-galactosidase deficient patients.

Authors:  J S O'Brien; A G Norden
Journal:  Am J Hum Genet       Date:  1977-03       Impact factor: 11.025

9.  beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature.

Authors:  Y Suzuki; N Nakamura; K Fukuoka; Y Shimada; M Uono
Journal:  Hum Genet       Date:  1977-04-15       Impact factor: 4.132

10.  Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis.

Authors:  D I McCallum; R F Macadam; A W Johnston
Journal:  J Med Genet       Date:  1980-02       Impact factor: 6.318

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.