Literature DB >> 108196

Basic findings and current developments in sphingolipidoses.

H Pilz, R Heipertz, D Seidel.   

Abstract

Sphingolipidoses are caused by recessively inherited deficiencies of lysosomal hydrolases. The clinical backgrounds of and current biochemical and genetic approaches to the different forms and variants of gangliosidoses, trihexosylceramidosis (Fabry's disease), galactosylceramidosis (Krabbe's disease), sulfatidoses (metachromatic leukodystrophies), glucosylceramidosis (Gaucher's disease), sphingomyelinoses (Niemann-Pick disease) and ceramidosis (Farber's disease) are presented.

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Year:  1979        PMID： 108196     DOI： 10.1007/bf00273194

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  216 in total

1.  On a biochemically special form of infantile amaturotic idiocy.

Authors:  H JATZKEWITZ; K SANDHOFF
Journal:  Biochim Biophys Acta       Date:  1963-06-18

2.  [Histological methods in differential diagnosis of leukodystrophy from lipoidosis].

Authors:  T VON HIRSCH; J PEIFFER
Journal:  Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr       Date:  1955

3.  Gene transfer to human cells: transducing phage lambda plac gene expression in GMI-gangliosidosis fibroblasts.

Authors:  J Horst; F Kluge; K Beyreuther; W Gerok
Journal:  Proc Natl Acad Sci U S A       Date:  1975-09       Impact factor: 11.205

4.  A novel chromogenic substrate for assaying glucocerebrosidase activity.

Authors:  A E Gal; P G Pentchev; F J Fash
Journal:  Proc Soc Exp Biol Med       Date:  1976-11

5.  Microheterogeneity of arylsulfatase A from human tissues.

Authors:  R L Stevens; A L Fluharty; A R Killgrove; H Kihara
Journal:  Biochim Biophys Acta       Date:  1976-10-11

6.  Clinical and enzymatic variations in G M1 generalized gangliosidosis.

Authors:  H S Singer; I A Schafer
Journal:  Am J Hum Genet       Date:  1972-07       Impact factor: 11.025

7.  Urinary test for identification of Tay-Sachs genotypes.

Authors:  R Navon; B Padeh
Journal:  J Pediatr       Date:  1972-06       Impact factor: 4.406

8.  [Niemann-Pick disease in the adult. Lipid analyses of the body organs and the brain of autopsy- resp. biopsy material from two cases].

Authors:  H Pilz
Journal:  Dtsch Med Wochenschr       Date:  1970-09-18       Impact factor: 0.628

9.  A practical chromogenic procedure for the diagnosis of Krabbe's disease.

Authors:  A E Gal; R O Brady; P G Pentchev; F S Furbish; K Suzuki; H Tanaka; E L Schneider
Journal:  Clin Chim Acta       Date:  1977-05-16       Impact factor: 3.786

10.  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
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  2 in total

Review 1.  Genetic disorders presenting as "schizophrenia". Karl Bonhoeffer's early view of the psychoses in the light of medical genetics.

Authors:  P Propping
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

2.  A comparative study of cytoplasmic granules imaged by the real-time microscope, Nile Red and Filipin in fibroblasts from patients with lipid storage diseases.

Authors:  N-A Pham; M R Gal; R D Bagshaw; A J Mohr; B Chue; T Richardson; J W Callahan
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.750
  2 in total

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