Literature DB >> 8051919

Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria.

J Ledvinová1, H Poupĕtová, M Elleder, J Tichý, V Pĕnicková, K Harzer.   

Abstract

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Year:  1994        PMID： 8051919     DOI： 10.1007/bf00735411

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria.

Authors:  K Harzer; M Cantz; A C Sewell; S S Dhareshwar; W Roggendorf; R W Heckl; O Schofer; R Thumler; J Peiffer; W Schlote
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

2.  Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a normal lysosomal neuraminidase.

Authors:  B C Paton; B Schmid; B Kustermann-Kuhn; A Poulos; K Harzer
Journal:  Biochem J       Date:  1992-07-15       Impact factor: 3.857

3.  Synthesis of 2'-(4-methylumbelliferyl)-alpha-D-N-acetylneuraminic acid and detection of skin fibroblast neuraminidase in normal humans and in sialidosis.

Authors:  T G Warner; J S O'Brien
Journal:  Biochemistry       Date:  1979-06-26       Impact factor: 3.162
  3 in total
  1 in total

1.  Protective protein/cathepsin A rescues N-glycosylation defects in neuraminidase-1.

Authors:  Dongning Wang; Slava Zaitsev; Garry Taylor; Alessandra d'Azzo; Erik Bonten
Journal:  Biochim Biophys Acta       Date:  2009-04
  1 in total

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