Literature DB >> 3106716

The effect of D-(+)-glucosamine on levels of free N-acetylneuraminic acid and UDP-N-acetylhexosamines in infantile sialic acid storage disease (ISSD) fibroblasts.

E Paschke, G Höfler, A Roscher.   

Abstract

An impairment in the regulation of N-acetylneuraminic acid (NANA) biosynthesis might potentially contribute to accumulation of free NANA in fibroblasts of patients with sialic acid storage disease (ISSD). By the use of a glucosamine loading test an increase in uridine-diphosphate-N-acetyl-hexosamines (UDP-HexNAc) but not in free NANA was found. NANA biosynthesis therefore appears to be under normal regulatory control in ISSD.

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Year:  1987        PMID： 3106716     DOI： 10.1007/bf01799487

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


  8 in total

1.  [Sialuria: an original metabolic disorder].

Authors:  G Fontaine; G Biserte; J Montreuil; A Dupont; J P Farriaux
Journal:  Helv Paediatr Acta       Date:  1968

2.  Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease.

Authors:  M Renlund; F Tietze; W A Gahl
Journal:  Science       Date:  1986-05-09       Impact factor: 47.728

3.  Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism.

Authors:  M Renlund; M A Chester; A Lundblad; J Parkkinen; T Krusius
Journal:  Eur J Biochem       Date:  1983-01-17

4.  N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetylneuraminic acid storage disease.

Authors:  L W Hancock; A L Horwitz; G Dawson
Journal:  Biochim Biophys Acta       Date:  1983-10-04

5.  Infantile type of sialic acid storage disease with sialuria.

Authors:  E Paschke; G Trinkl; W Erwa; M Pavelka; I Mutz; A Roscher
Journal:  Clin Genet       Date:  1986-05       Impact factor: 4.438

6.  Alterations in cultured fibroblasts of sibs with an infantile form of a free (unbound) sialic acid storage disorder.

Authors:  G H Thomas; J Scocca; J Libert; E Vamos; C S Miller; L W Reynolds
Journal:  Pediatr Res       Date:  1983-05       Impact factor: 3.756

7.  Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts.

Authors:  G H Thomas; L W Reynolds; C S Miller
Journal:  Pediatr Res       Date:  1985-05       Impact factor: 3.756

8.  Infantile sialic acid storage disease: the fate of biosynthetically labeled N-acetyl-(3H)-neuraminic acid in cultured human fibroblasts.

Authors:  E Paschke; G Höfler; A Roscher
Journal:  Pediatr Res       Date:  1986-08       Impact factor: 3.756
  8 in total
  1 in total

1.  Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease.

Authors:  E Paschke; W Gruber; E Ring; W Sperl
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982
  1 in total

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