Literature DB >> 3141716

Infantile sialic acid storage disease in two siblings.

A Cooper1, I B Sardharwalla, M Thornley, K P Ward.   

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Year:  1988        PMID： 3141716     DOI： 10.1007/bf01804252

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


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  10 in total

1.  The thiobarbituric acid assay of sialic acids.

Authors:  L WARREN
Journal:  J Biol Chem       Date:  1959-08       Impact factor: 5.157

2.  Prenatal diagnosis and confirmation of infantile sialic acid storage disease.

Authors:  E Vamos; J Libert; N Elkhazen; E Jauniaux; J Hustin; P Wilkin; J Baumkötter; K Mendla; M Cantz; G Strecker
Journal:  Prenat Diagn       Date:  1986 Nov-Dec       Impact factor: 3.050

3.  Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane.

Authors:  G M Mancini; F W Verheijen; H Galjaard
Journal:  Hum Genet       Date:  1986-07       Impact factor: 4.132

4.  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

5.  Congenital ascites as a presenting sign of lysosomal storage disease.

Authors:  J E Gillan; J A Lowden; K Gaskin; E Cutz
Journal:  J Pediatr       Date:  1984-02       Impact factor: 4.406

6.  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

7.  Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings.

Authors:  M Tondeur; J Libert; E Vamos; F Van Hoof; G H Thomas; G Strecker
Journal:  Eur J Pediatr       Date:  1982-10       Impact factor: 3.183

8.  Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.

Authors:  R E Stevenson; M Lubinsky; H A Taylor; D A Wenger; R J Schroer; P M Olmstead
Journal:  Pediatrics       Date:  1983-10       Impact factor: 7.124

9.  Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues.

Authors:  L W Hancock; M M Thaler; A L Horwitz; G Dawson
Journal:  J Neurochem       Date:  1982-03       Impact factor: 5.372

10.  Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine.

Authors:  A Cooper; C Hatton; M Thornley; I B Sardharwalla
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982
  10 in total
  1 in total

1.  Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.

Authors:  G M Mancini; C E Beerens; P P Aula; F W Verheijen
Journal:  J Clin Invest       Date:  1991-04       Impact factor: 14.808
  1 in total

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