Literature DB >> 8739981

Improved selectivity of urinary oligosaccharide screening using two one-dimensional TLC systems.

N G Abeling1, H Rusch, A H van Gennip.   

Abstract

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Year:  1996        PMID： 8739981     DOI： 10.1007/bf01799445

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


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  2 in total

1.  Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography.

Authors:  R Humbel; M Collart
Journal:  Clin Chim Acta       Date:  1975-04-16       Impact factor: 3.786

2.  Beta-mannosidosis in two brothers with hearing loss.

Authors:  L Dorland; M Duran; F E Hoefnagels; J N Breg; H Fabery de Jonge; K Cransberg; F J van Sprang; O P van Diggelen
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982
  2 in total
  1 in total

1.  Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.

Authors:  Ulrike Mütze; Friederike Bürger; Jessica Hoffmann; Helmut Tegetmeyer; Jens Heichel; Petra Nickel; Johannes R Lemke; Steffen Syrbe; Skadi Beblo
Journal:  Mol Genet Metab Rep       Date:  2016-12-01
  1 in total

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