Literature DB >> 6418415

Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency (Pompe's disease).

W Blom, J C Luteyn, H H Kelholt-Dijkman, J G Huijmans, M C Loonen.   

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Year:  1983        PMID： 6418415     DOI： 10.1016/0009-8981(83)90200-0

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  9 in total

1.  Beta-mannosidosis and ethanolaminuria in a female patient.

Authors:  H Wijburg; J de Jong; R Wevers; J Bakkeren; F Trijbels; R Sengers
Journal:  Eur J Pediatr       Date:  1992-04       Impact factor: 3.183

2.  Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.

Authors:  W J Kleijer; P Hu; R Thoomes; M Boer; J G Huijmans; W Blom; O P Van Diggelen; E Seemanova; M Macek
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Hepatic glycogenosis with defects in the glycogen breakdown pathway: urinary oligosaccharide profile.

Authors:  M L Giros; L Alvarez
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

4.  A clinical biochemist's view of the investigation of suspected inherited metabolic disease.

Authors:  W Blom; J G Huijmans; G B van den Berg
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

5.  Oligosaccharide excretion in adult Gaucher disease.

Authors:  J G de Jong; J M Aerts; S van Weely; C E Hollak; J van Pelt; L M van Woerkom; M L Liebrand-van Sambeek; R A Wevers
Journal:  J Inherit Metab Dis       Date:  1998-02       Impact factor: 4.982

6.  Novel mixed-linkage β-glucan activated by c-di-GMP in Sinorhizobium meliloti.

Authors:  Daniel Pérez-Mendoza; Miguel Ángel Rodríguez-Carvajal; Lorena Romero-Jiménez; Gabriela de Araujo Farias; Javier Lloret; María Trinidad Gallegos; Juan Sanjuán
Journal:  Proc Natl Acad Sci U S A       Date:  2015-02-03       Impact factor: 11.205

7.  alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder.

Authors:  O P van Diggelen; D Schindler; R Willemsen; M Boer; W J Kleijer; J G Huijmans; W Blom; H Galjaard
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

8.  Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins.

Authors:  A T Van der Ploeg; L H Hoefsloot; M Hoogeveen-Westerveld; E M Petersen; A J Reuser
Journal:  Am J Hum Genet       Date:  1989-06       Impact factor: 11.025

9.  Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.

Authors:  Patryk Lipiński; Krzysztof Szczałuba; Piotr Buda; Ekaterina Y Zakharova; Galina Baydakova; Agnieszka Ługowska; Agnieszka Różdzyńska-Świątkowska; Zuzanna Cyske; Grzegorz Węgrzyn; Agnieszka Pollak; Rafał Płoski; Anna Tylki-Szymańska
Journal:  Int J Mol Sci       Date:  2022-09-28       Impact factor: 6.208
  9 in total

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