Literature DB >> 6788730

Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family.

J Gehler, A C Sewell, C Becker, J Hartmann, J Spranger.   

Abstract

Two members of a consanguineous Italian family are described with the symptoms of aspartylglycosaminuria. Both patients exhibit mental retardation, some facial dysmorphism and discrete radiological abnormalities affecting the skull and vertebrae. Peripheral blood smears revealed multivacuolated lymphocytes. Enzyme studies in leucocytes and cultured fibroblasts showed an absence of aspartylglucosaminidase activity. Urinary analysis demonstrated abnormal oligosacchariduria and aspartylglycosamine excretion. Angiokeratoma corporis diffusum was observed in one patient.

Entities:  

Mesh：

Substances：

Year:  1981        PMID： 6788730

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN： 0018-022X


  8 in total

1.  Spectrum of mutations in aspartylglucosaminuria.

Authors:  E Ikonen; P Aula; K Grön; O Tollersrud; R Halila; T Manninen; A C Syvänen; L Peltonen
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-15       Impact factor: 11.205

2.  The simple detection of neuraminic acid-containing urinary oligosaccharides in patients with glycoprotein storage diseases.

Authors:  A C Sewell
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

3.  The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

Authors:  Markus Ries; Uma Ramaswami; Rossella Parini; Bengt Lindblad; Catharina Whybra; Ingrid Willers; Andreas Gal; Michael Beck
Journal:  Eur J Pediatr       Date:  2003-09-20       Impact factor: 3.183

4.  Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.

Authors:  H Park; M B Vettese; A H Fensom; K J Fisher; N N Aronson
Journal:  Biochem J       Date:  1993-03-15       Impact factor: 3.857

5.  Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria.

Authors:  T Kanzaki; A M Wang; R J Desnick
Journal:  J Clin Invest       Date:  1991-08       Impact factor: 14.808

6.  Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4.

Authors:  K Grön; P Aula; L Peltonen
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

7.  Characterization of four monosialo and a novel disialo Asn N-glycosides from the urine of a patient with aspartylglycosaminuria.

Authors:  F Irie; H Murakoshi; T Suzuki; Y Suzuki; K Kon; S Ando; K Yoshida; Y Hirabayashi
Journal:  Glycoconj J       Date:  1995-06       Impact factor: 2.916

8.  Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.

Authors:  E Ikonen; M Baumann; K Grön; A C Syvänen; N Enomaa; R Halila; P Aula; L Peltonen
Journal:  EMBO J       Date:  1991-01       Impact factor: 11.598
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.