Literature DB >> 4272965

A method for rapid prenatal diagnosis of glycogenosis II (Pompe's disease).

H Galjaard, M Mekes, D E Josselin de Jong JE, M F Niermeijer.   

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Year:  1973        PMID： 4272965     DOI： 10.1016/0009-8981(73)90234-9

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


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  17 in total

1.  Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease.

Authors:  A H Fensom; P F Benson; S Blunt; S P Brown; T M Coltart
Journal:  J Med Genet       Date:  1976-04       Impact factor: 6.318

2.  Prevalence of different types of lysosomal storage diseases in Saudi Arabia.

Authors:  P T Ozand; G Gascon; A al Aqeel; G Roberts; M Dhalla; S B Subramanyam
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Methodology of the quantitative cytochemical analysis of single or small numbers of cultured cells.

Authors:  H Galjaard; J J Van Hoogstraten; J E De Josselin de Jong; M P Mulder
Journal:  Histochem J       Date:  1974-07

4.  Rapid prenatal diagnosis of GM1-gangliosidosis using microchemical methods.

Authors:  W J Kleijer; E Van der Veer; M F Niermeijer
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132

5.  Myopathy due to juvenile acid maltase deficiency affecting exclusively the type I fibres.

Authors:  T Papapetropoulos; C Paschalis; P Manda
Journal:  J Neurol Neurosurg Psychiatry       Date:  1984-02       Impact factor: 10.154

6.  Prenatal diagnosis of genetic disorders.

Authors:  M F Niermeijer; E S Sachs; M Jahodova; C Tichelaar-Klepper; W J Kleijer; H Galjaard
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

7.  Biochemical, immunological, and cell genetic studies in glycogenosis type II.

Authors:  A J Reuser; J F Koster; A Hoogeveen; H Galjaard
Journal:  Am J Hum Genet       Date:  1978-03       Impact factor: 11.025

8.  Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

Authors:  C F Boerkoel; R Exelbert; C Nicastri; R C Nichols; F W Miller; P H Plotz; N Raben
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025

9.  The biochemical diagnosis of lysosomal storage diseases--a review of five years experience.

Authors:  I J Wallace; C A McCusker; D McCormick
Journal:  Ir J Med Sci       Date:  1990-07       Impact factor: 1.568

10.  Juvenile acid maltase deficiency presenting as paravertebral pseudotumour.

Authors:  T C Iancu; A Lerner; H Shiloh; N Bashan; S Moses
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183
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