Literature DB >> 2512428

First trimester diagnosis of glycogen storage disease type II and type III.

Y S Shin1, M Rieth, J Tausenfreund, W Endres.   

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Year:  1989        PMID： 2512428     DOI： 10.1007/bf03335401

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


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  3 in total

1.  First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid alpha-glucosidase in chorionic villous biopsy using antibodies.

Authors:  A Grubisic; Y S Shin; W Meyer; W Endres; U Becker; H Wischerath
Journal:  Clin Genet       Date:  1986-10       Impact factor: 4.438

2.  A simple assay for amylo-1,6-glucosidase to detect heterozygotes for glycogenosis type III in erythrocytes.

Authors:  Y S Shin; R Ungar; M Rieth; W Endres
Journal:  Clin Chem       Date:  1984-10       Impact factor: 8.327

3.  Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-alpha-glucosidase in human fetal and adult tissues and cultured cells.

Authors:  Y S Shin; W Endres; J Unterreithmeier; M Rieth; J Schaub
Journal:  Clin Chim Acta       Date:  1985-05-15       Impact factor: 3.786
  3 in total
  3 in total

1.  Definitive prenatal diagnosis for type III glycogen storage disease.

Authors:  B Z Yang; J H Ding; B I Brown; Y T Chen
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

2.  Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.

Authors:  R Parvari; J Shen; E Hershkovitz; Y T Chen; S W Moses
Journal:  J Inherit Metab Dis       Date:  1998-04       Impact factor: 4.982

3.  Diagnosis of glycogen storage disease.

Authors:  Y S Shin
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982
  3 in total

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