Literature DB >> 4187982

In-utero detection of type-II glycogenosis (pompe's disease).

H L Nadler, A M Messina.   

Abstract

Entities:  

Mesh:

Substances:

Year:  1969        PMID: 4187982     DOI: 10.1016/s0140-6736(69)90811-3

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


× No keyword cloud information.
  10 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.  Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures.

Authors:  H Isaacs; N Savage; M Badenhorst; T Whistler
Journal:  J Neurol Neurosurg Psychiatry       Date:  1986-09       Impact factor: 10.154

3.  Ocular ultrastructural study in a fetus with type II glycogenosis.

Authors:  J Libert; J J Martin; C Ceuterick; P Danis
Journal:  Br J Ophthalmol       Date:  1977-07       Impact factor: 4.638

4.  In utero diagnosis of Niemann-Pick disease.

Authors:  C J Epstein; R O Brady; E L Schneider; R M Bradley; D Shapiro
Journal:  Am J Hum Genet       Date:  1971-09       Impact factor: 11.025

5.  Prenatal diagnosis and genetic counselling.

Authors:  D J Brock
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

6.  The use of amniocentesis for prenatal genetic counseling.

Authors:  M Gertner; L Y Hsu; J Martin; K Hirshhorn
Journal:  Bull N Y Acad Med       Date:  1970-11

Review 7.  The glycogen storage diseases.

Authors:  B E Ryman
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

Review 8.  Antenatal detection of genetic enzyme defects.

Authors:  P F Benson
Journal:  Proc R Soc Med       Date:  1971-11

9.  A sensitive semi-automated kinetic assay of alpha-D-glucosidase for the prenatal diagnosis of type 2 glycogenosis (Pompe's disease).

Authors:  K Blau
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

10.  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

  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.