Zobrazeno 1 - 10
of 110
pro vyhledávání: '"M. D'a. Crawfurd"'
Autor:
M. d‘A. Crawfurd
Publikováno v:
Clinical Genetics. 14:285-286
Autor:
S. J. M. Smith, P. Rudge, E. Holly, B. E. Kendall, R. Bannister, M. d'A. Crawfurd, A. M. Bronstein, E. P. Young, S. H. Morgan
Publikováno v:
QJM: An International Journal of Medicine.
Anderson-Fabry disease is an X-linked inborn error of metabolism characterized by subnormal activity of the lysosomal hydrolase, α-galactosidase A. We have assessed the incidence and nature of neuropathy in 12 patients (seven affected men and five c
Publikováno v:
Brain. 94:51-60
Autor:
M. D'a. Crawfurd, Kusum P. Lele
Publikováno v:
Annals of Human Genetics. 29:199-205
Autor:
M. D'a. Crawfurd
Publikováno v:
Annals of Human Genetics. 25:153-158
Summary An unusual chromosomal constitution, XXxY/XXY, with both mosaicism and a probable partial deletion of an -X-chromosome is reported in a case of Klinefelter's syndrome associated with severe thalassaemia. Evidence is submitted for regarding th
Autor:
M. d‘A. Crawfurd
Publikováno v:
Clinical genetics. 14(6)
A family is reported in which two sibs, one male and the other female, both died within 24 hours of birth with enlarged polycystic kidneys. Postmortem histology in the second child showed gross renal dysplasia. In both children the pancreas was enlar
Autor:
D. M. Hunt, R. R. MacDonald, M. d'A. Crawfurd, D. R. Johnson, H. Muir, M. F. Dean, E. A. Payling Wright, C. R. Payling Wright
Mucopolysaccharidosis Type I (Hurler's syndrome) was diagnosed in an 18 week old fetus of a woman with 1 affected child by direct assay of glycosaminoglycans in amniotic fluid. Subsequently the fetus was aborted by hysterotomy and diagnosis was confi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97c93ad84b3c4328a84155f4733713e4
https://europepmc.org/articles/PMC1013005/
https://europepmc.org/articles/PMC1013005/
Autor:
P. J. Toghill, M. D'a. Crawfurd
Publikováno v:
QJM: An International Journal of Medicine.