ZIB

Hits per page

hits 1 - 2 | 2 hits

Sorting

Electronic Resource

Phenotypic and genotypic heterogeneity in gaucher disease: Implications for genetic counseling (1994)

Sidransky, Ellen ; Ginns, Edward I.

Springer

Journal of genetic counseling 3 (1994), S. 13-22

add to mindlist on the mindlist

Details

ISSN: 1573-3599

Keywords: Gaucher disease ; genetic counseling ; genotype-phenotype correlation ; population screening

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine , Psychology

Notes: Abstract Genetic counseling for Gaucher disease is complicated by the vast degree of clinical heterogeneity encountered in the disorder. Recent advances in our understanding of the molecular genetics of Gaucher disease are particularly relevant to genetic counseling. Although the identification of mutations in the glucocerebrosidase gene has enabled genotypic screening of Gaucher patients, the ability to reliably predict patient outcome on the basis of DNA studies is often limited. An appreciation of both the spectrum of clinical manifestations in Gaucher patients and the limitations of the available genotypic information is necessary when counseling patients, families and at-risk individuals.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF01414603

Permalink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Paper (German National Licenses)

Fulltext

Electronic Resource

Brain grafts and Parkinson's disease (1991)

Freed, William J. ; Poltorak, Maciej ; Takashima, Hidetoshi ; [et al.]

New York, N.Y. : Wiley-Blackwell

Journal of Cellular Biochemistry 45 (1991), S. 261-267

add to mindlist on the mindlist

Details

ISSN: 0730-2312

Keywords: tissue transplantation ; catecholamines ; dopamine ; L-DOPA ; genetic engineering ; Life and Medical Sciences ; Cell & Developmental Biology

Source: Wiley InterScience Backfile Collection 1832-2000

Topics: Biology , Chemistry and Pharmacology , Medicine

Notes: In animal models, grafts derived from several different tissues, principally fetal substantia nigra and adrenal medulla from young adults, have been found to be effective in alleviating some of the manifestations of lesions of the substantia nigra. It has been suggested that these grafts function by diffusely secreting dopamine, by exerting trophic effects on the host brain, or by producing a new innervation of the host corpus striatum. Evidence for each of these modes of action is briefly reviewed. Several brain tissue transplantation techniques have been described. Each of these techniques has significant limitations in animal models. The significance of these limitations for human application is described, and possibilities for improving the efficacy of brain tissue transplantation in animal models and for human application are discussed.