Zobrazeno 1 - 10
of 13
pro vyhledávání: '"N W, Barton"'
Autor:
W. Marg, F. Güttler, A. Joannard, P. Guiraud, N. W. Barton, A. Müller, M. J. Richard, T. Grisar, R. Reinsch, T. Tønnesen, A.-M. Gerdes, Nina Horn
Publikováno v:
Europe PubMed Central
Three female patients with Menkes syndrome are described. Clinically, they have typical Menkes syndrome. Biochemically, they have significantly increased 64Cu-uptake in cultured fibroblasts. The chromosomal analysis was normal for two of the patients
Publikováno v:
Clinical orthopaedics and related research. (362)
This study investigated 51 patients with Type 1 Gaucher's disease clinically and radiographically for the presence of osteonecrosis. Twenty-five female and 26 male patients with a mean age of 37 years were evaluated retrospectively for osteonecrosis
Autor:
Gioacchino Tedeschi, N J Patronas, Alessandro Bertolino, Simona Bonavita, Joseph A. Frank, N W Barton, Jeffry R. Alger, Raphael Schiffmann
OBJECTIVES—10 patients with Niemann-Pick disease type C (NP-C) were studied by proton magnetic resonance spectroscopic imaging (1H-MRSI) to assess the biochemical pathology of the brain and to determine whether this method can be useful to clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48b161c1ec145046ed4e29ce2cc8a66
http://hdl.handle.net/11591/192550
http://hdl.handle.net/11591/192550
Autor:
M, Horowitz, G, Tzuri, N, Eyal, A, Berebi, E H, Kolodny, R O, Brady, N W, Barton, A, Abrahamov, A, Zimran
Publikováno v:
American journal of human genetics. 53(4)
The frequency of nine different mutated alleles known to occur in the glucocerebrosidase gene was determined in 247 Gaucher patients, of whom 176 were of Jewish extraction, 2 were Jewish with one converted parent, and 69 were of non-Jewish origin. DN
Autor:
M R, Filling-Katz, J K, Fink, M B, Gorin, R, Caruso, J B, Carl, E J, Fitzgibbon, N W, Barton, N N, Katz
Publikováno v:
Metabolic, pediatric, and systemic ophthalmology (New York, N.Y. : 1985). 15(1-3)
Type B Niemann-Pick Disease (NPB) is a rare lysosomal storage disease resulting from diminished activity or deficiency of sphingomyelinase and is characterized by multi-system involvement with visceromegaly. Rare ocular involvement (the Macula Halo S
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry. 54(11)
A 29 year old male with onset of globoid cell leukodystrophy at age 14 is described. This is the first case of enzymatically confirmed globoid cell leukodystrophy with onset of symptoms after the age of ten. This patient is unique because of the late
Autor:
R. O. Brady, N. W. Barton
Publikováno v:
Lectins and Cancer ISBN: 9783642767418
As part of the requirement for completion of his medical education, the French medical student Philippe C. E. Gaucher wrote a thesis in 1882, in which he described a patient with an enlarged spleen that he believed was a primary epithelioma of that o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c86d8e4780c5aa73bb6450a8e648923
https://doi.org/10.1007/978-3-642-76739-5_17
https://doi.org/10.1007/978-3-642-76739-5_17
Autor:
M. R. Filling-Katz, N. W. Barton
Publikováno v:
Neurology. 42:1431-1431
Publikováno v:
American family physician. 13(4)
Autor:
N W, Barton, A, Rosenberg
Publikováno v:
The Journal of biological chemistry. 250(10)
Metabolic utilization of glucosyl [3H]ceramide (glucocerebroside) by human skin fibroblasts from normal and glucosylceramidotic subjects was examined in cell culture. Exogenous glucosyl [3H]ceramide in the culture medium did not influence activity of