Results 51 to 60 of about 2,988 (157)

Fluorescence-based diagnosis of lipid storage diseases by analysis of the culture medium of skin fibroblasts

, 1993
Glycosphingolipids, labeled with the fluorescent probe lissamine rhodamine were administered to skin fibroblasts in culture and were hydrolyzed in the intact cells to the corresponding lissamine rhodamine ceramide (Full-size image (
A. DAGAN, S. GATT, MONTI, Eugenio, V. AGMON, PRETI, Augusto, MARCHESINI, Sergio   +5 more
core   +1 more source

The frequency of lysosomal storage diseases in The Netherlands

, 1999
We have calculated the relative frequency and the birth prevalence of lysosomal storage diseases (LSDs) in The Netherlands based on all 963 enzymatically confirmed cases diagnosed during the period 1970-1996. The combined birth prevalence for all LSDs is
de Jong, J. G., Diggelen, O.P. van, Kleijer, W.J., Wevers, RA, Poorthuis, B. J., Poorthuis, BJHM, van Diggelen, OP, Weely, S. van, Wevers, R. A., Groener, J.E.M., Kleijer, W, Wevers, R.A., de Jong, JGN, van Weely, S., Groener, JEM, Niezen-Koning, K.E., Niezen-Koning, K. E., Groener, J. E., Poorthuis, B.J.H.M., van Diggelen, O. P., Jong, J.G.N. de, Diggelen, Otto, Kleijer, W. J., Kleijer, WJ, Groener, JEM (Johanna), Niezen-Koning, KE; id_orcid, van Weely, S, Niezen-Koning, KE   +27 more
core   +1 more source

Amiodarone and its desethyl metabolite: tissue distribution and morphologic changes during long-term therapy.

, 1985
The pharmacokinetic characteristics of amiodarone suggest extensive tissue deposition. We confirmed this by measuring tissue concentrations of the drug and of its major metabolite, desethylamiodarone, in human tissues. These were obtained at autopsy (n =
P C Adams, J Callaghan, G C Storey, D W Holt, A R Morley, R W Campbell   +5 more
core   +1 more source

Rare Infiltrative Lung Diseases: A Challenge for Clinicians.

, 2004
Rare diffuse infiltrative lung diseases are a challenge for clinicians, radiologists, and pathologists for at least three reasons: (a) their low incidence and prevalence hamper the acquisition of expertise and frequently the diagnosis is delayed; (b ...
Casoni, GL., Olivieri, D., Drent, M., Poletti, V., Costabel, U., Bigliazzi, C.   +5 more
core   +1 more source

Manifestações oculares dos disturbios do metabolismo: dislipidoses

, 2012
Lipídeos - gorduras Metabolismo dos lipoides Fosfatídeos Cerobrosídeos Colesterol Xantoma cutâneo - xantelasma Esteatose primitiva da córnea Arco senil - arco pressenil - arco juvenil Influência de fatores endocrínicos [endócrinos] sobre o metabolismo ...
Meyer, Corrêa
core  

Lipidoses

, 2005

core   +1 more source

The impact of consanguinity on the Indian population

, 2002
Numerous studies have been conducted by Indian anthropologists into the prevalence of both consanguineous and affinal marriage.1-3 and the topic of consanguinity continues to attract great attention among geneticists and social scientists.
Bittles, A.H.
core  

Cerebral Lipidoses [PDF]

Proceedings of the Association of Clinical Biochemists, 1961
openaire   +1 more source

Broken Balance: Emerging Cross-Talk Between Proteostasis and Lipostasis in Neurodegenerative Diseases. [PDF]

Cells
Tittelmeier J, Nussbaum-Krammer C.
europepmc   +1 more source

Case report: intracranial fungal granuloma in a dromedary (Camelus dromedarius). [PDF]

BMC Vet Res
Schmidt ML, Sickinger M, Rickerts V, McCormick-Smith I, Köhler K.   +4 more
europepmc   +1 more source