Zobrazeno 1 - 10
of 681
pro vyhledávání: '"Pras, M."'
Publikováno v:
The Journal of Infectious Diseases, 1982 Sep 01. 146(3), 443-443.
Externí odkaz:
https://www.jstor.org/stable/30109587
Publikováno v:
Immunology. Sep74, Vol. 27 Issue 3, p469-478. 10p.
Autor:
Feliubadaló, L., Font, M., Purroy, J., Rousaud, F., Estivill, X., Nunes, V., Golomb, E., Centola, M., Aksentijevich, I., Kreiss, Y., Goldman, B., Pras, M., Kastner, D. L., Pras, E., Gasparini, P., Bisceglia, L., Beccia, E., Gallucci, M., Sanctis, L. d., Ponzone, A., Rizzoni, G. F., Zelante, L., Bassi, M. T., George, A. L., Manzoni, Marta, Grandi, A. D., Riboni, M., Endsley, J. K., Ballabio, A., Borsani, Giuseppe, Reig, N., Fernández, E., Estévez, R., Pineda, M., Torrents, D., Camps, M., Lloberas, J., Zorzano, A., Palacín, M., Consortium, I. C.
Publikováno v:
Nature Genetics. 23:52-57
Cystinuria (MIM 220100) is a common recessive disorder of renal reabsorption of cystine and dibasic amino acids. Mutations in SLC3A1, encoding rBAT, cause cystinuria type I (ref. 1), but not other types of cystinuria (ref. 2). A gene whose mutation c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa82241235f90cdf0e979c8dd36936f5
https://doi.org/10.1038/12652
https://doi.org/10.1038/12652
Publikováno v:
Clinical Nephrology. 62:226-228
IgA nephropathy is the most common primary glomerulopathy. Currently, no satisfactory treatment is available and as a result, a significant proportion of affected patients progress to end-stage renal disease. We present a patient with IgA nephropathy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::674120018473681c6549fca6cbfd8374
https://doi.org/10.5414/cnp62226
https://doi.org/10.5414/cnp62226
Autor:
Nelson, S.R., Pras, M.
Publikováno v:
Inherited Disorders of the Kidney: Investigation and Management.
Externí odkaz:
https://doi.org/10.1093/oso/9780192624734.003.0019
Autor:
Livneh, A., Drenth, J.P.H., Klasen, I.S., Langevitz, P., George, J., Shelton, D.A., Gumucio, D.L., Pras, E., Kastner, D.L., Pras, M.
Publikováno v:
The Journal of Rheumatology, 24, 8, pp. 1558-1563
The Journal of Rheumatology, 24, 1558-1563
The Journal of Rheumatology, 24, 1558-1563
Contains fulltext : 4939.pdf (Publisher’s version ) (Open Access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d4a9150dfbf264551c664f6cc898ccb3
https://hdl.handle.net/2066/15126
https://hdl.handle.net/2066/15126
Autor:
Pras E, Raben N, Golomb E, Nadir Arber, Aksentijevich I, Jm, Schapiro, Harel D, Katz G, Liberman U, Pras M
Publikováno v:
Europe PubMed Central
Cystinuria is an autosomal recessive disease characterized by the development of kidney stones. Guided by the identification of the SLC3A1 amino acid–transport gene on chromosome 2, we recently established genetic linkage of cystinuria to chromosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9b7c220f823ff1eba9b18989314dfb12
https://pubmed.ncbi.nlm.nih.gov/7539209
https://pubmed.ncbi.nlm.nih.gov/7539209
Autor:
Aksentijevich, I., Pras, E., Gruberg, L., Shen, Y., Holman, K., Helling, S., Prosen, L., Sutherland, G. R., Richards, R. I., Ramsburg, M., Michael Dean, Pras, M., Amos, C. I., Kastner, D. L.
Publikováno v:
Scopus-Elsevier
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by attacks of fever and serosal inflammation; the biochemical basis is unknown. We recently reported linkage of the gene causing FMF (designated "MEF") to two markers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3a72c13d4c01d6804a0d6ea471b4cb83
https://europepmc.org/articles/PMC1682355/
https://europepmc.org/articles/PMC1682355/
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