Create issue ticket

196 Possible Causes for thoene

  • Tuberculosis

    Thoen, C. O. 1994 . Tuberculosis in wild and domestic mammals, p. 157 -162. In B. R. Bloom (ed.), Tuberculosis: pathogenesis, protection, and control.[dx.doi.org] ., Thoen, C. O., and Andrews R., Jr. (1997). Identification of Mycobacterium paratuberculosis gene expression signals. Microbiol. 143 , 921–928.[dx.doi.org]

  • Cystinosis

    Thoene). Author Affiliations From the Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Md.[doi.org] Mol Genet Metab. 1999; 67 :283–93. [ PubMed : 10444339 ] Thoene JG. Cystinosis.[ncbi.nlm.nih.gov] Thoene, M.D., and Jerry A. Schneider, M.D. Cystinosis, a rare autosomal recessive lysosomal storage disease, is due to impaired transport of cystine from lysosomes.[doi.org]

  • Juvenile Cystinosis

    Google Scholar Gahl WA, Schneider JA, Thoene JG (2002) Cystinosis. N Engl J Med 347(2): 111–121.[link.springer.com] Thoene). Author Affiliations From the Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Md.[nejm.org] Gahl WA, Thoene JG,Schneider JA. Cystinosis. N Engl J Med 2002;347:111-121. Kumar A, Bachhawat AK.[en.wikipedia.org]

  • Chromophobe Renal Cell Carcinoma

    Abstract Chromophobe renal cell carcinoma was described by Thoenes et al. in 1986, and associations with carcinoma of collecting ducts, conventional renal cell carcinoma and[ncbi.nlm.nih.gov] Discussion CRCC, which is a rarely-seen renal tumor, was described by Thoenes et al. in 1985 [2].[casereports.in] First time chromophobe renal cell carcinoma was described in 1985 by Thoenes (7).[czytelniamedyczna.pl]

  • Valinemia

    411-1222 TTY: (866) 411-1010 Email: [email protected] For information about clinical trials sponsored by private sources, contact: www.centerwatch.com References TEXTBOOK Thoene[rarediseases.org]

  • Proximal Renal Tubular Acidosis

    Thoene). Author Affiliations From the Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Md.[doi.org] Gahl WA, Thoene JG, Schneider JA (2002). "Cystinosis" . N. Engl. J. Med . 347 (2): 111–21. doi : 10.1056/NEJMra020552 . PMID 12110740 .[ipfs.io] Thoene, M.D., and Jerry A. Schneider, M.D. Cystinosis, a rare autosomal recessive lysosomal storage disease, is due to impaired transport of cystine from lysosomes.[doi.org]

  • Ear - Patella - Short Stature Syndrome

    .; Thoen, E.; Skaar, I.; Bulone, V.; Dorrestein, P.C.; Raaijmakers, J.M.; de Bruijn, I. , 2016: Diversity of Aquatic Pseudomonas Species and Their Activity against the Fish[wwe.geoscience.net]

  • Nephropathic Cystinosis

    Langman CB 1 , Barshop BA 2 , Deschênes G 3 , Emma F 4 , Goodyer P 5 , Lipkin G 6 , Midgley JP 7 , Ottolenghi C 8 , Servais A 9 , Soliman NA 10 , Thoene JG 11 , Levtchenko[ncbi.nlm.nih.gov] 病因遺伝子 CTNS; cystinosin [HSA: 1497 ] [KO: K12386 ] 治療薬 システアミン酒石酸塩 [DR: D10468 ] リンク ICD-11: 5C60.1 ICD-10: E72.0 MeSH: D003554 OMIM: 219800 219900 219750 文献 PMID: 932205 著者 Thoene[genome.jp] Park MA, Thoene JG. Potential role of apoptosis in development of the cystinotic phenotype. Pediatr Nephrol 2005;20:441-6. [Pubmed] 18.[nefrologiaaldia.org]

  • Primary Fanconi Syndrome

    ., Thoene, J. G., Schulman, J. D., Rizzo, W. B., Jonas, A. J., ... & Schneider, J. A. (1987). Cysteamine therapy for children with nephropathic cystinosis.[dovemed.com] Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med . 2002;347:111-121. 20. Quinn A, Sinert R.[uspharmacist.com]

  • Biotin-Responsive Basal Ganglia Disease

    Thoene Cambridge University Press , 23.08.2010 - 238 Seiten This book summarizes the substantial work that has been accomplished in the treatment of inborn errors of metabolism[books.google.de]

Further symptoms