Results 1 -
10
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41
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new treatments
- ... GJ. Does the BRAF(V600E) mutation herald a new treatment era for Erdheim-Chester disease? A case-based ...
- ... S. C1 inhibitor: just a serine protease inhibitor? New and old considerations on therapeutic applications of C1 inhibitor. Expert Opin Biol Ther. ...
- ... a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis. 2011 Feb;34(1): ...
- ... S, Hortnagel K, Rust S, Marquardt T. A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach. J Inherit Metab Dis. 2015 Sep;38( ...
- ... Dysfunction of wild-type huntingtin in Huntington disease. News Physiol Sci. 2003 Feb;18:34-7. doi: 10.1152/nips.01410.2002. Citation on PubMed Gardian G, Vecsei L. Huntington's disease: pathomechanism and therapeutic perspectives. J Neural Transm (Vienna). 2004 Oct;111( ...
- ... maintaining pregnancy, bone formation, and the growth of new blood vessels (angiogenesis). At least 17 mutations in the F13B gene have been found to cause inherited factor XIII deficiency, a rare bleeding disorder. Without treatment, affected individuals have a greatly increased risk of ...
- ... maintaining pregnancy, bone formation, and the growth of new blood vessels (angiogenesis). At least 140 mutations in the F13A1 gene have been found to cause inherited factor XIII deficiency, a rare bleeding disorder. Without treatment, affected individuals have a greatly increased risk of ...
- ... mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. ... diagnosis, pathogenesis and treatment. Brain. 2007 Oct;130(Pt 10):2484-93. ...
- ... Grandchamp B, de Montalembert M, Tchernia G. Two new human DMT1 gene mutations in ... clinical presentation and treatment. Semin Hematol. 2009 Oct;46(4):358-70. ...
- ... on PubMed Trowbridge JM, Gallo RL. Dermatan sulfate: new ... and recommendations for treatment in the era of enzyme replacement therapy. Eur ...