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The in-depth evaluation of suspected mitochondrial disease.
Mitochondrial Medicine Society's Committee on Diagnosis; Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK. Mitochondrial Medicine Society's Committee on Diagnosis, et al. Among authors: haas rh. Mol Genet Metab. 2008 May;94(1):16-37. doi: 10.1016/j.ymgme.2007.11.018. Epub 2008 Feb 1. Mol Genet Metab. 2008. PMID: 18243024 Free PMC article. Review.
Chronic treatment of mitochondrial disease patients with dichloroacetate.
Barshop BA, Naviaux RK, McGowan KA, Levine F, Nyhan WL, Loupis-Geller A, Haas RH. Barshop BA, et al. Among authors: haas rh. Mol Genet Metab. 2004 Sep-Oct;83(1-2):138-49. doi: 10.1016/j.ymgme.2004.06.009. Mol Genet Metab. 2004. PMID: 15464428 Clinical Trial.
Pyruvate carboxylase deficiency--insights from liver transplantation.
Nyhan WL, Khanna A, Barshop BA, Naviaux RK, Precht AF, Lavine JE, Hart MA, Hainline BE, Wappner RS, Nichols S, Haas RH. Nyhan WL, et al. Among authors: haas rh. Mol Genet Metab. 2002 Sep-Oct;77(1-2):143-9. doi: 10.1016/s1096-7192(02)00123-3. Mol Genet Metab. 2002. PMID: 12359142
Endocrine Disorders in Primary Mitochondrial Disease.
Al-Gadi IS, Haas RH, Falk MJ, Goldstein A, McCormack SE. Al-Gadi IS, et al. Among authors: haas rh. J Endocr Soc. 2018 Feb 19;2(4):361-373. doi: 10.1210/js.2017-00434. eCollection 2018 Apr 1. J Endocr Soc. 2018. PMID: 29594260 Free PMC article.
Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria.
Barshop BA, Nyhan WL, Naviaux RK, McGowan KA, Friedlander M, Haas RH. Barshop BA, et al. Among authors: haas rh. Mol Genet Metab. 2000 Jan;69(1):64-8. doi: 10.1006/mgme.1999.2946. Mol Genet Metab. 2000. PMID: 10655159
88 results