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Quoted phrase not found in phrase index: "Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome"
Page 1
Human alcohol-related neuropathology.
de la Monte SM, Kril JJ. de la Monte SM, et al. Acta Neuropathol. 2014 Jan;127(1):71-90. doi: 10.1007/s00401-013-1233-3. Epub 2013 Dec 27. Acta Neuropathol. 2014. PMID: 24370929 Free PMC article. Review.
In the mature brain, heavy chronic or binge alcohol exposures can cause severe debilitating diseases of the central and peripheral nervous systems, and skeletal muscle. Most commonly, long-standing heavy alcohol abuse leads to disproportionate loss of cerebral white mat …
In the mature brain, heavy chronic or binge alcohol exposures can cause severe debilitating diseases of the central and peripheral nervous s …
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine beta-Synthase Deficiency.
Sasai H, Shimozawa N, Asano T, Kawamoto N, Yamamoto T, Kimura T, Kawamoto M, Matsui E, Fukao T. Sasai H, et al. Tohoku J Exp Med. 2015 Dec;237(4):323-7. doi: 10.1620/tjem.237.323. Tohoku J Exp Med. 2015. PMID: 26639091 Free article.
Cystathionine beta-synthase (CBS) deficiency, well known as classical homocystinuria, is a rare autosomal recessive inborn error of homocysteine and sulfur metabolism. CBS converts homocysteine to cystathionine. The clinical features of untreated CBS deficiency include myo …
Cystathionine beta-synthase (CBS) deficiency, well known as classical homocystinuria, is a rare autosomal recessive inborn error of homocyst …
Application of NMR spectroscopy to monitoring MELAS treatment: a case report.
Möller HE, Wiedermann D, Kurlemann G, Hilbich T, Schuierer G. Möller HE, et al. Muscle Nerve. 2002 Apr;25(4):593-600. doi: 10.1002/mus.10084. Muscle Nerve. 2002. PMID: 11932978
1H magnetic resonance spectroscopy (MRS) of the brain and (31)P MRS and saturation transfer of resting skeletal muscle were used to investigate intracellular metabolites and fluxes through the creatine kinase (CK) reaction in a patient with the syndrome of mitochond …
1H magnetic resonance spectroscopy (MRS) of the brain and (31)P MRS and saturation transfer of resting skeletal muscle were used to i …