NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799845
Reference36 articles.
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3. Christodoulou J, Petrova-Benedict R, Robinson BH, Jay V, Clarke JTR (1993) An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency.Eur J Pediatr 152: 428–432.
4. Fischer JC, Ruitenbeek W, Stadhouders AM, et al (1985) Investigation of mitochondrial metabolism in small human skeletal muscle biopsy specimens. Improvement of preparation procedure.Clin Chim Acta 145: 89–94.
5. Fujii T, Masotoshi I, Takehiko O, Mutoh K, Nishimomoni R, Mikawa H (1990) Complex I (reduced nicotinamide adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome.J Pediatr 116: 84–87.
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