✦ LIBER ✦

A family with a mitochondrial encephalomyopathy due to complex-1 deficiency: NMR spectroscopy and mitochondrial DNA disturbances

✍ Scribed by Begeer, J.H.; Rutgers, A.W.F.; Smit, G.P.A.; le Coultre, R.; Ruitenbeek, W.; Agsteribbe, E.; Ruiters, M.H.J.; Mooyaart, E.L.; Kamman, R.L.; Molenaar, W.H.

Book ID: 122503254
Publisher: Elsevier Science
Year: 1991
Tongue: English
Weight: 220 KB
Volume: 93
Category: Article
ISSN: 0303-8467
DOI: 10.1016/0303-8467(91)90017-J

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Treatment of mitochondrial myopathy due

Treatment of mitochondrial myopathy due to complex III deficiency with vitamins K3 and C: A 31P-NMR follow-up study

✍ Dr Zohar Argov; William J. Bank; John Maris; Scott Eleff; Nancy G. Kennaway; Rob 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 490 KB 👁 1 views

Leigh syndrome associated with mitochond

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2

✍ Marin, Samantha E.; Mesterman, Ronit; Robinson, Brian; Rodenburg, Richard J.; Sm 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 199 KB

Clinical exome sequencing leads to the d

Clinical exome sequencing leads to the diagnosis of mitochondrial complex I deficiency in a family with global developmental delays, ataxia, and cerebellar and pons hypoplasia

✍ Kimonis, Virginia; Gonzalez, Kelly; Zeng, Wenqi; Gray, Phillip; Tang, Sha; Wei, 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 48 KB

Hyperornithinemia, hyperammonemia, and h

Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family

✍ Stanley H. Korman; Naomi Kanazawa; Bassam Abu-Libdeh; Alisa Gutman; Seiichi Tsuj 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 331 KB