$author.xingMing_EN,$author.xingMing_EN,$author.xingMing_EN et al. Alpers-Huttenlocher syndrome caused by a novel compound hetero zygous mutation of POLG gene: a case report[J]. CJCP, 2017, 19(5): 498-501.
Harding BN. Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome):A personal review[J]. J Child Neurol, 1990, 5(4):273-287.
[2]
Egger J, Harding BN, Boyd SG, et al. Progressive neuronal degeneration of childhood (PNDC) with liver disease[J]. Clin Pediatr (Phila), 1987, 26(4):167-173.
[3]
Alpers BJ. Diffuse progressive degeneration of the gray matter of the cerebrum[J]. Arch Neurol Psychiatry, 1931, 25(3):469-505.
[4]
Huttenlocher PR, Solitare GB, Adams G. Infantile diffuse cerebral degeneration with hepatic cirrhosis[J]. Arch Neurol, 1976, 33(3):186-192.
[5]
Sandback U, Lerman P. Progressive cerebral poliodystrophy-Alpers' disease. Disorganized giant neuronal mitochondria on electron microscopy[J]. J Neurol Neurosurg Psychiatry, 1972, 35(6):749-755.
[6]
Ropp PA, Copeland WC. Cloning and characterization of the human mitochondrial DNA polymerase gamma[J]. Genomics, 1996, 36(3):449-458.
[7]
Naviaux RK, Nyhan WL, Barshop BA, et al. Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers syndrome[J]. Ann Neurol, 1999, 45(1):54-58.
[8]
Nguyen KV, Sharief FS, Chan SS, et al. Molecular diagnosis of Alpers syndrome[J]. J Hepatol, 2006, 45(1):108-116.
[9]
National Institute of Enviromental Health Sciences. Human DNA polymerase gamma mutation database[DB/OL].[2016-06-20].
[10]
Naviaux RK, Nguyen KV. POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion[J]. Ann Neurol, 2004, 55(5):706-712.
[11]
Tzoulis C, Engelsen BA, Telstad W, et a1. The spectrum of clinical disease caused by the A467T and W748S POLG mutations:A study of 26 eases[J]. Brain, 2006, 129(Pt 7):1685-1692.
Schwabe MJ, Dobyns WB, Burke B, et al. Valproate-induced liver failure in one of two siblings with Alpers disease[J]. Pediatr Neurol, 1997, 16(4):337-343.
[14]
Li S, Guo J, Yang Z, et al. Valproic acid-induced hepatotoxicity in Alpers syndrome is associated with mitochondrial permeability transition pore opening-dependent apoptotic sensitivity in an induced pluripotent stem cell model[J]. Hepatology, 2015, 61(5):1730-1739.
[15]
Enns GM, Kinsman SL, Perlman SL, et al. Initial experience in the treatment of inherited mitochondrial disease with EPI-743[J]. Mol Genet Metab, 2012, 105(1):91-102.
[16]
Safdar A, Bourgeois JM, Ogborn DI, et al. Endurance exercise rescues progeroid aging and induces systemic mitochondrial rejuvenation in mtDNA mutator mice[J]. Proc Natl Acad Sci U S A, 2011, 108(10):4135-4140.
