메뉴 건너뛰기




Volumn 40, Issue 4, 2005, Pages 512-517

Achalasia as the harbinger of a novel mitochondrial disorder in childhood

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; PILOCARPINE;

EID: 16844377409     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.MPG.0000155185.38754.EE     Document Type: Article
Times cited : (8)

References (23)
  • 1
    • 0022931241 scopus 로고
    • Achalasia and other diseases associated with disorders of gastrointestinal motility
    • Mayberry J, Atkinson M. Achalasia and other diseases associated with disorders of gastrointestinal motility. Hepatogastroenterol 1986;33:206-7.
    • (1986) Hepatogastroenterol , vol.33 , pp. 206-207
    • Mayberry, J.1    Atkinson, M.2
  • 2
    • 0029817471 scopus 로고    scopus 로고
    • Allgrove syndrome: Documenting cholinergic dysfunction by autonomic tests
    • Chu ML, Berlin D, Axelrod FB. Allgrove syndrome: documenting cholinergic dysfunction by autonomic tests. J Pediatr 1996;129:156-9.
    • (1996) J Pediatr , vol.129 , pp. 156-159
    • Chu, M.L.1    Berlin, D.2    Axelrod, F.B.3
  • 3
    • 0015014451 scopus 로고
    • Autosomal recessive deafness associated with short stature, vitiligo, muscle wasting and achalasia
    • Rozycki D, Ruben R, Rapin I, Spiro A. Autosomal recessive deafness associated with short stature, vitiligo, muscle wasting and achalasia. Arch Otolaryngol 1971;93:194-7.
    • (1971) Arch Otolaryngol , vol.93 , pp. 194-197
    • Rozycki, D.1    Ruben, R.2    Rapin, I.3    Spiro, A.4
  • 4
    • 0008332546 scopus 로고
    • Understanding and managing achalasia of the esophagus
    • Lipshutz W. Understanding and managing achalasia of the esophagus. Practical Gastroenterology 1979;3:21-5.
    • (1979) Practical Gastroenterology , vol.3 , pp. 21-25
    • Lipshutz, W.1
  • 5
    • 0026697044 scopus 로고
    • Distal small fiber neuropathy: Results of tests of sweating and autonomic cardiovascular reflexes
    • Stewart J, Low P, Fealey R. Distal small fiber neuropathy: results of tests of sweating and autonomic cardiovascular reflexes. Muscle Nerve 1992;15:661-5.
    • (1992) Muscle Nerve , vol.15 , pp. 661-665
    • Stewart, J.1    Low, P.2    Fealey, R.3
  • 6
    • 0002575313 scopus 로고
    • The Valsalva maneuver
    • Low P, ed. Boston: Little, Brown and Co.
    • Benarroch E, Sandroni P, Low P. The Valsalva maneuver. In: Low P, ed. Clinical Autonomic Disorders, Vol. 1. Boston: Little, Brown and Co, 1993:209-15.
    • (1993) Clinical Autonomic Disorders , vol.1 , pp. 209-215
    • Benarroch, E.1    Sandroni, P.2    Low, P.3
  • 7
    • 0008248920 scopus 로고
    • Syncope: Mechanisms, approach, and management
    • Low P, ed. Boston: Little, Brown and Co.
    • Shen W, Gersh B. Syncope: mechanisms, approach, and management. In: Low P, ed. Clinical Autonomic Disorders, Vol. 1. Boston: Little, Brown and Co, 1993:605-40.
    • (1993) Clinical Autonomic Disorders , vol.1 , pp. 605-640
    • Shen, W.1    Gersh, B.2
  • 8
    • 0001928477 scopus 로고
    • Idiopathic postural tachycardia syndrome
    • Low P, ed. Boston: Little, Brown and Co.
    • Schondorf R, Low P. Idiopathic postural tachycardia syndrome. In: Low P, ed. Clinical Autonomic Disorders, Vol. 1. Boston: Little, Brown and Co, 1993:641-52.
    • (1993) Clinical Autonomic Disorders , vol.1 , pp. 641-652
    • Schondorf, R.1    Low, P.2
  • 9
    • 0021089785 scopus 로고
    • Quantitative sudomotor axon reflex in normal and neuropathic subjects
    • Low PA, Caskey PE, Tuck RR, Fealey RD, Dyck PJ. Quantitative sudomotor axon reflex in normal and neuropathic subjects. Ann Neurol 1983;14:573-80.
    • (1983) Ann Neurol , vol.14 , pp. 573-580
    • Low, P.A.1    Caskey, P.E.2    Tuck, R.R.3    Fealey, R.D.4    Dyck, P.J.5
  • 10
    • 0001821386 scopus 로고
    • The thermoregulatory sweat test
    • Low P, ed. Boston: Little Brown and Co.
    • Fealey R. The thermoregulatory sweat test. In: Low P, ed. Clinical Autonomic Disorders, Vol. 1. Boston: Little Brown and Co, 1993:17-229.
    • (1993) Clinical Autonomic Disorders , vol.1 , pp. 17-229
    • Fealey, R.1
  • 11
    • 0006981945 scopus 로고
    • Autonomic disorders of the pupil, ciliary body, and lacrimal apparatus
    • Low P, ed. Boston: Little, Brown and Co.
    • Cross S. Autonomic disorders of the pupil, ciliary body, and lacrimal apparatus. In: Low P, ed. Clinical Autonomic Disorders, Vol. 1. Boston: Little, Brown and Co, 1993:263-77.
    • (1993) Clinical Autonomic Disorders , vol.1 , pp. 263-277
    • Cross, S.1
  • 12
    • 0028301915 scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disease
    • Hirano M, Silvestri G, Lombes A, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disease. Neurology 1994;44:721-7.
    • (1994) Neurology , vol.44 , pp. 721-727
    • Hirano, M.1    Silvestri, G.2    Lombes, A.3
  • 13
    • 0032731422 scopus 로고    scopus 로고
    • Extraesophageal autonomic dysfunction in patients with achalasia
    • Olk W, Kiesewalter B, Auer P, et al. Extraesophageal autonomic dysfunction in patients with achalasia. Dig Dis Sci 1999;44:2088-93.
    • (1999) Dig Dis Sci , vol.44 , pp. 2088-2093
    • Olk, W.1    Kiesewalter, B.2    Auer, P.3
  • 14
    • 0034030171 scopus 로고    scopus 로고
    • Cardiovascular autonomic function in patients with primary achalasia
    • Rinaldi R, Cortelli P, Di Simone MP, et al. Cardiovascular autonomic function in patients with primary achalasia. Dig Dis Sci 2000;45:825-9.
    • (2000) Dig Dis Sci , vol.45 , pp. 825-829
    • Rinaldi, R.1    Cortelli, P.2    Di Simone, M.P.3
  • 17
    • 0023788363 scopus 로고
    • Familial achalasia, microcephaly, and mental retardation. Case report and review of the literature
    • Khalifa M. Familial achalasia, microcephaly, and mental retardation. Case report and review of the literature. Clin Pediatr 1988;27:509-12.
    • (1988) Clin Pediatr , vol.27 , pp. 509-512
    • Khalifa, M.1
  • 18
    • 16844387189 scopus 로고    scopus 로고
    • Mitochondrial neurogastrointestinal encephalopathy (MNGIE) presenting with autonomic dysfunction: A family case report
    • Chelimsky G, Czinn S, Chelimsky T. Mitochondrial neurogastrointestinal encephalopathy (MNGIE) presenting with autonomic dysfunction: a family case report. Clin Autonom Res 2000;10:249-50.
    • (2000) Clin Autonom Res , vol.10 , pp. 249-250
    • Chelimsky, G.1    Czinn, S.2    Chelimsky, T.3
  • 20
    • 0030437124 scopus 로고    scopus 로고
    • Gastrointestinal dysfunction in autonomic neuropathy
    • Chelimsky G, Wszolek Z, Chelimsky T. Gastrointestinal dysfunction in autonomic neuropathy. Semin Neurol 1996;16:259-68.
    • (1996) Semin Neurol , vol.16 , pp. 259-268
    • Chelimsky, G.1    Wszolek, Z.2    Chelimsky, T.3
  • 21
    • 0002629236 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathies
    • Rosenberg R, Prusiner S, DiMauro S, Barch R, eds. Boston: Butterworth-Heinemann
    • DiMauro S, Bonilla E. Mitochondrial encephalomyopathies. In: Rosenberg R, Prusiner S, DiMauro S, Barch R, eds. The Molecular and Genetic Basis of Neurologic disease. Boston: Butterworth-Heinemann, 1997:201-35.
    • (1997) The Molecular and Genetic Basis of Neurologic Disease , pp. 201-235
    • DiMauro, S.1    Bonilla, E.2
  • 22
    • 0033613865 scopus 로고    scopus 로고
    • Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
    • Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689-92.
    • (1999) Science , vol.283 , pp. 689-692
    • Nishino, I.1    Spinazzola, A.2    Hirano, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.