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infantile hypertrophic neuropathy相关文献:
AARS2-Related Disorder.
Chmiela T, Wszolek ZK.
2024 Oct 31. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:39480987
Inherited peripheral neuropathy.
Keller MP, Chance PF.
Semin Neurol. 1999;19(4):353-62. doi: 10.1055/s-2008-1040850.
PMID:10716658
Myenteric plexus neuropathy in infantile hypertrophic pyloric stenosis.
Dieler R, Schröder JM.
Acta Neuropathol. 1989;78(6):649-61. doi: 10.1007/BF00691292.
PMID:2816307
A possible role of the plasmalemmal cytoskeleton, nitric oxide synthase, and innervation in infantile hypertrophic pyloric stenosis. A confocal laser scanning microscopic study.
Gentile C, Romeo C, Impellizzeri P, Turiaco N, Esposito M, Di Mauro D, Mondello MR.
Pediatr Surg Int. 1998 Nov;14(1-2):45-50. doi: 10.1007/s003830050433.
PMID:9880695
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.
Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Kraegeloh-Mann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, Freisinger P.
Neurology. 2001 Oct 23;57(8):1440-6. doi: 10.1212/wnl.57.8.1440.
PMID:11673586
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.
Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, Turki I, Castellana S, Mazza T, Valente EM, Gouider-Khouja N.
Eur J Neurol. 2015 Jan;22(1):178-86. doi: 10.1111/ene.12552. Epub 2014 Aug 27.
PMID:25164370
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.
Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan M, Ortez C, Nascimento A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Muñoz C, Muchart J, Huisman TAGM, Poretti A, Lupo V, Espinós C, Pérez-Dueñas B.
Parkinsonism Relat Disord. 2019 Apr;61:179-186. doi: 10.1016/j.parkreldis.2018.10.013. Epub 2018 Oct 13.
PMID:30340910
[An autopsy case of olivocerebellar and thalamic degeneration, diffuse sclerosis and hypertrophic neuropathy: infantile system degeneration? (author's transl)].
Oda M, Nagashima K, Konishi Y.
J Neurol. 1975 Dec 2;211(1):69-76. doi: 10.1007/BF00312465.
PMID:56433
Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy.
Omran H, Ketelsen UP, Heinen F, Sauer M, Rudnik-Schöneborn S, Wirth B, Zerres K, Kratzer W, Korinthenberg R.
J Child Neurol. 1998 Jul;13(7):327-31. doi: 10.1177/088307389801300704.
PMID:9701481
Hematopoietic cell transplantation ameliorates clinical phenotype and progression of the CNS pathology in the mouse model of late onset Krabbe disease.
Yagi T, Matsuda J, Tominaga K, Suzuki K, Suzuki K.
J Neuropathol Exp Neurol. 2005 Jul;64(7):565-75. doi: 10.1097/01.jnen.0000171646.01966.0c.
PMID:16042308
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