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A second case in the same family of congenital familial cerebral lipoidosis resembling amaurotic family idiocy.

作者信息

BROWN N J, CORNER B D, DODGSON M C

出版信息

Arch Dis Child. 1954 Feb;29(143):48-54. doi: 10.1136/adc.29.143.48.

DOI:10.1136/adc.29.143.48
PMID:13149199
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2011538/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1da/2011538/09d129d24b4c/archdisch01640-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1da/2011538/41de8f5fc952/archdisch01640-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1da/2011538/f401e62f7ed8/archdisch01640-0058-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1da/2011538/3b151d3a6da7/archdisch01640-0059-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1da/2011538/20df557de150/archdisch01640-0059-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1da/2011538/48a64af3ae36/archdisch01640-0059-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1da/2011538/09d129d24b4c/archdisch01640-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1da/2011538/41de8f5fc952/archdisch01640-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1da/2011538/f401e62f7ed8/archdisch01640-0058-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1da/2011538/3b151d3a6da7/archdisch01640-0059-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1da/2011538/20df557de150/archdisch01640-0059-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1da/2011538/48a64af3ae36/archdisch01640-0059-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1da/2011538/09d129d24b4c/archdisch01640-0060-a.jpg

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Arch Dis Child. 1954 Feb;29(143):48-54. doi: 10.1136/adc.29.143.48.
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本文引用的文献

1
Some effects of ionizing radiation and metabolic inhibition on the developing mammalian nervous system.电离辐射和代谢抑制对发育中的哺乳动物神经系统的一些影响。
J Pediatr. 1952 Apr;40(4):489-513. doi: 10.1016/s0022-3476(52)80215-x.
Nat Rev Neurol. 2019 Mar;15(3):161-178. doi: 10.1038/s41582-019-0138-8.
4
Analysis of NCL Proteins from an Evolutionary Standpoint.从进化角度分析 NCL 蛋白。
Curr Genomics. 2008 Apr;9(2):115-36. doi: 10.2174/138920208784139573.
5
Histochemical study of the brain in an atypical case of amaurotic idiocy.黑蒙性白痴非典型病例的脑组化研究。
Acta Neuropathol. 1961 May 30;1:73-84. doi: 10.1007/BF00690479.
6
[Expansive psychosis in familial juvenile amaurotic idiocy with protracted course].[伴有病程迁延的家族性少年黑蒙性白痴中的膨胀性精神病]
Dtsch Z Nervenheilkd. 1959;179(3):232-51.
7
Histochemical studies on the cerebral lipidoses and other cellular metabolic disorders.关于脑脂质沉积症及其他细胞代谢紊乱的组织化学研究。
Am J Pathol. 1957 Jan-Feb;33(1):1-12.
8
[Histochemical studies on primary lipoidoses: amaurotic idiocy, gargoylism, Niemann-Pick's disease, Gaucher's diseases with special reference to the central nervous system].[原发性类脂沉积症的组织化学研究:黑蒙性白痴、脂肪软骨营养不良、尼曼-匹克病、高雪氏病,特别涉及中枢神经系统]
Virchows Arch Pathol Anat Physiol Klin Med. 1954;326(1):89-118. doi: 10.1007/BF02438653.
9
[The amaurotic idiocies: correlation between biochemical data and clinical courses].[黑蒙性白痴:生化数据与临床病程之间的相关性]
Dtsch Z Nervenheilkd. 1968;194(3):187-218.
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[The myoclonic variants of familial amaurotic idiocy].[家族性黑蒙性白痴的肌阵挛变体]
Humangenetik. 1968;5(2):119-64. doi: 10.1007/BF00278672.