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Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis, INCL: morphological aspects.

作者信息

Rapola J, Salonen R, Ammälä P, Santavuori P

机构信息

Department of Pathology, University of Helsinki, Finland.

出版信息

J Inherit Metab Dis. 1993;16(2):349-52. doi: 10.1007/BF00710281.

DOI:10.1007/BF00710281
PMID:8411996
Abstract
摘要

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Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis, INCL: morphological aspects.婴儿神经元蜡样脂褐质沉积症（INCL）的产前诊断：形态学方面
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Prenatal diagnosis of lysosomal storage diseases.溶酶体贮积症的产前诊断
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本文引用的文献

1
Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of neuronal ceroid lipofuscinoses.直肠黏膜抽吸活检在婴儿型和青少年型神经元蜡样脂褐质沉积症诊断中的应用
Hum Pathol. 1984 Apr;15(4):352-60. doi: 10.1016/s0046-8177(84)80034-9.
2
Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies.所谓婴儿型神经元蜡样脂褐质沉积症。组织学和电子显微镜研究。
Acta Neuropathol. 1973 Oct 11;26(2):157-70. doi: 10.1007/BF00697751.
3
Cytoplasmic inclusions in the vermiform appendix and skeletal muscle in two types of so-called neuronal ceroid-lipofuscinosis.
Brain. 1973 Dec;96(4):833-40. doi: 10.1093/brain/96.4.833.
4
Prenatal diagnosis of G M1 -gangliosidosis.
N Engl J Med. 1973 Feb 1;288(5):225-8. doi: 10.1056/NEJM197302012880502.
5
Neuronal ceroid-lipofuscinoses in childhood.儿童期神经元蜡样脂褐质沉积症
Brain Dev. 1988;10(2):80-3. doi: 10.1016/s0387-7604(88)80075-5.
6
Placental pathology and prenatal diagnosis of infantile type of neuronal ceroid-lipofuscinosis.婴儿型神经元蜡样脂褐质沉积症的胎盘病理学及产前诊断
Am J Med Genet Suppl. 1988;5:99-103. doi: 10.1002/ajmg.1320310613.
7
Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi.
Prenat Diagn. 1990 Sep;10(9):553-9. doi: 10.1002/pd.1970100902.
8
Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus.婴儿神经元蜡样脂褐质沉积症（CLN1）：芬兰人群中的连锁不平衡以及变异型晚发性婴儿型（变异型CLN2）代表一个非等位基因位点的证据。
Genomics. 1991 Jun;10(2):333-7. doi: 10.1016/0888-7543(91)90316-7.
9
DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1).
Prenat Diagn. 1991 May;11(5):323-8. doi: 10.1002/pd.1970110508.
10
Morphology of the placenta in fetal I-cell disease.胎儿I细胞病中胎盘的形态学
Clin Genet. 1977 Feb;11(2):107-13. doi: 10.1111/j.1399-0004.1977.tb01286.x.