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I-cell disease

Published:1984-09 Issue:3 Volume:64 Page:234-242
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Martin J. J.,Leroy J. G.,van Eygen M.,Ceuterick C.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1007/BF00688114.pdf

Reference20 articles.

1. Aula P, Rapola J, Autio S, Raivio K Karjalainen O (1975) Prenatal diagnosis and fetal pathology of I-Cell disease (mucolipidosis type II). J Pediatr 87:221?226

2. Ghadially FN (1975) Ultrastructural pathology of the cell. Butterworths, London

3. Gilbert EF, Dawson G, Zu Rhein GM, Opitz JM, Spranger JW (1973) I-Cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases. Z Kinderheilkd 114:259?292

4. Hasilik A, Waheed A, von Figura K (1981) Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine; absence of the activity in I-Cell fibroblasts. Biochem Biophys Res Commun 98:761?767

5. Landing BH, Silverman FN, Craig JM, Jacobi MD, Lahey NE, Chadwick DL (1964) Familial neurovisceral lipidosis. An alysis of eight cases of a syndrome previously reported as ?Hurler-Variant?, ?pseudo-Hurler? and ?Tay-Sachs disease with visceral involvement?. Am J Dis Child 108:503?522

Cited by 37 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. CNS Manifestations in Mucolipidosis Type II—A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients;Journal of Clinical Medicine;2023-06-18

2. Mucolipidosis Type II Affecting 1 Fetus and Placental Disk of a Dichorionic-Diamnionic Twin Gestation;International Journal of Gynecological Pathology;2019-07

3. Hypoyelination in I-cell disease; MRI, MR spectroscopy and neuropathological correlation;Brain and Development;2012-10

4. Lysosomal dysfunction causes neurodegeneration in mucolipidosis II ‘knock-in’ mice;Brain;2012-08-29

5. Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes;Molecular Biology of the Cell;2011-04-15

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