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Автор: Grafiati

Опубліковано: 10 грудня 2022

Оновлено: 29 січня 2023

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1

Millichap, J. Gordon. "Niemann-Pick Disease Type C." Pediatric Neurology Briefs 3, no. 9 (September 1, 1989): 68. http://dx.doi.org/10.15844/pedneurbriefs-3-9-7.

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2

Cobcroft, Ralph. "Type C Niemann-Pick disease." British Journal of Haematology 111, no. 3 (December 2000): 718. http://dx.doi.org/10.1046/j.1365-2141.2000.02536.x.

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3

Tarugi, Patrizia, Giorgia Ballarini, Bruno Bembi, Carla Battisti, Silvia Palmeri, Francesca Panzani, Enza Di Leo, Cristina Martini, Antonio Federico, and Sebastiano Calandra. "Niemann-Pick type C disease." Journal of Lipid Research 43, no. 11 (August 16, 2002): 1908–19. http://dx.doi.org/10.1194/jlr.m200203-jlr200.

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4

Cobcroft, Ralph. "Type C Niemann-Pick disease." British Journal of Haematology 111, no. 3 (December 2000): 718. http://dx.doi.org/10.1111/j.1365-2141.2000.02536.x.

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5

Yu, Daozhan, Manju Swaroop, Mengqiao Wang, Ulrich Baxa, Rongze Yang, Yiping Yan, Turhan Coksaygan, et al. "Niemann–Pick Disease Type C." Journal of Biomolecular Screening 19, no. 8 (June 6, 2014): 1164–73. http://dx.doi.org/10.1177/1087057114537378.

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Анотація:

Niemann–Pick disease type C (NPC) is a rare neurodegenerative disorder caused by recessive mutations in the NPC1 or NPC2 gene that result in lysosomal accumulation of unesterified cholesterol in patient cells. Patient fibroblasts have been used for evaluation of compound efficacy, although neuronal degeneration is the hallmark of NPC disease. Here, we report the application of human NPC1 neural stem cells as a cell-based disease model to evaluate nine compounds that have been reported to be efficacious in the NPC1 fibroblasts and mouse models. These cells are differentiated from NPC1 induced pluripotent stem cells and exhibit a phenotype of lysosomal cholesterol accumulation. Treatment of these cells with hydroxypropyl-β-cyclodextrin, methyl-β-cyclodextrin, and δ-tocopherol significantly ameliorated the lysosomal cholesterol accumulation. Combined treatment with cyclodextrin and δ-tocopherol shows an additive or synergistic effect that otherwise requires 10-fold higher concentration of cyclodextrin alone. In addition, we found that hydroxypropyl-β-cyclodextrin is much more potent and efficacious in the NPC1 neural stem cells compared to the NPC1 fibroblasts. Miglustat, suberoylanilide hydroxamic acid, curcumin, lovastatin, pravastatin, and rapamycin did not, however, have significant effects in these cells. The results demonstrate that patient-derived NPC1 neural stem cells can be used as a model system for evaluation of drug efficacy and study of disease pathogenesis.

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6

Elleder, M., A. Jirásek, F. Šmíd, J. Ledvinová, and G. T. N. Besley. "Niemann-Pick disease type C." Acta Neuropathologica 66, no. 4 (December 1985): 325–36. http://dx.doi.org/10.1007/bf00690966.

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7

Vanier, MT, and G. Millat. "Niemann-Pick disease type C." Clinical Genetics 64, no. 4 (September 15, 2003): 269–81. http://dx.doi.org/10.1034/j.1399-0004.2003.00147.x.

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8

Liscum, Laura, and Judeth J. Klansek. "Niemann–Pick disease type C." Current Opinion in Lipidology 9, no. 2 (April 1998): 131–35. http://dx.doi.org/10.1097/00041433-199804000-00009.

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9

Tohyama, Jun, Mitsuhiro Kato, Tatsuya Koeda, and Kousaku Ohno. "Type C Niemann-Pick disease." Brain and Development 15, no. 4 (July 1993): 316–17. http://dx.doi.org/10.1016/0387-7604(93)90033-5.

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10

Vanier, Marie. "Niemann-Pick disease type C." Molecular and Chemical Neuropathology 27, no. 1 (January 1996): 70–72. http://dx.doi.org/10.1007/bf02815049.

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11

Schiffmann, Raphael. "Niemann-Pick Disease Type C." JAMA 276, no. 7 (August 21, 1996): 561. http://dx.doi.org/10.1001/jama.1996.03540070057031.

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12

Palmer, Millicent. "Niemann-Pick Disease—Type C." Archives of Ophthalmology 103, no. 6 (June 1, 1985): 817. http://dx.doi.org/10.1001/archopht.1985.01050060077030.

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13

WALDRON, JAMES S., and ANDREW T. PARSA. "Hope For Niemann- Pick Type C Disease." Neurosurgery 55, no. 3 (September 2004): N8. http://dx.doi.org/10.1227/01.neu.0000309674.94569.14.

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14

Imrie, J., S. Vijayaraghaven, C. Whitehouse, S. Harris, L. Heptinstall, H. Church, A. Cooper, G. T. N. Besley, and J. E. Wraith. "Niemann-Pick disease type C in adults." Journal of Inherited Metabolic Disease 25, no. 6 (November 2002): 491–500. http://dx.doi.org/10.1023/a:1021259403196.

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15

Pentchev, Peter G., and Marc C. Patterson. "Diagnosis of Niemann-Pick disease type C." Journal of Pediatrics 124, no. 4 (April 1994): 655–56. http://dx.doi.org/10.1016/s0022-3476(05)83155-5.

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16

Vanier, M. T., P. Pentchev, C. Rodriguez-Lafrasse, and R. Rousson. "Niemann-Pick disease type C: An update." Journal of Inherited Metabolic Disease 14, no. 4 (July 1991): 580–95. http://dx.doi.org/10.1007/bf01797928.

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17

Patterson, Marc C., and Frances Platt. "Therapy of Niemann–Pick disease, type C." Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1685, no. 1-3 (October 2004): 77–82. http://dx.doi.org/10.1016/j.bbalip.2004.08.013.

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18

Omarini, L. P. A., S. E. Frank-Burkhardt, T. A. Seemayer, G. Mentha, and F. Terrier. "Niemann-Pick disease type C: nodular splenomegaly." Abdominal Imaging 20, no. 2 (March 1995): 157–60. http://dx.doi.org/10.1007/bf00201528.

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19

Lossos, Alexander. "Adult-Onset Niemann-Pick Type C Disease." Archives of Neurology 54, no. 12 (December 1, 1997): 1536. http://dx.doi.org/10.1001/archneur.1997.00550240084016.

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20

Patterson, Marc C., Colette C. Parker, and Joseph J. Parisi. "Demyelination in niemann-pick disease, type C." Pediatric Neurology 11, no. 2 (September 1994): 123. http://dx.doi.org/10.1016/0887-8994(94)90293-3.

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21

Steven, LC, and CP Driver. "Niemann-Pick Disease Type C and Crohn's Disease." Scottish Medical Journal 50, no. 2 (May 2005): 80–81. http://dx.doi.org/10.1177/003693300505000213.

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Анотація:

A five year old girl with Neimann-Pick disease type C subsequently developed Crohn's Disease. This association has only been presented once previously in the literature. This report discusses the options for managing one chronic disease in the presence of another life limiting condition.

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22

Nixon, Ralph A. "Niemann-Pick Type C Disease and Alzheimer's Disease." American Journal of Pathology 164, no. 3 (March 2004): 757–61. http://dx.doi.org/10.1016/s0002-9440(10)63163-x.

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23

Tumer, Leyla, Asburce Olgac, Gursel Biberoglu, Sinan Sari, Buket Dalgic, and Alev Hasanoglu. "Isovaleric acidemia and Niemann–Pick disease type C coexistence and new mutation for Niemann–Pick disease type C." Molecular Genetics and Metabolism 114, no. 2 (February 2015): S117—S118. http://dx.doi.org/10.1016/j.ymgme.2014.12.270.

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24

Kim, Sun-Jung, Joon-Suk Park, and Kyung-Sun Kang. "Stem Cells in Niemann-Pick Disease." Disease Markers 24, no. 4-5 (2008): 231–38. http://dx.doi.org/10.1155/2008/389815.

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Анотація:

Neural stem cells are multi-potent and able to self renew to maintain its character throughout the life. Loss of self renewal ability of stem cells prevents recovery or replacement of cells damaged by disease with new cells. The Niemann-Pick type C1 (NPC1) disease is one of the neurodegenerative diseases, caused by a mutation of NPC1 gene which affects the function of NPC1 protein. We reported that NPC 1 gene deficiency could lead to lack of the self renewal ability of neural stem cells in Niemann pick type C disease. We also investigated many genes which are involved in stem cells proliferation and differentiation by gene profile in NPC mice.Diagnosis of NPC disease is difficult because it is accompanied by complicated symptoms and the fact that there is no effective treatment for NPC patients. Studies of these stem cells and their relationship to Niemann pick type C disease will provide new biomarkers for early diagnosis as well as a potential cure by use of targeted therapeutics for Niemann pick type C disease.

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25

Zakharova, E. Yu, S. V. Mikhailova, T. Yu Proshlyakova, and G. E. Rudenskaya. "CLINICAL AND GENETIC SPECIAL FEATURES OF NIEMANN-PICK DISEASE, TYPE C." Annals of the Russian academy of medical sciences 67, no. 12 (December 10, 2012): 60–65. http://dx.doi.org/10.15690/vramn.v67i12.483.

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Анотація:

Niemann-Pick disease, type C is a rare hereditary disorder of the group of lisosomal storage diseases, caused by mutations in the genes NPC1 or NPC2. Depending on the onset age, several clinical forms of this disease, which differs by manifestation age, main clinical signs and clinical course, are distinguished. Niemann-Pick disease type C can imitate other hereditary and acquired diseases, which complicates its early diagnostics. Clinical and genetic diversity of this disorder, considered on the clinical cases diagnosed at the FSI «RCMG» of RAMS, are discussed in this review.

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26

Sitarska, Dominika, Anna Tylki-Szymańska, and Agnieszka Ługowska. "Treatment trials in Niemann-Pick type C disease." Metabolic Brain Disease 36, no. 8 (October 1, 2021): 2215–21. http://dx.doi.org/10.1007/s11011-021-00842-0.

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Анотація:

AbstractNiemann-Pick type C (NPC) disease is a genetically determined neurodegenerative metabolic disease. It belongs to the lysosomal storage diseases and its main cause is impaired cholesterol transport in late endosomes or lysosomes. It is an autosomal recessive inherited disease that results from mutations in the NPC1 or NPC2 genes. The treatment efforts are focused on the slowing its progression. The only registered drug, devoted for NPC patients is Miglustat. Effective treatment is still under development. NPC disease mainly affects the nervous system, and the crossing of the blood–brain barrier by medicines is still a challenge, therefore the combination therapies of several compounds are increasingly being worked on. The aim of this paper is to present the possibilities in treatment of Niemann-Pick type C disease. The discussed research results relate to animal studies.

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27

Tangde, Ashwini, Shubhajyoti Pore, Anjali Kulkarni, Anil Joshi, and Rajan Bindu. "Niemann-pick disease type A-a case report." International Journal of Research in Medical Sciences 6, no. 1 (December 23, 2017): 366. http://dx.doi.org/10.18203/2320-6012.ijrms20175752.

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Niemann-Pick Disease is an autosomal recessive disorder of infancy, characterized by failure to thrive, hepatosplenomegaly and neurodegenerative changes. It is caused by inherited deficiency of an enzyme, acid sphingomyelinase. It leads to deposition of sphingomyelin and cholesterol within the lysosome of reticuloendothelial cells of various organs. Niemann-Pick Disease is classified into four types such as A, B, C and D. We present a case of niemann-pick disease type A. This case report encompasses an 18-month-old male child brought with complaints of progressive abdominal distension, developmental delay, intermittent fever and excessive cry. On examination patient had developmental delay and significant abdominal distension with moderate hepatosplenomegaly. Bone marrow examination showed characteristic lipid laden foamy histiocytes termed as niemann pick cells and sea blue histiocytes. Later on, liver biopsy and splenic aspiration cytology was performed, which also showed same type of foamy cells. Type A is very rare and a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age. No treatment available for type A so far. It’s a rare disease in India. Genetic counseling.

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28

Patel, Aanand A., Anthony Sisk, and Jonathan E. Zuckerman. "Niemann-Pick disease type C with kidney involvement." Human Pathology: Case Reports 23 (March 2021): 200486. http://dx.doi.org/10.1016/j.ehpc.2021.200486.

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29

Novikova, E. S., A. S. Kotov, Yu Yu Kotalevskaya, L. Yu Glukhova, M. S. Bunak, and N. A. Semenova. "Niemann—Pick type C disease in a child." Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova 117, no. 11 (2017): 62. http://dx.doi.org/10.17116/jnevro201711711262-66.

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30

Platt, Nick, Annelise O. Speak, Alexandria Colaco, James Gray, David A. Smith, Ian M. Williams, Kerri-Lee Wallom, and Frances M. Platt. "Immune dysfunction in Niemann-Pick disease type C." Journal of Neurochemistry 136 (June 4, 2015): 74–80. http://dx.doi.org/10.1111/jnc.13138.

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31

Twarling, Ann, Kim Michael, and Jody Berg. "Sonographic Evaluation of Niemann-Pick Disease Type C." Journal of Diagnostic Medical Sonography 20, no. 3 (June 2004): 198–201. http://dx.doi.org/10.1177/8756479304265036.

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32

Fink, J. K., M. R. Filling-Katz, J. Sokol, D. G. Cogan, A. Pikus, B. Sonies, B. Soong, et al. "Clinical spectrum of Niemann-Pick disease type C." Neurology 39, no. 8 (August 1, 1989): 1040. http://dx.doi.org/10.1212/wnl.39.8.1040.

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33

SULLIVAN, DANNY, MARK WALTERFANG, and DENNIS VELAKOULIS. "Bipolar Disorder and Niemann-Pick Disease Type C." American Journal of Psychiatry 162, no. 5 (May 2005): 1021—a—1022. http://dx.doi.org/10.1176/appi.ajp.162.5.1021-a.

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34

Love, Seth, Leslie R. Bridges, and C. Patrick Case. "Neurofibrillary tangles in Niemann—Pick disease type C." Brain 118, no. 1 (February 1995): 119–29. http://dx.doi.org/10.1093/brain/118.1.119.

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35

Patterson, Marc C., and Steven U. Walkley. "Niemann-Pick disease, type C and Roscoe Brady." Molecular Genetics and Metabolism 120, no. 1-2 (January 2017): 34–37. http://dx.doi.org/10.1016/j.ymgme.2016.11.008.

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36

Al Menabawy, Nihal M., Iman G. Mahmoud, Nour M. EL Khateeb, Ahmed M. Sobhy, Maha S. Zaki, Joseph Gleeson, Arndt Rolfs, and Laila A. Selim. "Niemann-Pick disease type C: a diagnostic challenge." Molecular Genetics and Metabolism 120, no. 1-2 (January 2017): S19. http://dx.doi.org/10.1016/j.ymgme.2016.11.016.

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37

Schedin, Sophia, Pavel J. Sindelar, Peter Pentchev, Ulf Brunk, and Gustav Dallner. "Peroxisomal Impairment in Niemann-Pick Type C Disease." Journal of Biological Chemistry 272, no. 10 (March 7, 1997): 6245–51. http://dx.doi.org/10.1074/jbc.272.10.6245.

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38

IKONEN, E., and M. HOLTTAVUORI. "Cellular pathology of Niemann–Pick type C disease." Seminars in Cell & Developmental Biology 15, no. 4 (August 2004): 445–54. http://dx.doi.org/10.1016/j.semcdb.2004.03.001.

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39

Suzuki, Kipuko, Colette C. Parker, Peter G. Pentchev, David Katz, Bernardino Ghetti, Anthony N. D'Agostino, and Eugene D. Carstea. "Neurofibrillary tangles in Niemann-Pick disease type C." Acta Neuropathologica 89, no. 3 (March 1995): 227–38. http://dx.doi.org/10.1007/bf00309338.

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40

Lowenthal, A. C., J. F. Cummings, D. A. Wenger, M. A. Thrall, P. A. Wood, and A. de Lahunta. "Feline sphingolipidosis resembling Niemann-Pick disease type C." Acta Neuropathologica 81, no. 2 (December 1990): 189–97. http://dx.doi.org/10.1007/bf00334507.

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41

Ong, Wei-Yi, Ujendra Kumar, Robert Switzer, Anita Sidhu, Geetha Suresh, Chang-Yong Hu, and Shutish Patel. "Neurodegeneration in Niemann-Pick type C disease mice." Experimental Brain Research 141, no. 2 (November 1, 2001): 218–31. http://dx.doi.org/10.1007/s002210100870.

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42

Kovesi, T. A., J. Lee, B. Shuckett, J. T. R. Clarke, J. W. Callahan, and M. J. Phillips. "Pulmonary infiltration in Niemann-Pick disease type C." Journal of Inherited Metabolic Disease 19, no. 6 (November 1996): 792–93. http://dx.doi.org/10.1007/bf01799175.

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43

Newton, Jason, Sheldon Milstien, and Sarah Spiegel. "Niemann-Pick type C disease: The atypical sphingolipidosis." Advances in Biological Regulation 70 (December 2018): 82–88. http://dx.doi.org/10.1016/j.jbior.2018.08.001.

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44

de Winter, J. M., H. C. Janse, O. P. van Diggelen, F. J. Los, F. A. Beemer, and W. J. Kleijer. "Prenatal diagnosis of Niemann-Pick disease type C." Clinica Chimica Acta 208, no. 3 (June 1992): 173–81. http://dx.doi.org/10.1016/0009-8981(92)90074-z.

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45

Fu, Rao, Nicole M. Yanjanin, Simona Bianconi, William J. Pavan, and Forbes D. Porter. "Oxidative stress in Niemann–Pick disease, type C." Molecular Genetics and Metabolism 101, no. 2-3 (October 2010): 214–18. http://dx.doi.org/10.1016/j.ymgme.2010.06.018.

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46

Natowicz, Marvin R., Joan M. Stoler, Elizabeth M. Prence, and Laura Liscum. "Marked Heterogeneity in Niemann-Pick Disease, Type C." Clinical Pediatrics 34, no. 4 (April 1995): 190–97. http://dx.doi.org/10.1177/000992289503400404.

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47

Klyushnikov, Sergei Anatolyevich, O. R. Smirnov, and E. Yu Zakharova. "A case of Niemann – Pick disease type C." Neurology, neuropsychiatry, Psychosomatics, no. 4 (December 16, 2013): 43. http://dx.doi.org/10.14412/2074-2711-2013-2454.

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48

Love, S., L. R. Bridges, and C. P. Case. "NEUROFIBRILLARY TANGLES IN NIEMANN-PICK DISEASE TYPE C." Journal of Neuropathology and Experimental Neurology 54, no. 3 (May 1995): 459. http://dx.doi.org/10.1097/00005072-199505000-00210.

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49

Snow, K., W. D. Park, P. A. Lundquist, C. Walsh Vockley, M. C. Patterson, P. S. Karnes, and J. F. O'Brien. "Genetic testing for Niemann-Pick Type C disease." Genetics in Medicine 2, no. 1 (January 2000): 107. http://dx.doi.org/10.1097/00125817-200001000-00204.

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50

Suzuki, K., Colette C. Parker, Peter G. Pentchev, David Katz, Bernardino Ghetti, Anthony N. D'Agostino, and Eugene D. Carstea. "Neurofibrillary tangles in Niemann-Pick disease type C." Acta Neuropathologica 89, no. 3 (February 1, 1995): 227–38. http://dx.doi.org/10.1007/s004010050241.

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