메뉴 건너뛰기




Volumn 57, Issue 9, 2013, Pages 815-825

A thematic review of scientific and family interests in Canavan Disease: Where are the Developmentalists?

Author keywords

Canavan Disease; Carers; Intellectual disability; Parents

Indexed keywords

ACETIC ACID; CALCIUM ACETATE; TRIACETIN;

EID: 84881662602     PISSN: 09642633     EISSN: 13652788     Source Type: Journal    
DOI: 10.1111/j.1365-2788.2012.01576.x     Document Type: Article
Times cited : (2)

References (70)
  • 1
    • 66849119259 scopus 로고    scopus 로고
    • Reliable prenatal diagnosis of Canavan Disease by measuring N-acetylaspartate in amniotic fluid using chromatography mass spectrometry
    • Al-Dirshibi O., Kurdi W., Imtiaz F., Imtiaz A., Asmahan M., Al-Sayad M. etal. (2009) Reliable prenatal diagnosis of Canavan Disease by measuring N-acetylaspartate in amniotic fluid using chromatography mass spectrometry. Prenatal Diagnosis 29, 477-80.
    • (2009) Prenatal Diagnosis , vol.29 , pp. 477-480
    • Al-Dirshibi, O.1    Kurdi, W.2    Imtiaz, F.3    Imtiaz, A.4    Asmahan, M.5    Al-Sayad, M.6
  • 4
    • 68349141082 scopus 로고    scopus 로고
    • Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease?
    • Baslow M. H. & Guilfoyle D. N. (2009) Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease? Neurochemistry Research 34, 1523-34.
    • (2009) Neurochemistry Research , vol.34 , pp. 1523-1534
    • Baslow, M.H.1    Guilfoyle, D.N.2
  • 5
    • 77955982091 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis: ethical considerations
    • (eds V. Ravitsky, A. Fiester & A. Caplan). Springer Publishing Company, New York
    • Batzer F. & Ravitzky V. (2009) Preimplantation genetic diagnosis: ethical considerations. In: The Penn Center Guide to Bioethics (eds V. Ravitsky, A. Fiester & A. Caplan ), pp. 339-54. Springer Publishing Company, New York.
    • (2009) The Penn Center Guide to Bioethics , pp. 339-354
    • Batzer, F.1    Ravitzky, V.2
  • 8
    • 47049111607 scopus 로고    scopus 로고
    • Health care expenditures for infants and young children with Down syndrome in a privately insured population
    • Boulet S. L., Molinari N. A., Grosse S. D., Honein M. A. & Correa-Villaseñor A. (2008) Health care expenditures for infants and young children with Down syndrome in a privately insured population. Journal of Pediatrics 153, 241-6.
    • (2008) Journal of Pediatrics , vol.153 , pp. 241-246
    • Boulet, S.L.1    Molinari, N.A.2    Grosse, S.D.3    Honein, M.A.4    Correa-Villaseñor, A.5
  • 9
    • 73649107923 scopus 로고    scopus 로고
    • A 439 kb-sized homozygous deletion in 17p13.3 leading to biallelic loss of the ASPA as cause of Canavan disease detected by SNP-array analysis
    • Caliebe A., Vater I., Plendl H., Gesk S., Siebert R., Cremer F. etal. (2010) A 439 kb-sized homozygous deletion in 17p13.3 leading to biallelic loss of the ASPA as cause of Canavan disease detected by SNP-array analysis. Molecular Genetic Metabolism 99, 184-5.
    • (2010) Molecular Genetic Metabolism , vol.99 , pp. 184-185
    • Caliebe, A.1    Vater, I.2    Plendl, H.3    Gesk, S.4    Siebert, R.5    Cremer, F.6
  • 10
    • 0141872257 scopus 로고
    • Schilder's encephalitis peraxialis diffusa. Report of a case in a child aged sixteen and one half months
    • Canavan M. M. (1931) Schilder's encephalitis peraxialis diffusa. Report of a case in a child aged sixteen and one half months. Archives of Neurology and Psychiatry 25, 299-308.
    • (1931) Archives of Neurology and Psychiatry , vol.25 , pp. 299-308
    • Canavan, M.M.1
  • 11
    • 84881662527 scopus 로고    scopus 로고
    • Prenatal choices: genetic counseling for variable genetic diseases
    • (eds V. Ravitsky, A. Fiester & A. Caplan) Springer Publishing Company, New York.
    • Coughlin C. (2009) Prenatal choices: genetic counseling for variable genetic diseases. In: The Penn Center Guide to Bioethics (eds V. Ravitsky, A. Fiester & A. Caplan ), pp. 415-24. Springer Publishing Company, New York.
    • (2009) The Penn Center Guide to Bioethics , pp. 415-424
    • Coughlin, C.1
  • 15
    • 41149144099 scopus 로고    scopus 로고
    • Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
    • Fares F., Badarneh K., Abosaleh M., Harari-Shaham A., Diukman R. & David M. (2008) Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated? Prenatal Diagnosis 28, 236-41.
    • (2008) Prenatal Diagnosis , vol.28 , pp. 236-241
    • Fares, F.1    Badarneh, K.2    Abosaleh, M.3    Harari-Shaham, A.4    Diukman, R.5    David, M.6
  • 16
    • 0346787546 scopus 로고    scopus 로고
    • Canavan Disease: Carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay
    • Feigenbaum A., Moore R., Clarke J., Hewson S., Chitayat D., Ray P. etal. (2004) Canavan Disease: Carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. American Journal of Medical Genetics 124A, 142-47.
    • (2004) American Journal of Medical Genetics , vol.124 , pp. 142-147
    • Feigenbaum, A.1    Moore, R.2    Clarke, J.3    Hewson, S.4    Chitayat, D.5    Ray, P.6
  • 17
    • 68349086732 scopus 로고    scopus 로고
    • Ataxias with autosomal, X-chromosomal or maternal inheritance
    • Finsterer J. (2009) Ataxias with autosomal, X-chromosomal or maternal inheritance. Canadian Journal of Neurological Sciences 36, 409-28.
    • (2009) Canadian Journal of Neurological Sciences , vol.36 , pp. 409-428
    • Finsterer, J.1
  • 18
    • 34548040498 scopus 로고    scopus 로고
    • Reducing tube feeds and tongue thrust: Combining an oral-motor and behavioral approach to feeding
    • Gibbons B. G., Williams K. E. & Riegel K. E. (2007) Reducing tube feeds and tongue thrust: Combining an oral-motor and behavioral approach to feeding. American Journal of Occupational Therapy 61, 384-91.
    • (2007) American Journal of Occupational Therapy , vol.61 , pp. 384-391
    • Gibbons, B.G.1    Williams, K.E.2    Riegel, K.E.3
  • 19
    • 84944478563 scopus 로고
    • Progressive degenerative subcortical encephalopathy (Shilder's disease)
    • Globus J. & Strauss I. (1928) Progressive degenerative subcortical encephalopathy (Shilder's disease). Archives of Neurology and Psychiatry 20, 1190-228.
    • (1928) Archives of Neurology and Psychiatry , vol.20 , pp. 1190-1228
    • Globus, J.1    Strauss, I.2
  • 21
    • 0027434971 scopus 로고
    • A case of Canavan disease: the first biochemically proven case in a Japanese girl
    • Hamaguchi H., Nihei K., Nakamoto N., Ezoe T., Naito H., Hara M. etal. (1993) A case of Canavan disease: the first biochemically proven case in a Japanese girl. Brain and Development 15, 367-71.
    • (1993) Brain and Development , vol.15 , pp. 367-371
    • Hamaguchi, H.1    Nihei, K.2    Nakamoto, N.3    Ezoe, T.4    Naito, H.5    Hara, M.6
  • 23
    • 77649185323 scopus 로고    scopus 로고
    • Unilaterally and rapidly progressing white matter lesion with elevated cytokines in a patient with Tay-Sachs disease
    • Hayase T., Shimzu J., Goto T., Nozaki Y., Mori M., Mariko Y. etal. (2010) Unilaterally and rapidly progressing white matter lesion with elevated cytokines in a patient with Tay-Sachs disease. Brain and Development 32, 244-7.
    • (2010) Brain and Development , vol.32 , pp. 244-247
    • Hayase, T.1    Shimzu, J.2    Goto, T.3    Nozaki, Y.4    Mori, M.5    Mariko, Y.6
  • 24
  • 27
    • 33846256312 scopus 로고    scopus 로고
    • Natural history of Canavan Disease revealed by proton magnetic resonance spectroscopy (H-MRS) and diffusion-weighted MRI
    • Janson C. G., McPhee S., Francis J., Shera D., Assadi M., Freese A. etal. (2006) Natural history of Canavan Disease revealed by proton magnetic resonance spectroscopy (H-MRS) and diffusion-weighted MRI. Neuropediatrics 37, 209-21.
    • (2006) Neuropediatrics , vol.37 , pp. 209-221
    • Janson, C.G.1    McPhee, S.2    Francis, J.3    Shera, D.4    Assadi, M.5    Freese, A.6
  • 28
    • 70350448113 scopus 로고    scopus 로고
    • Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish descent
    • Kalman L., Wilson J., Buller A., Dixon L., Edelmann L., Geller L. etal. (2009) Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish descent. Journal of Molecular Diagnostics 11, 530-6.
    • (2009) Journal of Molecular Diagnostics , vol.11 , pp. 530-536
    • Kalman, L.1    Wilson, J.2    Buller, A.3    Dixon, L.4    Edelmann, L.5    Geller, L.6
  • 29
    • 58249094760 scopus 로고    scopus 로고
    • Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan Disease
    • Kaya N., Imtiaz F., Colak D., Al-Sayed M., Al-Odaib A., Al-Zahrani F. etal. (2008) Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan Disease. Genetics in Medicine 10, 675-84.
    • (2008) Genetics in Medicine , vol.10 , pp. 675-684
    • Kaya, N.1    Imtiaz, F.2    Colak, D.3    Al-Sayed, M.4    Al-Odaib, A.5    Al-Zahrani, F.6
  • 31
    • 67649391201 scopus 로고    scopus 로고
    • The effect of N-acetyl-aspartyl-glutamate and N-acetyl-aspartate on white matter oligodendrocytes
    • Kolodziejczyk K., Hamilton N. B., Wade A., Káradóttir R. & Attwell D. (2009) The effect of N-acetyl-aspartyl-glutamate and N-acetyl-aspartate on white matter oligodendrocytes. Brain 132, 1496-508.
    • (2009) Brain , vol.132 , pp. 1496-1508
    • Kolodziejczyk, K.1    Hamilton, N.B.2    Wade, A.3    Káradóttir, R.4    Attwell, D.5
  • 33
    • 70449346685 scopus 로고    scopus 로고
    • Lack of aspartoacylase activity disrupts survival and differentiation of neural progenitors and oligodendrocytes in a mouse model of Canavan disease
    • Kumar S., Biancotti J., Matalon R. & de Vellis J. (2009) Lack of aspartoacylase activity disrupts survival and differentiation of neural progenitors and oligodendrocytes in a mouse model of Canavan disease. Journal of Neuroscience Research 87, 3415-27.
    • (2009) Journal of Neuroscience Research , vol.87 , pp. 3415-3427
    • Kumar, S.1    Biancotti, J.2    Matalon, R.3    de Vellis, J.4
  • 35
    • 33646468070 scopus 로고    scopus 로고
    • Characterization of human aspartoacylase: the brain enzyme responsible for Canavan disease
    • Le Coq J., An H. J., Lebrilla C. & Viola R. E. (2006) Characterization of human aspartoacylase: the brain enzyme responsible for Canavan disease. Biochemistry 45, 5878-84.
    • (2006) Biochemistry , vol.45 , pp. 5878-5884
    • Le Coq, J.1    An, H.J.2    Lebrilla, C.3    Viola, R.E.4
  • 36
    • 40849124078 scopus 로고    scopus 로고
    • Examination of the mechanism of human brain aspartoacylase through the binding of an intermediate analogue
    • Le Coq J., Pavlovksy A., Malik R., Sanishvili R., Xu C. & Viola R. (2008) Examination of the mechanism of human brain aspartoacylase through the binding of an intermediate analogue. Biochemistry 47, 3484-92.
    • (2008) Biochemistry , vol.47 , pp. 3484-3492
    • Le Coq, J.1    Pavlovksy, A.2    Malik, R.3    Sanishvili, R.4    Xu, C.5    Viola, R.6
  • 38
    • 70350347765 scopus 로고    scopus 로고
    • Glyceryl triacetate for Canavan Disease: a low-dose trial in infants and evaluation of a higher dose for toxicity in a tremor rat model
    • Madhavaroa C., Arun P., Anikster Y., Mog S., Staretz-Chacham O., Moffett J. etal. (2009) Glyceryl triacetate for Canavan Disease: a low-dose trial in infants and evaluation of a higher dose for toxicity in a tremor rat model. Journal of Inherited Metabolic Disorders 32, 640-50.
    • (2009) Journal of Inherited Metabolic Disorders , vol.32 , pp. 640-650
    • Madhavaroa, C.1    Arun, P.2    Anikster, Y.3    Mog, S.4    Staretz-Chacham, O.5    Moffett, J.6
  • 39
    • 84881665830 scopus 로고    scopus 로고
    • Canavan Disease
    • [Internet] (eds R. A. Pagon, T. D. Bird, C. R. Dolan & K. Stephens). University of Washington, Seattle, WA. Updated 11 August 2011.
    • Matalon R. & Michals-Matalon K. (2011) Canavan Disease. In: Gene Reviews [Internet] (eds R. A. Pagon, T. D. Bird, C. R. Dolan & K. Stephens ). University of Washington, Seattle, WA. Updated 11 August 2011.
    • (2011) Gene Reviews
    • Matalon, R.1    Michals-Matalon, K.2
  • 42
    • 79956307321 scopus 로고    scopus 로고
    • Aspartoacylase-LacZ knockin mice: an engineered model of Canavan Disease
    • doi:10.1371/journal.pone.0020336.
    • Mersmann N., Tkachev D., Jelinek R., Roth P. T., Mbius W. etal. (2011) Aspartoacylase-LacZ knockin mice: an engineered model of Canavan Disease. PLoS ONE 6, e20336. doi:10.1371/journal.pone.0020336.
    • (2011) PLoS ONE , vol.6
    • Mersmann, N.1    Tkachev, D.2    Jelinek, R.3    Roth, P.T.4    Mbius, W.5
  • 44
    • 33747425613 scopus 로고    scopus 로고
    • Preface: a brief review of N-acetylaspartate
    • (eds J. R. Moffett, S. B. Tieman, D. R. Weinberger, J. T. Coyle & A. M. A. Namboodiri). Springer, New York, NY.
    • Moffett J. R. & Namboodiri A. M. A. (2006) Preface: a brief review of N-acetylaspartate. In: N-Acetylaspartate: A Unique Neuronal Molecule in the Central Nervous System (eds J. R. Moffett, S. B. Tieman, D. R. Weinberger, J. T. Coyle & A. M. A. Namboodiri ), pp. vii-xiii. Springer, New York, NY.
    • (2006) N-Acetylaspartate: A Unique Neuronal Molecule in the Central Nervous System , pp. 7-13
    • Moffett, J.R.1    Namboodiri, A.M.A.2
  • 47
    • 67349141772 scopus 로고    scopus 로고
    • Intracerebroventricular administration of N-acetylaspartic acid impairs antioxidant defenses and promotes protein oxidation in cerebral cortex of rats
    • Pederzolli C. D., Rockenbach F. J., Zanin F. R., Henn N. T., Romagna E. C., Sgaravatti A. M. etal. (2009) Intracerebroventricular administration of N-acetylaspartic acid impairs antioxidant defenses and promotes protein oxidation in cerebral cortex of rats. Metabolic Brain Disease 24, 283-98.
    • (2009) Metabolic Brain Disease , vol.24 , pp. 283-298
    • Pederzolli, C.D.1    Rockenbach, F.J.2    Zanin, F.R.3    Henn, N.T.4    Romagna, E.C.5    Sgaravatti, A.M.6
  • 49
    • 79954563176 scopus 로고    scopus 로고
    • Teaching NeuroImages: honeycomb appearance of the brain in a patient with Canavan disease
    • Pradhan S. & Goyal G. (2011) Teaching NeuroImages: honeycomb appearance of the brain in a patient with Canavan disease. Neurology 76, e68.
    • (2011) Neurology , vol.76
    • Pradhan, S.1    Goyal, G.2
  • 51
    • 34247869071 scopus 로고    scopus 로고
    • Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population
    • Schriver I., Kulm M., Gardner P., Pergament E. & Fiddler M. (2007) Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population. Journal of Molecular Diagnostics 9, 228-36.
    • (2007) Journal of Molecular Diagnostics , vol.9 , pp. 228-236
    • Schriver, I.1    Kulm, M.2    Gardner, P.3    Pergament, E.4    Fiddler, M.5
  • 53
    • 58249091635 scopus 로고    scopus 로고
    • Late-onset Tay-Sachs disease presenting as a childhood stutter
    • Shapiro B. & Natowitcz M. (2009) Late-onset Tay-Sachs disease presenting as a childhood stutter. Journal of Neurology 80, 94-5.
    • (2009) Journal of Neurology , vol.80 , pp. 94-95
    • Shapiro, B.1    Natowitcz, M.2
  • 54
    • 56649122081 scopus 로고    scopus 로고
    • Upregulation of N-acetylaspartic acid alters inflammation, transcription, and contractile associated protein levels in the stomach and smooth muscle contractility
    • Surendran S. (2009) Upregulation of N-acetylaspartic acid alters inflammation, transcription, and contractile associated protein levels in the stomach and smooth muscle contractility. Molecular Biology Reports 36, 201-6.
    • (2009) Molecular Biology Reports , vol.36 , pp. 201-206
    • Surendran, S.1
  • 55
    • 79958076690 scopus 로고    scopus 로고
    • Upregulation of N-acetylaspartic acid induces oxidative stress to contribute in disease pathophysiology
    • Surendran S. & Bhatnagar M. (2011) Upregulation of N-acetylaspartic acid induces oxidative stress to contribute in disease pathophysiology. International Journal of Neuroscience 121, 305-9.
    • (2011) International Journal of Neuroscience , vol.121 , pp. 305-309
    • Surendran, S.1    Bhatnagar, M.2
  • 56
    • 84881666054 scopus 로고    scopus 로고
    • Aspartoacylase deficiency in the white matter of human immunodeficiency virus encephalitis: novel mechanism in axonal damage
    • Surendran S. & Rajasankar S. (2011) Aspartoacylase deficiency in the white matter of human immunodeficiency virus encephalitis: novel mechanism in axonal damage. Molecular Genetic Metabolism 103, 203-6.
    • (2011) Molecular Genetic Metabolism , vol.103 , pp. 203-206
    • Surendran, S.1    Rajasankar, S.2
  • 57
    • 24744439230 scopus 로고    scopus 로고
    • Possible genotype-phenotype correlations in children with mild clinical course of Canavan Disease
    • Tacke U., Olbrich H., Sass J., Fekete A., Horvath J., Ziyeh S. etal. (2005) Possible genotype-phenotype correlations in children with mild clinical course of Canavan Disease. Neuropediatrics 36, 252-5.
    • (2005) Neuropediatrics , vol.36 , pp. 252-255
    • Tacke, U.1    Olbrich, H.2    Sass, J.3    Fekete, A.4    Horvath, J.5    Ziyeh, S.6
  • 59
    • 58149229076 scopus 로고    scopus 로고
    • Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS
    • Traka M., Wollmann R., Cerda S., Dugas J., Barres B. & Popko B. (2008) Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS. Journal of Neuroscience 28, 11537-49.
    • (2008) Journal of Neuroscience , vol.28 , pp. 11537-11549
    • Traka, M.1    Wollmann, R.2    Cerda, S.3    Dugas, J.4    Barres, B.5    Popko, B.6
  • 61
    • 45149131896 scopus 로고    scopus 로고
    • Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease
    • Unalp A., Altiok E., Uran N., Ozturk A. & Yuksel S. (2008) Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease. Journal of Tropical Pediatrics 54, 208-10.
    • (2008) Journal of Tropical Pediatrics , vol.54 , pp. 208-210
    • Unalp, A.1    Altiok, E.2    Uran, N.3    Ozturk, A.4    Yuksel, S.5
  • 62
    • 38949128327 scopus 로고    scopus 로고
    • Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease
    • Velinov M., Zellers N., Styles J. & Wisneiwski K. (2008) Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease. Clinical Genetics 73, 288-9.
    • (2008) Clinical Genetics , vol.73 , pp. 288-289
    • Velinov, M.1    Zellers, N.2    Styles, J.3    Wisneiwski, K.4
  • 63
    • 58149462491 scopus 로고    scopus 로고
    • Myelin lipid abnormalities in the aspartoacylase-deficient tremor rat
    • Wang J., Leone P., Wu G., Francis J., Li H., Jain M. etal. (2009) Myelin lipid abnormalities in the aspartoacylase-deficient tremor rat. Neurochemical Research 34, 138-48.
    • (2009) Neurochemical Research , vol.34 , pp. 138-148
    • Wang, J.1    Leone, P.2    Wu, G.3    Francis, J.4    Li, H.5    Jain, M.6
  • 64
    • 33845372664 scopus 로고    scopus 로고
    • Selected genetic disorders affecting Ashkenazi Jewish families
    • Weinstein L. (2007) Selected genetic disorders affecting Ashkenazi Jewish families. Journal of Health Promotion and Maintenance 30, 50-62.
    • (2007) Journal of Health Promotion and Maintenance , vol.30 , pp. 50-62
    • Weinstein, L.1
  • 65
    • 48949107097 scopus 로고    scopus 로고
    • Identification of gangliosides recognized by IgG anti-GaINAc antibodies in bovine spinal motor neurons and motor nerves
    • Yoshino H., Ariga T., Suzuki A., Yu R. & Miyatake T. (2008) Identification of gangliosides recognized by IgG anti-GaINAc antibodies in bovine spinal motor neurons and motor nerves. Brain Research 1227, 216-20.
    • (2008) Brain Research , vol.1227 , pp. 216-220
    • Yoshino, H.1    Ariga, T.2    Suzuki, A.3    Yu, R.4    Miyatake, T.5
  • 69
    • 33746978648 scopus 로고    scopus 로고
    • Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease
    • Zeng B. J., Wang Z. H., Torres P. A., Pastores G. M., Leone P., Raghavan S. S. etal. (2006b) Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease. Molecular Genetics and Metabolism 89, 156-63.
    • (2006) Molecular Genetics and Metabolism , vol.89 , pp. 156-163
    • Zeng, B.J.1    Wang, Z.H.2    Torres, P.A.3    Pastores, G.M.4    Leone, P.5    Raghavan, S.S.6
  • 70
    • 77957929987 scopus 로고    scopus 로고
    • Two novel missense mutations in the aspartocacylase gene in a Chinese patient with congenital Canavan Disease
    • Zhang H., Liu X. & Gu X. (2010) Two novel missense mutations in the aspartocacylase gene in a Chinese patient with congenital Canavan Disease. Brain and Development 32, 879-82.
    • (2010) Brain and Development , vol.32 , pp. 879-882
    • Zhang, H.1    Liu, X.2    Gu, X.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.