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Volumn 11, Issue 10, 2011, Pages 1485-1496

Childhood leukodystrophies: A clinical perspective

Author keywords

brain white matter; children; degenerative brain disease; metabolic genetic disease; MRI

Indexed keywords

CORTICOTROPIN; FLUDROCORTISONE; GABAPENTIN; GLUCOCORTICOID; LORENZO OIL; SPASMOLYTIC AGENT; URSODEOXYCHOLIC ACID;

EID: 80053486228     PISSN: 14737175     EISSN: 17448360     Source Type: Journal    
DOI: 10.1586/ern.11.135     Document Type: Review
Times cited : (77)

References (79)
  • 1
    • 62349126641 scopus 로고    scopus 로고
    • Invited article: An MRI-based approach to the diagnosis of white matter disorders
    • Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 72(8), 750-759 (2009). to the diagnosis of a leukoencephalopathy
    • (2009) Neurology , vol.72 , Issue.8 , pp. 750-759
    • Schiffmann, R.1    Van Der Knaap, M.S.2
  • 2
    • 77957688535 scopus 로고    scopus 로고
    • Magnetic resonance imaging pattern recognition in hypomyelinating disorders
    • Steenweg ME, Vanderver A, Blaser S et al. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain 133(10), 2971-2982 (2010)
    • (2010) Brain , vol.133 , Issue.10 , pp. 2971-2982
    • Steenweg, M.E.1    Vanderver, A.2    Blaser, S.3
  • 3
    • 78650210763 scopus 로고    scopus 로고
    • Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: A new mutation in the DARS2 gene
    • Lin J, Faria EC, Da Rocha AJ et al. Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene. J. Child Neurol. 25(11), 1425-1428 (2010)
    • (2010) J. Child Neurol , vol.25 , Issue.11 , pp. 1425-1428
    • Lin, J.1    Faria, E.C.2    Da Rocha, A.J.3
  • 4
    • 38049016008 scopus 로고    scopus 로고
    • Lactate detection by MRS in mitochondrial encephalopathy: Optimization of technical parameters
    • Jose RA, Tulio BF, Carlos MMA Jr et al. Lactate detection by MRS in mitochondrial encephalopathy: optimization of technical parameters. J. Neuroimaging 18(1), 1-8 (2008)
    • (2008) J. Neuroimaging , vol.18 , Issue.1 , pp. 1-8
    • Jose, R.A.1    Tulio, B.F.2    Carlos, Jr.M.M.A.3
  • 8
    • 71449093485 scopus 로고    scopus 로고
    • Metachromatic leukodystrophy: A scoring system for brain MR imaging observations
    • Eichler F, Grodd W, Grant E et al. Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. AJNR Am. J. Neuroradiol. 30(10), 1893-1897 (2009)
    • (2009) AJNR Am. J. Neuroradiol , vol.30 , Issue.10 , pp. 1893-1897
    • Eichler, F.1    Grodd, W.2    Grant, E.3
  • 10
    • 4143059134 scopus 로고    scopus 로고
    • Krabbe disease: Neurophysiologic studies and MRI correlations
    • Husain AM, Altuwaijri M, Aldosari M. Krabbe disease: neurophysiologic studies and MRI correlations. Neurology 63(4), 617-620 (2004) (Pubitemid 39100814)
    • (2004) Neurology , vol.63 , Issue.4 , pp. 617-620
    • Husain, A.M.1    Altuwaijri, M.2    Aldosari, M.3
  • 11
    • 33747053949 scopus 로고    scopus 로고
    • Peripheral neuropathy in Krabbe disease: Electrodiagnostic findings
    • DOI 10.1212/01.wnl.0000230153.34613.84, PII 0000611420060725000019
    • Siddiqi ZA, Sanders DB, Massey JM. Peripheral neuropathy in Krabbe disease: electrodiagnostic findings. Neurology 67(2), 263-267 (2006) (Pubitemid 44305410)
    • (2006) Neurology , vol.67 , Issue.2 , pp. 263-267
    • Siddiqi, Z.A.1    Sanders, D.B.2    Massey, J.M.3
  • 12
    • 0026597218 scopus 로고
    • Brain MRI and electrophysiologic abnormalities in preclinical and clinical adrenomyeloneuropathy
    • Aubourg P, Adamsbaum C, Lavallard-Rousseau MC et al. Brain MRI and electrophysiologic abnormalities in preclinical and clinical adrenomyeloneuropathy. Neurology 42(1), 85-91 (1992)
    • (1992) Neurology , vol.42 , Issue.1 , pp. 85-91
    • Aubourg, P.1    Adamsbaum, C.2    Lavallard-Rousseau, M.C.3
  • 13
    • 29544446329 scopus 로고    scopus 로고
    • Adrenoleukodystrophy: New approaches to a neurodegenerative disease
    • DOI 10.1001/jama.294.24.3131
    • Moser HW, Raymond GV, Dubey P. Adrenoleukodystrophy: new approaches to a neurodegenerative disease. JAMA 294(24), 3131-3134 (2005) (Pubitemid 43016805)
    • (2005) Journal of the American Medical Association , vol.294 , Issue.24 , pp. 3131-3134
    • Moser, H.W.1    Raymond, G.V.2    Dubey, P.3
  • 14
    • 16344362289 scopus 로고    scopus 로고
    • Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening
    • DOI 10.1016/j.jpeds.2004.10.067
    • Dubey P, Raymond GV, Moser AB, Kharkar S, Bezman L, Moser HW. Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening. J. Pediatr. 146(4), 528-532 (2005) (Pubitemid 40469718)
    • (2005) Journal of Pediatrics , vol.146 , Issue.4 , pp. 528-532
    • Dubey, P.1    Raymond, G.V.2    Moser, A.B.3    Kharkar, S.4    Bezman, L.5    Moser, H.W.6
  • 18
    • 77954813199 scopus 로고    scopus 로고
    • Massive hemobilia and papillomatosis of the gallbladder in metachromatic leukodystrophy: A life-threatening condition
    • Garavelli L, Rosato S, Mele A et al. Massive hemobilia and papillomatosis of the gallbladder in metachromatic leukodystrophy: a life-threatening condition. Neuropediatrics 40(6), 284-286 (2009)
    • (2009) Neuropediatrics , vol.40 , Issue.6 , pp. 284-286
    • Garavelli, L.1    Rosato, S.2    Mele, A.3
  • 19
    • 77953094792 scopus 로고    scopus 로고
    • Metachromatic leukodystrophy: A case of triplets with the late infantile variant and a systematic review of the literature
    • Mahmood A, Berry J, Wenger DA et al. Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature. J. Child Neurol. 25(5), 572-580 (2009)
    • (2009) J. Child Neurol , vol.25 , Issue.5 , pp. 572-580
    • Mahmood, A.1    Berry, J.2    Wenger, D.A.3
  • 21
    • 33947134850 scopus 로고    scopus 로고
    • Gabapentin successfully manages chronic unexplained irritability in children with severe neurologic impairment
    • DOI 10.1542/peds.2006-1609
    • Hauer JM, Wical BS, Charnas L. Gabapentin successfully manages chronic unexplained irritability in children with severe neurologic impairment. Pediatrics 119(2), e519-e522 (2007) (Pubitemid 46397765)
    • (2007) Pediatrics , vol.119 , Issue.2
    • Hauer, J.M.1    Wical, B.S.2    Charnas, L.3
  • 22
    • 63949087844 scopus 로고    scopus 로고
    • Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy
    • Matzner U, Lullmann-Rauch R, Stroobants S et al. Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy. Mol. Ther. 17(4), 600-606 (2009)
    • (2009) Mol. Ther , vol.17 , Issue.4 , pp. 600-606
    • Matzner, U.1    Lullmann-Rauch, R.2    Stroobants, S.3
  • 28
    • 55749107302 scopus 로고    scopus 로고
    • Metachromatic leukodystrophy: An overview of current and prospective treatments
    • Biffi A, Lucchini G, Rovelli A, Sessa M. Metachromatic leukodystrophy: an overview of current and prospective treatments. Bone Marrow Transplant. 42(Suppl. 2), S2-S6 (2008)
    • (2008) Bone Marrow Transplant , vol.42 , Issue.SUPPL. 2
    • Biffi, A.1    Lucchini, G.2    Rovelli, A.3    Sessa, M.4
  • 29
    • 72449121973 scopus 로고    scopus 로고
    • Transplant outcomes in leukodystrophies
    • Orchard PJ, Tolar J. Transplant outcomes in leukodystrophies. Semin. Hematol. 47(1), 70-78 (2010)
    • (2010) Semin. Hematol , vol.47 , Issue.1 , pp. 70-78
    • Orchard, P.J.1    Tolar, J.2
  • 31
    • 0037146578 scopus 로고    scopus 로고
    • Genetics: Finding genes that underline complex traits
    • DOI 10.1126/science.1076641
    • Glazier AM, Nadeau JH, Aitman TJ. Finding genes that underlie complex traits. Science 298(5602), 2345-2349 (2002) (Pubitemid 36014199)
    • (2002) Science , vol.298 , Issue.5602 , pp. 2345-2349
    • Glazier, A.M.1    Nadeau, J.H.2    Aitman, T.J.3
  • 32
    • 80053503456 scopus 로고    scopus 로고
    • Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy
    • In press
    • Thibert R, Hyland K, Chiles J, Steinberg S, Eichler F. Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy. J. Inherit. Metab. Dis. (2011) (In press)
    • (2011) J. Inherit. Metab. Dis.
    • Thibert, R.1    Hyland, K.2    Chiles, J.3    Steinberg, S.4    Eichler, F.5
  • 33
    • 77951558515 scopus 로고    scopus 로고
    • Identifying and managing sources of pain and distress in children with neurological impairment
    • Hauer J. Identifying and managing sources of pain and distress in children with neurological impairment. Pediatr. Ann. 39(4), 198-205 (2010)
    • (2010) Pediatr. Ann , vol.39 , Issue.4 , pp. 198-205
    • Hauer, J.1
  • 34
    • 79957701097 scopus 로고    scopus 로고
    • Challenging symptom profiles of life-limiting conditions in children: A survey of care professionals and families
    • Malcolm C, Forbat L, Anderson G, Gibson F, Hain R. Challenging symptom profiles of life-limiting conditions in children: a survey of care professionals and families. Palliat. Med. 25(4), 357-364 (2011)
    • (2011) Palliat. Med , vol.25 , Issue.4 , pp. 357-364
    • Malcolm, C.1    Forbat, L.2    Anderson, G.3    Gibson, F.4    Hain, R.5
  • 35
    • 78149371707 scopus 로고    scopus 로고
    • Human genetics. Affordable exomes fill gaps in a catalog of rare diseases
    • Kaiser J. Human genetics. Affordable exomes fill gaps in a catalog of rare diseases. Science 330(6006), 903 (2010)
    • (2010) Science , vol.330 , Issue.6006 , pp. 903
    • Kaiser, J.1
  • 36
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies - The next generation
    • Metzker ML. Sequencing technologies - the next generation. Nat. Rev. Genet. 11(1), 31-46 (2010)
    • (2010) Nat. Rev. Genet , vol.11 , Issue.1 , pp. 31-46
    • Metzker, M.L.1
  • 37
    • 79953278629 scopus 로고    scopus 로고
    • Aggregating single patient (n-of-1) trials in populations where recruitment and retention was difficult: The case of palliative care
    • Nikles J, Mitchell GK, Schluter P et al. Aggregating single patient (n-of-1) trials in populations where recruitment and retention was difficult: the case of palliative care. J. Clin. Epidemiol. 64(5), 471-480 (2011)
    • (2011) J. Clin. Epidemiol , vol.64 , Issue.5 , pp. 471-480
    • Nikles, J.1    Mitchell, G.K.2    Schluter, P.3
  • 38
    • 79952671831 scopus 로고    scopus 로고
    • Magnetic resonance spectroscopy in the diagnostic evaluation of brainstem lesions in Alexander disease
    • Davison JE, Davies NP, English MW et al. Magnetic resonance spectroscopy in the diagnostic evaluation of brainstem lesions in Alexander disease. J. Child Neurol. 26(3), 356-360 (2011)
    • (2011) J. Child Neurol , vol.26 , Issue.3 , pp. 356-360
    • Davison, J.E.1    Davies, N.P.2    English, M.W.3
  • 39
    • 48549098206 scopus 로고    scopus 로고
    • Aicardi-Goutires syndrome presenting atypically as a sub-acute leukoencephalopathy
    • Orcesi S, Pessagno A, Biancheri R et al. Aicardi-Goutires syndrome presenting atypically as a sub-acute leukoencephalopathy. Eur. J. Paediatr. Neurol. 12(5), 408-411 (2008)
    • (2008) Eur. J. Paediatr. Neurol , vol.12 , Issue.5 , pp. 408-411
    • Orcesi, S.1    Pessagno, A.2    Biancheri, R.3
  • 41
    • 78651419742 scopus 로고    scopus 로고
    • Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease
    • Zano S, Malik R, Szucs S, Matalon R, Viola RE. Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease. Mol. Genet. Metab. 102(2), 176-180 (2011)
    • (2011) Mol. Genet. Metab , vol.102 , Issue.2 , pp. 176-180
    • Zano, S.1    Malik, R.2    Szucs, S.3    Matalon, R.4    Viola, R.E.5
  • 42
    • 77953096373 scopus 로고    scopus 로고
    • Childhood-onset CADASIL: Clinical, imaging, and neurocognitive features
    • Hartley J, Westmacott R, Decker J, Shroff M, Yoon G. Childhood-onset CADASIL: clinical, imaging, and neurocognitive features. J. Child Neurol. 25(5), 623-627 (2010)
    • (2010) J. Child Neurol , vol.25 , Issue.5 , pp. 623-627
    • Hartley, J.1    Westmacott, R.2    Decker, J.3    Shroff, M.4    Yoon, G.5
  • 43
    • 77952304021 scopus 로고    scopus 로고
    • Cerebrotendinous xanthomatosis: An inborn error in bile acid synthesis with defined mutations but still a challenge
    • Bjorkhem I, Hansson M. Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge. Biochem. Biophys. Res. Commun. 396(1), 46-49 (2010)
    • (2010) Biochem. Biophys. Res. Commun , vol.396 , Issue.1 , pp. 46-49
    • Bjorkhem, I.1    Hansson, M.2
  • 45
    • 35548972537 scopus 로고    scopus 로고
    • Congenital disorders of glycosylation: A rapidly expanding disease family
    • Jaeken J, Matthijs G. Congenital disorders of glycosylation: a rapidly expanding disease family. Annu. Rev. Genomics Hum. Genet. 8, 261-278 (2007)
    • (2007) Annu. Rev. Genomics Hum. Genet , vol.8 , pp. 261-278
    • Jaeken, J.1    Matthijs, G.2
  • 46
    • 67649881103 scopus 로고    scopus 로고
    • RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection
    • Henneke M, Diekmann S, Ohlenbusch A et al. RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat. Genet. 41(7), 773-775 (2009)
    • (2009) Nat. Genet , vol.41 , Issue.7 , pp. 773-775
    • Henneke, M.1    Diekmann, S.2    Ohlenbusch, A.3
  • 47
    • 69449106758 scopus 로고    scopus 로고
    • Folate receptor a defect causes cerebral folate transport deficiency: A treatable neurodegenerative disorder associated with disturbed myelin metabolism
    • Steinfeld R, Grapp M, Kraetzner R et al. Folate receptor a defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am. J. Hum. Genet. 85(3), 354-363 (2009)
    • (2009) Am. J. Hum. Genet , vol.85 , Issue.3 , pp. 354-363
    • Steinfeld, R.1    Grapp, M.2    Kraetzner, R.3
  • 48
    • 77954427831 scopus 로고    scopus 로고
    • Characteristic MR spectroscopy in fucosidosis: In vitro investigation
    • Mamourian AC, Hopkin JR, Chawla S, Poptani H. Characteristic MR spectroscopy in fucosidosis: in vitro investigation. Pediatr. Radiol. 40(8), 1446-1449 (2010)
    • (2010) Pediatr. Radiol , vol.40 , Issue.8 , pp. 1446-1449
    • Mamourian, A.C.1    Hopkin, J.R.2    Chawla, S.3    Poptani, H.4
  • 49
    • 64149126029 scopus 로고    scopus 로고
    • Phenotypic variability in giant axonal neuropathy
    • Tazir M, Nouioua S, Magy L et al. Phenotypic variability in giant axonal neuropathy. Neuromuscul. Disord. 19(4), 270-274 (2009)
    • (2009) Neuromuscul. Disord , vol.19 , Issue.4 , pp. 270-274
    • Tazir, M.1    Nouioua, S.2    Magy, L.3
  • 50
    • 47349107624 scopus 로고    scopus 로고
    • Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy
    • DOI 10.1111/j.1440-1754.2008.01340.x
    • Srinivasan J, Coleman L, Kornberg AJ. Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy. J. Paediatr. Child Health 44(7-8), 459-461 (2008) (Pubitemid 352000287)
    • (2008) Journal of Paediatrics and Child Health , vol.44 , Issue.7-8 , pp. 459-461
    • Srinivasan, J.1    Coleman, L.2    Kornberg, A.J.3
  • 51
    • 33745714464 scopus 로고    scopus 로고
    • Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension
    • Del Toro M, Arranz JA, Macaya A et al. Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension. Ann. Neurol. 60(1), 148-152 (2006)
    • (2006) Ann. Neurol , vol.60 , Issue.1 , pp. 148-152
    • Del Toro, M.1    Arranz, J.A.2    MacAya, A.3
  • 55
    • 60749137633 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher-like disease presentation of MCT8 mutated male subjects
    • Vaurs-Barriere C, Deville M, Sarret C et al. Pelizaeus-Merzbacher-like disease presentation of MCT8 mutated male subjects. Ann. Neurol. 65(1), 114-118 (2009)
    • (2009) Ann. Neurol , vol.65 , Issue.1 , pp. 114-118
    • Vaurs-Barriere, C.1    Deville, M.2    Sarret, C.3
  • 56
    • 78650037378 scopus 로고    scopus 로고
    • Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31
    • Bernard G, Thiffault I, Tetreault M et al. Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics 11(4), 457-464 (2010)
    • (2010) Neurogenetics , vol.11 , Issue.4 , pp. 457-464
    • Bernard, G.1    Thiffault, I.2    Tetreault, M.3
  • 57
    • 53049095219 scopus 로고    scopus 로고
    • Infantile neuroaxonal dystrophy: Whats most important for the diagnosis? Eur
    • Carrilho I, Santos M, Guimaraes A et al. Infantile neuroaxonal dystrophy: whats most important for the diagnosis? Eur. J. Paediatr. Neurol. 12(6), 491-500 (2008)
    • (2008) J. Paediatr. Neurol , vol.12 , Issue.6 , pp. 491-500
    • Carrilho, I.1    Santos, M.2    Guimaraes, A.3
  • 58
    • 37849034076 scopus 로고    scopus 로고
    • Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
    • Briggs TA, Abdel-Salam GM, Balicki M et al. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am. J. Med. Genet. 146A(2), 182-190 (2008)
    • (2008) Am. J. Med. Genet. , vol.146 A , Issue.2 , pp. 182-190
    • Briggs, T.A.1    Abdel-Salam, G.M.2    Balicki, M.3
  • 59
    • 79951557486 scopus 로고    scopus 로고
    • Progressive cavitating leukoencephalopathy associated with respiratory chain complex i deficiency and a novel mutation in NDUFS1
    • Ferreira M, Torraco A, Rizza T et al. Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1. Neurogenetics 12(1), 9-17 (2011)
    • (2011) Neurogenetics , vol.12 , Issue.1 , pp. 9-17
    • Ferreira, M.1    Torraco, A.2    Rizza, T.3
  • 61
    • 77952920586 scopus 로고    scopus 로고
    • Megalencephalic leukoencephalopathy with cysts without MLC1 defect
    • van der Knaap MS, Lai V, Kohler W et al. Megalencephalic leukoencephalopathy with cysts without MLC1 defect. Ann. Neurol. 67(6), 834-837 (2010)
    • (2010) Ann. Neurol , vol.67 , Issue.6 , pp. 834-837
    • Van Der Knaap, M.S.1    Lai, V.2    Kohler, W.3
  • 63
    • 79953681874 scopus 로고    scopus 로고
    • Mutant glialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism
    • Lopez-Hernandez T, Ridder MC, Montolio M et al. Mutant glialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. Am. J. Hum. Genet. 88(4), 422-432 (2011)
    • (2011) Am. J. Hum. Genet , vol.88 , Issue.4 , pp. 422-432
    • Lopez-Hernandez, T.1    Ridder, M.C.2    Montolio, M.3
  • 65
    • 74949138036 scopus 로고    scopus 로고
    • SURF-1 gene mutation associated with leukoencephalopathy in a 2-year-old
    • Timothy J, Geller T. SURF-1 gene mutation associated with leukoencephalopathy in a 2-year-old. J. Child Neurol. 24, 1206-1301 (2009)
    • (2009) J. Child Neurol , vol.24 , pp. 1206-1301
    • Timothy, J.1    Geller, T.2
  • 68
    • 77955079630 scopus 로고    scopus 로고
    • An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: A genotype-phenotype study
    • Steenweg ME, Jakobs C, Errami A et al. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat 31(4), 380-390 (2010)
    • (2010) Hum Mutat , vol.31 , Issue.4 , pp. 380-390
    • Steenweg, M.E.1    Jakobs, C.2    Errami, A.3
  • 69
    • 41649092989 scopus 로고    scopus 로고
    • GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease
    • Henneke M, Combes P, Diekmann S et al. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Neurology 70(10), 748-754 (2008)
    • (2008) Neurology , vol.70 , Issue.10 , pp. 748-754
    • Henneke, M.1    Combes, P.2    Diekmann, S.3
  • 70
    • 78649766918 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation
    • Feinstein M, Markus B, Noyman I et al. Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. Am. J. Hum. Genet. 87(6), 820-828 (2010)
    • (2010) Am. J. Hum. Genet , vol.87 , Issue.6 , pp. 820-828
    • Feinstein, M.1    Markus, B.2    Noyman, I.3
  • 71
    • 76749147039 scopus 로고    scopus 로고
    • Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases
    • Mochel F, Engelke UF, Barritault J et al. Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases. Neurology 74(4), 302-305 (2010)
    • (2010) Neurology , vol.74 , Issue.4 , pp. 302-305
    • Mochel, F.1    Engelke, U.F.2    Barritault, J.3
  • 73
    • 78149275114 scopus 로고    scopus 로고
    • Genotype- phenotype correlation in vanishing white matter disease
    • van der Lei HDW, van Berkel CGM, van Wieringen WN et al. Genotype- phenotype correlation in vanishing white matter disease. Neurology 75(17), 1555-1559 (2010)
    • (2010) Neurology , vol.75 , Issue.17 , pp. 1555-1559
    • Van Der Lei Hdw1    Van Berkel Cgm2    Van Wieringen, W.N.3
  • 74
    • 20244380309 scopus 로고    scopus 로고
    • Leukoencephalopathy with ataxia, hypodontia, and hypomyelination
    • Wolf NI, Harting I, Boltshauser E. Leukoencephalopathy with ataxia, hypodontia, and hypomyelination. Neurology 64(8), 1461-1644 (2006)
    • (2006) Neurology , vol.64 , Issue.8 , pp. 1461-1644
    • Wolf, N.I.1    Harting, I.2    Boltshauser, E.3
  • 76
    • 75449107727 scopus 로고    scopus 로고
    • Case records of the Massachusetts General Hospital. Case 3-2010. A 5-month-old boy with developmental delay and irritability
    • Krishnamoorthy KS, Eichler FS, Goyal NA, Small JE, Snuderl M. Case records of the Massachusetts General Hospital. Case 3-2010. A 5-month-old boy with developmental delay and irritability. N. Engl. J. Med. 362(4), 346-356 (2010)
    • (2010) N. Engl. J. Med , vol.362 , Issue.4 , pp. 346-356
    • Krishnamoorthy, K.S.1    Eichler, F.S.2    Goyal, N.A.3    Small, J.E.4    Snuderl, M.5
  • 78
    • 39049176929 scopus 로고    scopus 로고
    • Diagnosis of Krabbe disease by use of a natural substrate
    • Callahan JW, Skomorowski MA. Diagnosis of Krabbe disease by use of a natural substrate. Methods Mol. Biol. 347, 321-330 (2006)
    • (2006) Methods Mol. Biol , vol.347 , pp. 321-330
    • Callahan, J.W.1    Skomorowski, M.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.