메뉴 건너뛰기




Volumn 49, Issue 7, 2007, Pages 571-578

Decreased T2 signal in the thalami may be a sign of lysosomal storage disease

Author keywords

Brain; Lysosomal storage disease; MRI; Thalamus

Indexed keywords

ALPHA LEVO FUCOSIDASE; BETA GALACTOSIDASE; BETA N ACETYLHEXOSAMINIDASE A; CEREBROSIDE SULFATASE; CERULOPLASMIN; MANNOSIDASE; N ACETYLGALACTOSAMINE 6 SULFATASE; PALMITOYL PROTEIN THIOESTERASE; SIALIDASE;

EID: 34447100391     PISSN: 00283940     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00234-007-0220-6     Document Type: Review
Times cited : (73)

References (121)
  • 1
    • 34447095867 scopus 로고    scopus 로고
    • Metabolic and toxic disorders
    • In: Prayson R, Goldblum J (eds) Elsevier Churchill Livingstone, Philadelphia
    • Agamanolis D (2005) Metabolic and toxic disorders. In: Prayson R, Goldblum J (eds) Neuropathology. Elsevier Churchill Livingstone, Philadelphia, pp 339-372
    • (2005) Neuropathology , pp. 339-372
    • Agamanolis, D.1
  • 2
    • 34447093771 scopus 로고    scopus 로고
    • Lysosomal storage diseases
    • In: Swaiman KF, Ashwall S, Ferriero DM (eds) Mosby Elsevier, Philadelphia
    • Pastores GM, Kolodny EH (2006) Lysosomal storage diseases. In: Swaiman KF, Ashwall S, Ferriero DM (eds) Pediatric neurology: Principles and practice. Mosby Elsevier, Philadelphia, pp 659-714
    • (2006) Pediatric Neurology: Principles and Practice , pp. 659-714
    • Pastores, G.M.1    Kolodny, E.H.2
  • 3
    • 0027985401 scopus 로고
    • MRI of the normal brain from early childhood to middle age. I Appearances on T2- and proton density-weighted images and occurrence of incidental high-signal foci
    • Autti T, Raininko R, Vanhanen S-L, Kallio M, Santavuori P (1994) MRI of the normal brain from early childhood to middle age. I Appearances on T2- and proton density-weighted images and occurrence of incidental high-signal foci. Neuroradiology 36:644-648
    • (1994) Neuroradiology , vol.36 , pp. 644-648
    • Autti, T.1    Raininko, R.2    Vanhanen, S.-L.3    Kallio, M.4    Santavuori, P.5
  • 4
    • 0027939157 scopus 로고
    • MRI of the normal brain from early childhood to middle age. II. Age dependence of signal intensity changes on T2-weighted images
    • Autti T, Raininko R, Vanhanen S-L, Kallio M, Santavuori P (1994) MRI of the normal brain from early childhood to middle age. II. Age dependence of signal intensity changes on T2-weighted images. Neuroradiology 36:649-651
    • (1994) Neuroradiology , vol.36 , pp. 649-651
    • Autti, T.1    Raininko, R.2    Vanhanen, S.-L.3    Kallio, M.4    Santavuori, P.5
  • 5
    • 34447107816 scopus 로고    scopus 로고
    • Barkovich AJ (ed) Lippincott Williams & Wilkins, Philadelphia
    • Barkovich AJ (ed) (2005) Pediatric neuroimaging. Lippincott Williams & Wilkins, Philadelphia, pp 76-189
    • (2005) Pediatric Neuroimaging , pp. 76-189
  • 6
    • 0029007765 scopus 로고
    • Hereditary ceruloplasmin deficiency with hemosiderosis: A clinicopathological study of a Japanese family
    • Morita H, Ikeda S, Yamamoto K et al (1995) Hereditary ceruloplasmin deficiency with hemosiderosis: A clinicopathological study of a Japanese family. Ann Neurol 37:646-656
    • (1995) Ann Neurol , vol.37 , pp. 646-656
    • Morita, H.1    Ikeda, S.2    Yamamoto, K.3
  • 7
    • 0041670918 scopus 로고    scopus 로고
    • Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene
    • Hatanaka Y, Okano T, Oda K, Yamamoto K, Yoshida K (2003) Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene. Intern Med 42:599-604
    • (2003) Intern Med , vol.42 , pp. 599-604
    • Hatanaka, Y.1    Okano, T.2    Oda, K.3    Yamamoto, K.4    Yoshida, K.5
  • 8
    • 0032843885 scopus 로고    scopus 로고
    • A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: Administration of fresh-frozen human plasma
    • Yonekawa M, Okabe T, Asamoto Y, Ohta M (1998) A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: administration of fresh-frozen human plasma. Eur Neurol 42:157-162
    • (1998) Eur Neurol , vol.42 , pp. 157-162
    • Yonekawa, M.1    Okabe, T.2    Asamoto, Y.3    Ohta, M.4
  • 9
    • 0032722834 scopus 로고    scopus 로고
    • Cerebral fuorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI, and clinical observations in a patient with infantile G(M1) gangliosidosis
    • Al-Essa MA, Bakheet SM, Patay ZJ, Nounou RM, Ozand PT (1999) Cerebral fuorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI, and clinical observations in a patient with infantile G(M1) gangliosidosis. Brain Dev 21:559-562
    • (1999) Brain Dev , vol.21 , pp. 559-562
    • Al-Essa, M.A.1    Bakheet, S.M.2    Patay, Z.J.3    Nounou, R.M.4    Ozand, P.T.5
  • 11
    • 0028605992 scopus 로고
    • Thalamic hyperdensity on CT in infantile GM1-gangliosidosis
    • Kobayashi O, Takashima S (1994) Thalamic hyperdensity on CT in infantile GM1-gangliosidosis. Brain Dev 16:472-474
    • (1994) Brain Dev , vol.16 , pp. 472-474
    • Kobayashi, O.1    Takashima, S.2
  • 13
    • 0037277384 scopus 로고    scopus 로고
    • GM2 gangliosidosis variant B1 neuroradiological findings
    • Grosso S, Farnetani MA, Berardi R et al (2003) GM2 gangliosidosis variant B1 neuroradiological findings. J Neurol 250:17-21
    • (2003) J Neurol , vol.250 , pp. 17-21
    • Grosso, S.1    Farnetani, M.A.2    Berardi, R.3
  • 15
    • 20144374477 scopus 로고    scopus 로고
    • A case report of Sandhoff disease
    • Yun YM, Lee SN (2005) A case report of Sandhoff disease. Korean J Ophthalmol 19:68-72
    • (2005) Korean J Ophthalmol , vol.19 , pp. 68-72
    • Yun, Y.M.1    Lee, S.N.2
  • 18
    • 0027488589 scopus 로고
    • Thalamic hyperdensity - Is it a diagnostic marker for Sandhoff disease
    • Caliskan M, Ozmen M, Beck M, Apak S (1993) Thalamic hyperdensity - is it a diagnostic marker for Sandhoff disease. Brain Dev 15:387-388
    • (1993) Brain Dev , vol.15 , pp. 387-388
    • Caliskan, M.1    Ozmen, M.2    Beck, M.3    Apak, S.4
  • 22
    • 0028101284 scopus 로고
    • Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR
    • Vanhanen SL, Raininko R, Santavuori P (1994) Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR. AJNR Am J Neuroradiol 15:1443-1453
    • (1994) AJNR Am J Neuroradiol , vol.15 , pp. 1443-1453
    • Vanhanen, S.L.1    Raininko, R.2    Santavuori, P.3
  • 25
    • 0029984498 scopus 로고    scopus 로고
    • Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease)
    • Barone R, Bruhl K, Stoeter P, Fiumara A, Pavone L, Beck M (1996) Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease). Am J Med Genet 63:209-217
    • (1996) Am J Med Genet , vol.63 , pp. 209-217
    • Barone, R.1    Bruhl, K.2    Stoeter, P.3    Fiumara, A.4    Pavone, L.5    Beck, M.6
  • 27
    • 0030922924 scopus 로고    scopus 로고
    • Aspartylglucosaminuria: Radiologic course of the disease with histopathologic correlation
    • Autti T, Raininko R, Haltia M et al (1997) Aspartylglucosaminuria: radiologic course of the disease with histopathologic correlation. J Child Neurol 12:369-375
    • (1997) J Child Neurol , vol.12 , pp. 369-375
    • Autti, T.1    Raininko, R.2    Haltia, M.3
  • 28
    • 0032878293 scopus 로고    scopus 로고
    • Neurological impairment in alpha-mannosidosis: A longitudinal clinical and MRI study of a brother and sister
    • Ara JR, Mayayo E, Marzo ME, Guelbenzu S, Chabas A, Pina MA, Calderon C (1999) Neurological impairment in alpha-mannosidosis: A longitudinal clinical and MRI study of a brother and sister. Childs Nerv Syst 15:369-371
    • (1999) Childs Nerv Syst , vol.15 , pp. 369-371
    • Ara, J.R.1    Mayayo, E.2    Marzo, M.E.3    Guelbenzu, S.4    Chabas, A.5    Pina, M.A.6    Calderon, C.7
  • 29
    • 0033979204 scopus 로고    scopus 로고
    • A case of chronic infantile type of fucosidosis: Clinical and magnetic resonance image findings
    • Inui K, Akagi M, Nishigaki T, Muramatsu T, Tsukamoto H, Okada S (2000) A case of chronic infantile type of fucosidosis: Clinical and magnetic resonance image findings. Brain Dev 22:47-49
    • (2000) Brain Dev , vol.22 , pp. 47-49
    • Inui, K.1    Akagi, M.2    Nishigaki, T.3    Muramatsu, T.4    Tsukamoto, H.5    Okada, S.6
  • 31
    • 0028843964 scopus 로고    scopus 로고
    • MRI evaluation of the brain in infantile neuronal ceroid lipofuscinosis. Part 2: MRI findings in 21 patients
    • Vanhanen SL, Raininko R, Autti T, Santavuori P (1996) MRI evaluation of the brain in infantile neuronal ceroid lipofuscinosis. Part 2: MRI findings in 21 patients. J Child Neurol 10:444-450
    • (1996) J Child Neurol , vol.10 , pp. 444-450
    • Vanhanen, S.L.1    Raininko, R.2    Autti, T.3    Santavuori, P.4
  • 32
    • 0029947923 scopus 로고    scopus 로고
    • MRI of neuronal ceroid lipofuscinosis. I. Cranial MRI of 30 patients with juvenile neuronal ceroidl lipofuscinosis
    • Autti T, Raininko R, Vanhanen SL, Santavuori P (1996) MRI of neuronal ceroid lipofuscinosis. I. Cranial MRI of 30 patients with juvenile neuronal ceroidl lipofuscinosis. Neuroradiology 38:476-782
    • (1996) Neuroradiology , vol.38 , pp. 476-782
    • Autti, T.1    Raininko, R.2    Vanhanen, S.L.3    Santavuori, P.4
  • 33
    • 12144288248 scopus 로고    scopus 로고
    • Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: Clinical, neurophysiological, neuroradiological and histopathologic studies
    • Topçu M, Tan H, Yalnizoǧlu D et al (2004) Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: Clinical, neurophysiological, neuroradiological and histopathologic studies. Turk J Pediatr 46:1-10
    • (2004) Turk J Pediatr , vol.46 , pp. 1-10
    • Topçu, M.1    Tan, H.2    Yalnizoǧlu, D.3
  • 40
    • 0032231360 scopus 로고    scopus 로고
    • MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis
    • Seitz D, Grodd W, Schwab A, Seeger U, Klose U, Nagele T (1998) MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis. AJNR Am J Neuroradiol 19:1373-1377
    • (1998) AJNR Am J Neuroradiol , vol.19 , pp. 1373-1377
    • Seitz, D.1    Grodd, W.2    Schwab, A.3    Seeger, U.4    Klose, U.5    Nagele, T.6
  • 41
    • 0027172520 scopus 로고
    • Infantile Krabbe disease: Complementary CT and MR findings
    • Choi S, Enzmann DR (1993) Infantile Krabbe disease: Complementary CT and MR findings. AJNR Am J Neuroradiol 14:1164-1166
    • (1993) AJNR Am J Neuroradiol , vol.14 , pp. 1164-1166
    • Choi, S.1    Enzmann, D.R.2
  • 43
    • 0037938617 scopus 로고    scopus 로고
    • Increased signal intensity in the pulvinar on T1-weighted images: A pathognomonic MR imaging sign of Fabry disease
    • Moore DF, Ye F, Schiffmann R, Butman JA (2003) Increased signal intensity in the pulvinar on T1-weighted images: A pathognomonic MR imaging sign of Fabry disease. AJNR Am J Neuroradiol 24:1096-1101
    • (2003) AJNR Am J Neuroradiol , vol.24 , pp. 1096-1101
    • Moore, D.F.1    Ye, F.2    Schiffmann, R.3    Butman, J.A.4
  • 44
    • 33645104102 scopus 로고    scopus 로고
    • Magnetic resonance image findings in 5 young patients with Fabry disease
    • Politei JM, Capizzano AA (2006) Magnetic resonance image findings in 5 young patients with Fabry disease. Neurologist 12:103-105
    • (2006) Neurologist , vol.12 , pp. 103-105
    • Politei, J.M.1    Capizzano, A.A.2
  • 45
    • 25444446897 scopus 로고    scopus 로고
    • The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: A cross-sectional study of a large cohort of clinically affected heterozygous women
    • Gupta S, Ries M, Kotsopoulos S, Schiffmann R (2005) The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine (Baltimore) 84:261-268
    • (2005) Medicine (Baltimore) , vol.84 , pp. 261-268
    • Gupta, S.1    Ries, M.2    Kotsopoulos, S.3    Schiffmann, R.4
  • 47
    • 31144458112 scopus 로고    scopus 로고
    • Novel form of intermediate salla disease: Clinical and neuroimaging features
    • Morse RP, Kleta R, Alroy J, Gahl WA (2005) Novel form of intermediate salla disease: Clinical and neuroimaging features. J Child Neurol 20:814-816
    • (2005) J Child Neurol , vol.20 , pp. 814-816
    • Morse, R.P.1    Kleta, R.2    Alroy, J.3    Gahl, W.A.4
  • 48
    • 0345700301 scopus 로고    scopus 로고
    • Infantile sialic acid storage disease: Serial ultrasound and magnetic resonance imaging features
    • Parazzini C, Arena S, Marchetti L et al (2003) Infantile sialic acid storage disease: Serial ultrasound and magnetic resonance imaging features. AJNR Am J Neuroradiol 24:398-400
    • (2003) AJNR Am J Neuroradiol , vol.24 , pp. 398-400
    • Parazzini, C.1    Arena, S.2    Marchetti, L.3
  • 49
    • 0037799612 scopus 로고    scopus 로고
    • A case of Salla disease with involvement of the cerebellar white matter
    • Linnankivi T, Lonnqvist T, Autti T (2003) A case of Salla disease with involvement of the cerebellar white matter. Neuroradiology 45:107-109
    • (2003) Neuroradiology , vol.45 , pp. 107-109
    • Linnankivi, T.1    Lonnqvist, T.2    Autti, T.3
  • 52
    • 0028047005 scopus 로고
    • Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder
    • Haataja L, Parkkola R, Sonninen P et al (1994) Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. Neuropediatrics 25:238-244
    • (1994) Neuropediatrics , vol.25 , pp. 238-244
    • Haataja, L.1    Parkkola, R.2    Sonninen, P.3
  • 53
    • 2342550655 scopus 로고    scopus 로고
    • Brain damage in glycogen storage disease type I
    • Melis D, Parenti G, Della Casa R et al (2004) Brain damage in glycogen storage disease type I. J Pediatr 144:637-642
    • (2004) J Pediatr , vol.144 , pp. 637-642
    • Melis, D.1    Parenti, G.2    Della Casa, R.3
  • 58
    • 0032977484 scopus 로고    scopus 로고
    • Fucosidosis: Immunological studies and chronological neuroradiological changes
    • Ismail EA, Rudwan M, Shafik MH (1999) Fucosidosis: Immunological studies and chronological neuroradiological changes. Acta Paediatr 88:224-227
    • (1999) Acta Paediatr , vol.88 , pp. 224-227
    • Ismail, E.A.1    Rudwan, M.2    Shafik, M.H.3
  • 59
    • 0029808631 scopus 로고
    • Evolution of the neuroimaging changes in fucosidosis type II
    • Terespolsky D, Clarke JT, Blaser SI (1006) Evolution of the neuroimaging changes in fucosidosis type II. J Inherit Metab Dis 19:775-781
    • (1006) J Inherit Metab Dis , vol.19 , pp. 775-781
    • Terespolsky, D.1    Clarke, J.T.2    Blaser, S.I.3
  • 60
    • 0028946281 scopus 로고
    • Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease
    • Provenzale JM, Barboriak DP, Sims K (1995) Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease. AJNR Am J Neuroradiol 16:809-813
    • (1995) AJNR Am J Neuroradiol , vol.16 , pp. 809-813
    • Provenzale, J.M.1    Barboriak, D.P.2    Sims, K.3
  • 62
    • 4444287601 scopus 로고    scopus 로고
    • Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation
    • Matheus MG, Castillo M, Smith JK, Armao D, Towle D, Muenzer J (2004) Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology 46:666-672
    • (2004) Neuroradiology , vol.46 , pp. 666-672
    • Matheus, M.G.1    Castillo, M.2    Smith, J.K.3    Armao, D.4    Towle, D.5    Muenzer, J.6
  • 64
    • 0037196873 scopus 로고    scopus 로고
    • White matter changes mimicking a leukodystrophy in a patient with mucopolysaccharidosis: A characterization by MRI
    • Barone R, Parano E, Trifiletti RR, Fiumara A, Pavone P (2002) White matter changes mimicking a leukodystrophy in a patient with mucopolysaccharidosis: A characterization by MRI. J Neurol Sci 195:171-175
    • (2002) J Neurol Sci , vol.195 , pp. 171-175
    • Barone, R.1    Parano, E.2    Trifiletti, R.R.3    Fiumara, A.4    Pavone, P.5
  • 65
    • 0032719681 scopus 로고    scopus 로고
    • Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome)
    • Barone R, Nigro F, Triulzi F, Musumeci S, Fiumara A, Pavone L (1999) Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome). Neuropediatrics 30:270-274
    • (1999) Neuropediatrics , vol.30 , pp. 270-274
    • Barone, R.1    Nigro, F.2    Triulzi, F.3    Musumeci, S.4    Fiumara, A.5    Pavone, L.6
  • 67
    • 0034801764 scopus 로고    scopus 로고
    • Serial magnetic resonance imaging findings in mucopolysaccharidosis IIIB (Sanfilippo's syndrome B)
    • Zafeiriou DI, Savvopoulou Augoustidou PA, Sewell A et al (2001) Serial magnetic resonance imaging findings in mucopolysaccharidosis IIIB (Sanfilippo's syndrome B). Brain Dev 23:385-389
    • (2001) Brain Dev , vol.23 , pp. 385-389
    • Zafeiriou, D.I.1    Savvopoulou Augoustidou, P.A.2    Sewell, A.3
  • 68
    • 0031443960 scopus 로고    scopus 로고
    • Mucopolysaccharidosis III (San Filippo syndrome) type B: Cranial imaging in two cases
    • Petitti N, Holder CA, Williams DW 3rd (1997) Mucopolysaccharidosis III (San Filippo syndrome) type B: Cranial imaging in two cases. J Comput Assist Tomogr 21:897-899
    • (1997) J Comput Assist Tomogr , vol.21 , pp. 897-899
    • Petitti, N.1    Holder, C.A.2    Williams III, D.W.3
  • 69
    • 0030013096 scopus 로고    scopus 로고
    • MRI in the mild type of mucopolysaccharidosis II (Hunter's syndrome)
    • Shinomiya N, Nagayama T, Fujioka Y, Aoki T (1996) MRI in the mild type of mucopolysaccharidosis II (Hunter's syndrome). Neuroradiology 38:483-485
    • (1996) Neuroradiology , vol.38 , pp. 483-485
    • Shinomiya, N.1    Nagayama, T.2    Fujioka, Y.3    Aoki, T.4
  • 71
    • 22644441772 scopus 로고    scopus 로고
    • Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome (mucopolysaccharidoses type II)
    • Parsons VJ, Hughes DG, Wraith JE (1996) Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome (mucopolysaccharidoses type II). Clin Radiol 51:719-723
    • (1996) Clin Radiol , vol.51 , pp. 719-723
    • Parsons, V.J.1    Hughes, D.G.2    Wraith, J.E.3
  • 76
    • 0024418665 scopus 로고
    • MR imaging of cavitary lesions in the brain with Hurler/Scheie
    • Rauch RA, Friloux LA 3rd, Lott I (1989) MR imaging of cavitary lesions in the brain with Hurler/Scheie. AJNR Am J Neuroradiol 10 (5 Suppl):S1-S3
    • (1989) AJNR Am J Neuroradiol , vol.10 , Issue.5 SUPPL.
    • Rauch, R.A.1    Friloux III, L.A.2    Lott, I.3
  • 78
    • 0032844666 scopus 로고    scopus 로고
    • Normal fluorine-18-labelled 2-fluoro-2-deoxyglucose positron emission tomography and magnetic resonance imaging of the brain in Wolman disease
    • Al-Essa MA, Bakheet SM, Patay ZJ, Powe JE, Ozand PT (1999) Normal fluorine-18-labelled 2-fluoro-2-deoxyglucose positron emission tomography and magnetic resonance imaging of the brain in Wolman disease. J Inherit Metab Dis 22:846-848
    • (1999) J Inherit Metab Dis , vol.22 , pp. 846-848
    • Al-Essa, M.A.1    Bakheet, S.M.2    Patay, Z.J.3    Powe, J.E.4    Ozand, P.T.5
  • 79
    • 33645522116 scopus 로고    scopus 로고
    • Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome
    • Yang YL, Sun F, Zhang Y et al (2006) Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome. Chin Med J 118:373-377
    • (2006) Chin Med J , vol.118 , pp. 373-377
    • Yang, Y.L.1    Sun, F.2    Zhang, Y.3
  • 81
    • 11144357770 scopus 로고    scopus 로고
    • A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality
    • Crimi M, Papadimitriou A, Galbiati S et al (2004) A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality. Pediatr Res 55:842-846
    • (2004) Pediatr Res , vol.55 , pp. 842-846
    • Crimi, M.1    Papadimitriou, A.2    Galbiati, S.3
  • 83
    • 0034851023 scopus 로고    scopus 로고
    • Cytochrome c oxidase partial deficiency-associated Leigh disease presenting as an extrapyramidal syndrome
    • Cacic M, Wilichowski E, Mejaski-Bosnjak V et al (2001) Cytochrome c oxidase partial deficiency-associated Leigh disease presenting as an extrapyramidal syndrome. J Child Neurol 16:616-619
    • (2001) J Child Neurol , vol.16 , pp. 616-619
    • Cacic, M.1    Wilichowski, E.2    Mejaski-Bosnjak, V.3
  • 84
    • 0033006246 scopus 로고    scopus 로고
    • Adult Leigh syndrome with mitochondrial DNA mutation at 8993
    • Nagashima T, Mori M, Katayama K et al (1999) Adult Leigh syndrome with mitochondrial DNA mutation at 8993. Acta Neuropathol (Berl) 97:416-422
    • (1999) Acta Neuropathol (Berl) , vol.97 , pp. 416-422
    • Nagashima, T.1    Mori, M.2    Katayama, K.3
  • 85
    • 0033435127 scopus 로고    scopus 로고
    • MRI of the brain in the Kearns-Sayre syndrome: Report of four cases and a review
    • Chu BC, Terae S, Takahashi C et al (1999) MRI of the brain in the Kearns-Sayre syndrome: Report of four cases and a review. Neuroradiology 41:759-764
    • (1999) Neuroradiology , vol.41 , pp. 759-764
    • Chu, B.C.1    Terae, S.2    Takahashi, C.3
  • 86
    • 0028117673 scopus 로고
    • Progressive brainstem and white matter lesions in Kearns-Sayre syndrome: A case report
    • Nakagawa E, Hirano S, Yamanouchi H, Goto Y, Nonaka I, Takashima S (1994) Progressive brainstem and white matter lesions in Kearns-Sayre syndrome: a case report. Brain Dev 16:416-418
    • (1994) Brain Dev , vol.16 , pp. 416-418
    • Nakagawa, E.1    Hirano, S.2    Yamanouchi, H.3    Goto, Y.4    Nonaka, I.5    Takashima, S.6
  • 87
    • 0030065865 scopus 로고    scopus 로고
    • Mitochondrial myopathy-encephalopathy-lactic acidosis-and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children
    • Kim IO, Kim JH, Kim WS, Hwang YS, Yeon KM, Han MC (1996) Mitochondrial myopathy-encephalopathy-lactic acidosis-and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children. AJR Am J Roentgenol 166:641-645
    • (1996) AJR Am J Roentgenol , vol.166 , pp. 641-645
    • Kim, I.O.1    Kim, J.H.2    Kim, W.S.3    Hwang, Y.S.4    Yeon, K.M.5    Han, M.C.6
  • 89
    • 27644439540 scopus 로고    scopus 로고
    • Wernicke's encephalopathy in a malnourished surgical patient: Clinical features and magnetic resonance imaging
    • Nolli M, Barbieri A, Pinna C, Pasetto A, Nicosia F (2005) Wernicke's encephalopathy in a malnourished surgical patient: Clinical features and magnetic resonance imaging. Acta Anaesthesiol 49:1566-1570
    • (2005) Acta Anaesthesiol , vol.49 , pp. 1566-1570
    • Nolli, M.1    Barbieri, A.2    Pinna, C.3    Pasetto, A.4    Nicosia, F.5
  • 90
    • 0038418800 scopus 로고    scopus 로고
    • Wernicke encephalopathy: MR findings and clinical presentation
    • Weidauer S, Nichtweiss M, Lanfermann H, Zanella FE (2003) Wernicke encephalopathy: MR findings and clinical presentation. Eur Radiol 13:1001-1009
    • (2003) Eur Radiol , vol.13 , pp. 1001-1009
    • Weidauer, S.1    Nichtweiss, M.2    Lanfermann, H.3    Zanella, F.E.4
  • 91
    • 0034853667 scopus 로고    scopus 로고
    • Diffusion-weighted MR findings in a reversible case of acute Wernicke encephalopathy
    • Oka M, Terae S, Kobayashi R et al (2001) Diffusion-weighted MR findings in a reversible case of acute Wernicke encephalopathy. Acta Neurol Scand 104:178-181
    • (2001) Acta Neurol Scand , vol.104 , pp. 178-181
    • Oka, M.1    Terae, S.2    Kobayashi, R.3
  • 93
    • 0031622986 scopus 로고    scopus 로고
    • Wernicke encephalopathy and beriberi during total parenteral nutrition attributable to multivitamin infusion shortage
    • Hahn JS, Berquist W, Alcorn DM, Chamberlain L, Bass D (1998) Wernicke encephalopathy and beriberi during total parenteral nutrition attributable to multivitamin infusion shortage. Pediatrics 101:E10
    • (1998) Pediatrics , vol.101
    • Hahn, J.S.1    Berquist, W.2    Alcorn, D.M.3    Chamberlain, L.4    Bass, D.5
  • 95
    • 0033942265 scopus 로고    scopus 로고
    • Correlation of neurological manifestations and MR images in a patient with Wilson's disease after liver transplantation
    • Wu JC, Huang CC, Jeng LB, Chu NS (2000) Correlation of neurological manifestations and MR images in a patient with Wilson's disease after liver transplantation. Acta Neurol Scand 102:134-139
    • (2000) Acta Neurol Scand , vol.102 , pp. 134-139
    • Wu, J.C.1    Huang, C.C.2    Jeng, L.B.3    Chu, N.S.4
  • 96
    • 0032767467 scopus 로고    scopus 로고
    • Magnetic resonance imaging and proton spectroscopy in Wilson's disease
    • Alanen A, Komu M, Penttinen M, Leino R (1999) Magnetic resonance imaging and proton spectroscopy in Wilson's disease. Br J Radiol 72:749-756
    • (1999) Br J Radiol , vol.72 , pp. 749-756
    • Alanen, A.1    Komu, M.2    Penttinen, M.3    Leino, R.4
  • 97
    • 0029834406 scopus 로고    scopus 로고
    • Reversible magnetic resonance imaging lesions in Wilson's disease: Clinical-anatomical correlation
    • Takahashi W, Yoshii F, Shinohara Y (1996) Reversible magnetic resonance imaging lesions in Wilson's disease: Clinical-anatomical correlation. J Neuroimaging 6:246-248
    • (1996) J Neuroimaging , vol.6 , pp. 246-248
    • Takahashi, W.1    Yoshii, F.2    Shinohara, Y.3
  • 98
    • 0031963183 scopus 로고    scopus 로고
    • Acute dystonia with thalamic and brainstem lesions after initial penicillamine treatment in Wilson's disease
    • Huang CC, Chu NS (1998) Acute dystonia with thalamic and brainstem lesions after initial penicillamine treatment in Wilson's disease. Eur Neurol 39:32-37
    • (1998) Eur Neurol , vol.39 , pp. 32-37
    • Huang, C.C.1    Chu, N.S.2
  • 99
    • 0027284843 scopus 로고
    • Wilson's disease: MRI demonstration of cavitations in basal ganglia and thalami
    • Sener RN (1993) Wilson's disease: MRI demonstration of cavitations in basal ganglia and thalami. Pediatr Radiol 23:157
    • (1993) Pediatr Radiol , vol.23 , pp. 157
    • Sener, R.N.1
  • 101
    • 0029877302 scopus 로고    scopus 로고
    • Wilson's disease: Resolution of MRI lesions following long-term oral zinc therapy
    • Huang CC, Chu NS (1996) Wilson's disease: Resolution of MRI lesions following long-term oral zinc therapy. Acta Neurol Scand 93:215-218
    • (1996) Acta Neurol Scand , vol.93 , pp. 215-218
    • Huang, C.C.1    Chu, N.S.2
  • 102
    • 33645388889 scopus 로고    scopus 로고
    • Hepatic encephalopathy: A neurochemical, and neurophysiological study
    • Binesh N, Huda A, Thomas MA et al (2006) Hepatic encephalopathy: A neurochemical, and neurophysiological study. J Appl Clin Med Phys 7:86-96
    • (2006) J Appl Clin Med Phys , vol.7 , pp. 86-96
    • Binesh, N.1    Huda, A.2    Thomas, M.A.3
  • 103
    • 22144471932 scopus 로고    scopus 로고
    • Fluid-attenuated inversion-recovery MR imaging in schizophrenia-associated with idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome)
    • Miyaoka T, Yasukawa R, Mihara T et al (2005) Fluid-attenuated inversion-recovery MR imaging in schizophrenia-associated with idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). Eur Psychiatry 20:327-331
    • (2005) Eur Psychiatry , vol.20 , pp. 327-331
    • Miyaoka, T.1    Yasukawa, R.2    Mihara, T.3
  • 104
    • 0036636381 scopus 로고    scopus 로고
    • Thalamic involvement in a patient with kernikterus
    • Yilmaz Y, Ekinci G (2002) Thalamic involvement in a patient with kernikterus. Eur Radiol 12:1837-1839
    • (2002) Eur Radiol , vol.12 , pp. 1837-1839
    • Yilmaz, Y.1    Ekinci, G.2
  • 105
    • 0030856405 scopus 로고    scopus 로고
    • Initial and follow-up MRI in a case of early diagnosed Reye's syndrome
    • Ozdoba C, Pfenninger J, Schroth G (1997) Initial and follow-up MRI in a case of early diagnosed Reye's syndrome. Neuroradiology 39:495-498
    • (1997) Neuroradiology , vol.39 , pp. 495-498
    • Ozdoba, C.1    Pfenninger, J.2    Schroth, G.3
  • 106
    • 0030694873 scopus 로고    scopus 로고
    • Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: Observations in distinguishing genetic-metabolic from acquired causes
    • Hoon AH Jr, Reinhardt EM, Kelley RI, Breiter SN, Morton DH, Naidu SB, Johnston MV (1997) Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: Observations in distinguishing genetic-metabolic from acquired causes. J Pediatr 131:240-245
    • (1997) J Pediatr , vol.131 , pp. 240-245
    • Hoon Jr., A.H.1    Reinhardt, E.M.2    Kelley, R.I.3    Breiter, S.N.4    Morton, D.H.5    Naidu, S.B.6    Johnston, M.V.7
  • 107
    • 1942425094 scopus 로고    scopus 로고
    • Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease
    • Schonberger S, Schweiger B, Schwahn B, Schwarz M, Wendel U (2004) Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease. Mol Genet Metab 82:69-75
    • (2004) Mol Genet Metab , vol.82 , pp. 69-75
    • Schonberger, S.1    Schweiger, B.2    Schwahn, B.3    Schwarz, M.4    Wendel, U.5
  • 108
    • 1642581755 scopus 로고    scopus 로고
    • Neonatal citrullemia: Comparison of conventional MR, diffusion-weighted, and diffusion tensor findings
    • Majoie CB, Mourmans JM, Akkerman EM, Duran M, Poll-The BT (2004) Neonatal citrullemia: Comparison of conventional MR, diffusion-weighted, and diffusion tensor findings. AJNR Am J Neuroradiol 25:32-35
    • (2004) AJNR Am J Neuroradiol , vol.25 , pp. 32-35
    • Majoie, C.B.1    Mourmans, J.M.2    Akkerman, E.M.3    Duran, M.4    Poll-The, B.T.5
  • 109
    • 0141892830 scopus 로고    scopus 로고
    • Osmotic demyelination syndrome: Reversible MRI findings in bilateral cortical lesions
    • Takei Y, Akahane C, Ikeda S (2003) Osmotic demyelination syndrome: reversible MRI findings in bilateral cortical lesions. Intern Med 42:867-870
    • (2003) Intern Med , vol.42 , pp. 867-870
    • Takei, Y.1    Akahane, C.2    Ikeda, S.3
  • 111
    • 0343986301 scopus 로고    scopus 로고
    • CT and MRI in severe hypophosphataemia with central nervous system involvement
    • Weber U, Huppe T, Niehaus L (2000) CT and MRI in severe hypophosphataemia with central nervous system involvement. Neuroradiology 42:112-114
    • (2000) Neuroradiology , vol.42 , pp. 112-114
    • Weber, U.1    Huppe, T.2    Niehaus, L.3
  • 112
    • 0033437172 scopus 로고    scopus 로고
    • Acute necrotising encephalopathy of childhood after exanthema subitum outside Japan or Taiwan
    • Porto L, Lanferman H, Moller-Hartmann W, Jacobi G, Zanella F (1999) Acute necrotising encephalopathy of childhood after exanthema subitum outside Japan or Taiwan. Neuroradiology 41:732-734
    • (1999) Neuroradiology , vol.41 , pp. 732-734
    • Porto, L.1    Lanferman, H.2    Moller-Hartmann, W.3    Jacobi, G.4    Zanella, F.5
  • 113
    • 0038458505 scopus 로고    scopus 로고
    • Autosomal dominant acute necrotizing encephalopathy
    • Neilson DE, Eiben RM, Waniewski S et al (2003) Autosomal dominant acute necrotizing encephalopathy. Neurology 61:226-230
    • (2003) Neurology , vol.61 , pp. 226-230
    • Neilson, D.E.1    Eiben, R.M.2    Waniewski, S.3
  • 114
    • 0032904142 scopus 로고    scopus 로고
    • Transient thalamic changes on MRI in a child with hypernatremia
    • Hartfield DS, Loewy JA, Yager JY (1999) Transient thalamic changes on MRI in a child with hypernatremia. Pediatr Neurol 20:60-62
    • (1999) Pediatr Neurol , vol.20 , pp. 60-62
    • Hartfield, D.S.1    Loewy, J.A.2    Yager, J.Y.3
  • 115
    • 0030893063 scopus 로고    scopus 로고
    • Familial idiopathic brain calcification with autosomal dominant inheritance
    • Kobari M, Nogawa S, Sugimoto Y, Fukuuchi Y (1997) Familial idiopathic brain calcification with autosomal dominant inheritance. Neurology 48:645-649
    • (1997) Neurology , vol.48 , pp. 645-649
    • Kobari, M.1    Nogawa, S.2    Sugimoto, Y.3    Fukuuchi, Y.4
  • 116
    • 0023901408 scopus 로고
    • Cockayne syndrome: Magnetic resonance images of the brain in a severe form with early onset
    • Nishio H, Kodama S, Matsuo T, Ichihashi M, Ito H, Fujiwara Y (1988) Cockayne syndrome: Magnetic resonance images of the brain in a severe form with early onset. J Inherit Metab Dis 11:88-102
    • (1988) J Inherit Metab Dis , vol.11 , pp. 88-102
    • Nishio, H.1    Kodama, S.2    Matsuo, T.3    Ichihashi, M.4    Ito, H.5    Fujiwara, Y.6
  • 118
    • 36149008265 scopus 로고
    • Relaxation processes in a system of two spins
    • Solomon I (1955) Relaxation processes in a system of two spins. Phys Rev 99:559-565
    • (1955) Phys Rev , vol.99 , pp. 559-565
    • Solomon, I.1
  • 119
    • 33745930076 scopus 로고
    • Relaxation effects in nuclear magnetic resonance absorption
    • Bloembergen N, Purcell EM, Pound RV (1948) Relaxation effects in nuclear magnetic resonance absorption. Phys Rev 73:679-712
    • (1948) Phys Rev , vol.73 , pp. 679-712
    • Bloembergen, N.1    Purcell, E.M.2    Pound, R.V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.