-
1
-
-
0004235298
-
-
American Psychiatric Association , 4th ed. Washington: American Psychiatric Association
-
American Psychiatric Association (1994). Diagnostic and statistical manual of mental disorders. 4th ed. Washington: American Psychiatric Association.
-
(1994)
Diagnostic and statistical manual of mental disorders
-
-
-
2
-
-
0036556486
-
Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: Genotype/phenotype relationships
-
Baumann N, Turpin JC, Lefevre M, Closch B (2002). Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships. J Physiol-Paris 96:301-306.
-
(2002)
J Physiol-Paris
, vol.96
, pp. 301-306
-
-
Baumann, N.1
Turpin, J.C.2
Lefevre, M.3
Closch, B.4
-
4
-
-
0026638338
-
Adult onset metachromatic leukodystrophy presenting as isolated peripheral neuropathy
-
Fressinaud C, Vallat JM, Masson M, Jauberteau MO, Baumann N, Hugon J (1992). Adult onset metachromatic leukodystrophy presenting as isolated peripheral neuropathy. Neurology 42:1396-1398.
-
(1992)
Neurology
, vol.42
, pp. 1396-1398
-
-
Fressinaud, C.1
Vallat, J.M.2
Masson, M.3
Jauberteau, M.O.4
Baumann, N.5
Hugon, J.6
-
5
-
-
0028148250
-
Molecular genetics of metachromatic leukodystrophy
-
Gieselmann V, Zlotogora J, Harris A, Wenger D, Morris CP (1994). Molecular genetics of metachromatic leukodystrophy. Hum Mutat 4:233-243.
-
(1994)
Hum Mutat
, vol.4
, pp. 233-243
-
-
Gieselmann, V.1
Zlotogora, J.2
Harris, A.3
Wenger, D.4
Morris, C.P.5
-
6
-
-
14144256217
-
Adult metachromatic leukodystrophy: Disorganized schizophrenia-like symptoms and post-partum depression in 2 sisters
-
Gregoric-Kumperscak H, Paschke E, Gradisnik P, Vidmar J, Umek-Bradac S (2005). Adult metachromatic leukodystrophy: disorganized schizophrenia-like symptoms and post-partum depression in 2 sisters. J Psychiatry Neurosci 30:33-36.
-
(2005)
J Psychiatry Neurosci
, vol.30
, pp. 33-36
-
-
Gregoric-Kumperscak, H.1
Paschke, E.2
Gradisnik, P.3
Vidmar, J.4
Umek-Bradac, S.5
-
7
-
-
0028957388
-
Clinical symptoms of adult metachromatic leukodystrophy and arylsulphatase pseudodeficiency
-
Hageman AT, Gabreels FJ, de Jong JG, Gabreels-Festen AA, van den Berg CJ, van Oost BA, et al. (1995). Clinical symptoms of adult metachromatic leukodystrophy and arylsulphatase pseudodeficiency. Arch Neurol 52:408-413.
-
(1995)
Arch Neurol
, vol.52
, pp. 408-413
-
-
Hageman, A.T.1
Gabreels, F.J.2
de Jong, J.G.3
Gabreels-Festen, A.A.4
van den Berg, C.J.5
van Oost, B.A.6
-
8
-
-
0033227181
-
Metachromatic leukodystrophy: A new identified mutation in arylsulphatase A: D281Y, found as a compound heterozygote with I179L in an adult onset case
-
Halsall DJ, Halligan EP, Elsey TS, Cox TM (1999). Metachromatic leukodystrophy: a new identified mutation in arylsulphatase A: D281Y, found as a compound heterozygote with I179L in an adult onset case. Hum Mutat 14:447.
-
(1999)
Hum Mutat
, vol.14
, pp. 447
-
-
Halsall, D.J.1
Halligan, E.P.2
Elsey, T.S.3
Cox, T.M.4
-
9
-
-
0026517334
-
Psychiatric disturbances in metachromatic leukodystrophy
-
Hyde TM, Ziegler JC, Weinberger DR (1992). Psychiatric disturbances in metachromatic leukodystrophy. Arch Neurol 49:401-406.
-
(1992)
Arch Neurol
, vol.49
, pp. 401-406
-
-
Hyde, T.M.1
Ziegler, J.C.2
Weinberger, D.R.3
-
10
-
-
0035130605
-
Update on genetic disorders affecting white matter
-
Kaye EM (2001). Update on genetic disorders affecting white matter. Pediatr Neurol 24:11-24.
-
(2001)
Pediatr Neurol
, vol.24
, pp. 11-24
-
-
Kaye, E.M.1
-
11
-
-
0032539976
-
Crystal structure of human arylsulphatase A: The aldehyde function and the metal ion at the active site suggest a novel mechanism for sulphate ester hydrolysis
-
Lukatela G, Krauss N, Theis K, Selmer T, Gieselmann V, von Figura K, Saenger W (1998). Crystal structure of human arylsulphatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulphate ester hydrolysis. Biochemistry 37:3654-3664.
-
(1998)
Biochemistry
, vol.37
, pp. 3654-3664
-
-
Lukatela, G.1
Krauss, N.2
Theis, K.3
Selmer, T.4
Gieselmann, V.5
von Figura, K.6
Saenger, W.7
-
12
-
-
13444274679
-
Adult metachromatic leukodystrophy without electroclinical peripheral nervous system involvement. A new mutation in the ARSA gene
-
Maracao AM, Wiest R, Schindler K, Wiesmann U, Weis J, Schroth G, et al. (2005). Adult metachromatic leukodystrophy without electroclinical peripheral nervous system involvement. A new mutation in the ARSA gene. Arch Neurol 62:309-313.
-
(2005)
Arch Neurol
, vol.62
, pp. 309-313
-
-
Maracao, A.M.1
Wiest, R.2
Schindler, K.3
Wiesmann, U.4
Weis, J.5
Schroth, G.6
-
13
-
-
0026085978
-
Molecular basis of different forms of metachromatic leukodystrophy
-
Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K, Gieselmann V (1991). Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med 324:18-22.
-
(1991)
N Engl J Med
, vol.324
, pp. 18-22
-
-
Polten, A.1
Fluharty, A.L.2
Fluharty, C.B.3
Kappler, J.4
von Figura, K.5
Gieselmann, V.6
-
14
-
-
0030460131
-
Late juvenile metachromatic leukodystrophy in three patients with similar clinical course and identical mutation on one allele
-
Tylki-Szymanska A, Berger J, Loschl B, Lugovska A, Molzer B (1996). Late juvenile metachromatic leukodystrophy in three patients with similar clinical course and identical mutation on one allele. Clin Genet 50:287-292.
-
(1996)
Clin Genet
, vol.50
, pp. 287-292
-
-
Tylki-Szymanska, A.1
Berger, J.2
Loschl, B.3
Lugovska, A.4
Molzer, B.5
-
15
-
-
0000497407
-
Metachromatic leukodystrophy
-
Scriver CR, Beaudet AL, Valle D, Sly WS, editors, 8th ed. New York: McGraw-Hill. pp
-
Von Figura K, Gieselmann V, Jaeken J (2001). Metachromatic leukodystrophy. In: Scriver CR, Beaudet AL, Valle D, Sly WS, editors. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill. pp. 3695-3725.
-
(2001)
The metabolic and molecular basis of inherited disease
, pp. 3695-3725
-
-
Von Figura, K.1
Gieselmann, V.2
Jaeken, J.3
-
16
-
-
0035717736
-
Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization: Tandem mass spectrometry
-
Whitfield PD, Sharp PC, Johnson DW, Nelson P, Meikle PJ (2001). Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization: tandem mass spectrometry. Mol Genet Metab 73:30-37.
-
(2001)
Mol Genet Metab
, vol.73
, pp. 30-37
-
-
Whitfield, P.D.1
Sharp, P.C.2
Johnson, D.W.3
Nelson, P.4
Meikle, P.J.5
|