-
1
-
-
0000924012
-
Homocystinuria due to cystathionine, synthetase deficiency: The mode of inheritance
-
Finkelstein JD, Mudd SH, Irreveerre F, Laster L. Homocystinuria due to cystathionine, synthetase deficiency: the mode of inheritance. Science 1964;146:785-787.
-
(1964)
Science
, vol.146
, pp. 785-787
-
-
Finkelstein, J.D.1
Mudd, S.H.2
Irreveerre, F.3
Laster, L.4
-
2
-
-
0032915831
-
Cystathionine beta-synthase mutations in homocystinuria
-
Kraus JP, Janosik M, Kozich V, et al. Cystathionine beta-synthase mutations in homocystinuria. Hum Mutat 1999;13:362-375.
-
(1999)
Hum Mutat
, vol.13
, pp. 362-375
-
-
Kraus, J.P.1
Janosik, M.2
Kozich, V.3
-
3
-
-
0021894152
-
The natural history of homocystinuria due to cystathionine beta-synthase deficiency
-
Mudd SH, Skovby R, Levy HL, et al. The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet 1985;37:1-31.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 1-31
-
-
Mudd, S.H.1
Skovby, R.2
Levy, H.L.3
-
4
-
-
0025779822
-
Two sisters with generalized dystonia associated with homocystinuria
-
Berardelli A, Thompson PD, Zaccaria M, Giardini O, D'Efemia P, Massoud R, Manfredi M. Two sisters with generalized dystonia associated with homocystinuria. Mov Disord 1991;6:163-165.
-
(1991)
Mov Disord
, vol.6
, pp. 163-165
-
-
Berardelli, A.1
Thompson, P.D.2
Zaccaria, M.3
Giardini, O.4
D'Efemia, P.5
Massoud, R.6
Manfredi, M.7
-
5
-
-
0014731554
-
A case of homocystinuria with a dystonic neurological syndrome
-
Hagberg B, Hambreus L, Bensch K. A case of homocystinuria with a dystonic neurological syndrome. Neuropaediatrie 1970,1:337-343.
-
(1970)
Neuropaediatrie
, vol.1
, pp. 337-343
-
-
Hagberg, B.1
Hambreus, L.2
Bensch, K.3
-
6
-
-
0033866045
-
Homocystinuria with generalized chorea, and other movement disorders: A case report
-
Wada Y, Kita Y, Yamamoto T, Sawai K, Ueda S. Homocystinuria with generalized chorea, and other movement disorders: a case report. No To Shinkei 2000;52:629-631.
-
(2000)
No To Shinkei
, vol.52
, pp. 629-631
-
-
Wada, Y.1
Kita, Y.2
Yamamoto, T.3
Sawai, K.4
Ueda, S.5
-
8
-
-
0035987973
-
Treatment of extrapyramidal symptoms in a patient with a homozygous homocystinuria
-
Burlina AP, Edni C, Burlina AB. Treatment of extrapyramidal symptoms in a patient with a homozygous homocystinuria. J Inherit Metab Dis 2002;25:135-136.
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 135-136
-
-
Burlina, A.P.1
Edni, C.2
Burlina, A.B.3
-
9
-
-
4444359122
-
Two siblings with homocystinuria presenting with dystonia and parkinsonism
-
Ekinci B, Apaydin H, Vural M, Ozekmekci S. Two siblings with homocystinuria presenting with dystonia and parkinsonism. Mov Disord 2004;8:962-988.
-
(2004)
Mov Disord
, vol.8
, pp. 962-988
-
-
Ekinci, B.1
Apaydin, H.2
Vural, M.3
Ozekmekci, S.4
-
12
-
-
0037451890
-
Impairment of energy metabolism in the hippocampus of rats subjected to chemically-induced hyperhomocystinemia
-
Streck EL, Matte C, Vieira PS, Calcagnotto T, Wannmacher CM, Wajner M, Wyse AT. Impairment of energy metabolism in the hippocampus of rats subjected to chemically-induced hyperhomocystinemia. Biochim Biophys Acta 2003;1637:187-192.
-
(2003)
Biochim Biophys Acta
, vol.1637
, pp. 187-192
-
-
Streck, E.L.1
Matte, C.2
Vieira, P.S.3
Calcagnotto, T.4
Wannmacher, C.M.5
Wajner, M.6
Wyse, A.T.7
-
13
-
-
0141506060
-
Homocystiene inhibits butyrylcholinesterase activity in rat serum
-
Stefanello FM, Zugno AI, Wannmacher CM, Wajner M, Wyse AT. Homocystiene inhibits butyrylcholinesterase activity in rat serum. Metab Brain Dis 2003;18:187-194.
-
(2003)
Metab Brain Dis
, vol.18
, pp. 187-194
-
-
Stefanello, F.M.1
Zugno, A.I.2
Wannmacher, C.M.3
Wajner, M.4
Wyse, A.T.5
-
14
-
-
0038509956
-
Invitro effect of homocysteine, on some parameters of oxidative stress in rat hippocampus
-
Streck EL, Vieira PS, Wannmacher CM, Dutra-Filho CS, Wajner M, Wyse AT. Invitro effect of homocysteine, on some parameters of oxidative stress in rat hippocampus. Metab Brain Dis 2003;18: 147-154.
-
(2003)
Metab Brain Dis
, vol.18
, pp. 147-154
-
-
Streck, E.L.1
Vieira, P.S.2
Wannmacher, C.M.3
Dutra-Filho, C.S.4
Wajner, M.5
Wyse, A.T.6
-
15
-
-
0038342021
-
Brain energy metabolism is compromise by the metabolites accumulating in homocystinuria
-
Streck EL, Delwing D, Tagliari B, Matte C, Wannmacher CM, Wajner M, Wyse AT. Brain energy metabolism is compromise by the metabolites accumulating in homocystinuria. Neurochem Int 2003;43:597-602.
-
(2003)
Neurochem Int
, vol.43
, pp. 597-602
-
-
Streck, E.L.1
Delwing, D.2
Tagliari, B.3
Matte, C.4
Wannmacher, C.M.5
Wajner, M.6
Wyse, A.T.7
-
16
-
-
0022553167
-
Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism
-
Clayton PT, Smith I, Harding B, Hyland K, Leonard JV, Leeming RJ. Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism. J Neurol Neurosurg Psychiatry 1986:49:920-927.
-
(1986)
J Neurol Neurosurg Psychiatry
, vol.49
, pp. 920-927
-
-
Clayton, P.T.1
Smith, I.2
Harding, B.3
Hyland, K.4
Leonard, J.V.5
Leeming, R.J.6
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