-
1
-
-
0002636585
-
Galactosemia
-
Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
-
Holton JB, Walter JH, Tyfield LA. Galactosemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited diseases. 8th ed. New York: McGraw-Hill; 2001. p. 1553-87.
-
(2001)
The Metabolic and Molecular Bases of Inherited Diseases. 8th Ed.
, pp. 1553-1587
-
-
Holton, J.B.1
Walter, J.H.2
Tyfield, L.A.3
-
2
-
-
0027231342
-
Denk bij zieke kinderen bij wie uiteindelijk geen bevredigende diagnose wordt gesteld, aan een erfelijke stofwisselingsziekte
-
Bakker HD. Denk bij zieke kinderen bij wie uiteindelijk geen bevredigende diagnose wordt gesteld, aan een erfelijke stofwisselingsziekte. Ned Tijdschr Geneeskd 1993;137:937-40.
-
(1993)
Ned Tijdschr Geneeskd
, vol.137
, pp. 937-940
-
-
Bakker, H.D.1
-
3
-
-
0025648036
-
Long-term prognosis in galactosemia: Results of a survey of 350 cases
-
Waggoner DD, Buist NRM, Donnell GN. Long-term prognosis in galactosemia: results of a survey of 350 cases. J Inherit Metab Dis 1990;13:802-18.
-
(1990)
J Inherit Metab Dis
, vol.13
, pp. 802-818
-
-
Waggoner, D.D.1
Buist, N.R.M.2
Donnell, G.N.3
-
5
-
-
0000429065
-
Galactosemia today: The enigma and the challenge
-
Segal S. Galactosemia today: the enigma and the challenge. J Inherit Metab Dis 1998;21:445-71.
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 445-471
-
-
Segal, S.1
-
6
-
-
0028879596
-
Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia
-
Berry GT, Nissim I, Lin Z, Mazur AT, Gibson JB, Segal S. Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Lancet 1995;346:1073-4.
-
(1995)
Lancet
, vol.346
, pp. 1073-1074
-
-
Berry, G.T.1
Nissim, I.2
Lin, Z.3
Mazur, A.T.4
Gibson, J.B.5
Segal, S.6
-
7
-
-
0026492422
-
Serum lysosomal enzyme abnormalities in galactosaemia
-
Jaeken J, Kint J, Spaapen LJM. Serum lysosomal enzyme abnormalities in galactosaemia. Lancet 1992;340:1472-3.
-
(1992)
Lancet
, vol.340
, pp. 1472-1473
-
-
Jaeken, J.1
Kint, J.2
Spaapen, L.J.M.3
-
8
-
-
0037389974
-
Galactosemie in Nederland, opnieuw beschouwd
-
Bosch AM, Klerk JBC de, Poll-The BT, Spronsen FJ van, Wanders RJA, Bakker HD. Galactosemie in Nederland, opnieuw beschouwd. Tijdschr Kindergeneeskd 2003;71:49-53.
-
(2003)
Tijdschr Kindergeneeskd
, vol.71
, pp. 49-53
-
-
Bosch, A.M.1
De Klerk, J.B.C.2
Poll-The, B.T.3
Van Spronsen, F.J.4
Wanders, R.J.A.5
Bakker, H.D.6
-
9
-
-
0026446459
-
The human galactose-1-phosphate uridyltransferase gene
-
Leslie ND, Immerman EB, Flach JE, Florez M, Fridovich-Keil J, Elsas LJ. The human galactose-1-phosphate uridyltransferase gene. Genomics 1992;14:474-80.
-
(1992)
Genomics
, vol.14
, pp. 474-480
-
-
Leslie, N.D.1
Immerman, E.B.2
Flach, J.E.3
Florez, M.4
Fridovich-Keil, J.5
Elsas, L.J.6
-
10
-
-
0032973185
-
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene
-
Tyfield L, Reichardt J, Fridovich-Keil J, Croke DT, Elsas 2nd JL, Strobl W, et al. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat 1999;13:417-30.
-
(1999)
Hum Mutat
, vol.13
, pp. 417-430
-
-
Tyfield, L.1
Reichardt, J.2
Fridovich-Keil, J.3
Croke, D.T.4
Elsas II, J.L.5
Strobl, W.6
-
11
-
-
0030051198
-
A prevalent mutation for galactosemia among black Americans
-
Lai K, Langley SD, Singh RH, Dembure PP, Hjelm LN, Elsas 2nd LJ. A prevalent mutation for galactosemia among black Americans. J Pediatr 1996;128:89-95.
-
(1996)
J Pediatr
, vol.128
, pp. 89-95
-
-
Lai, K.1
Langley, S.D.2
Singh, R.H.3
Dembure, P.P.4
Hjelm, L.N.5
Elsas II, L.J.6
-
12
-
-
0031029549
-
Molecular basis for Duarte and Los Angeles variant galactosemia
-
Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ. Molecular basis for Duarte and Los Angeles variant galactosemia. Am J Hum Genet 1997;60:366-72.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 366-372
-
-
Langley, S.D.1
Lai, K.2
Dembure, P.P.3
Hjelm, L.N.4
Elsas, L.J.5
-
13
-
-
0033799301
-
Molecular basis of disorders of human galactose metabolism: Past, present, and future
-
Novelli G, Reichardt JKV. Molecular basis of disorders of human galactose metabolism: past, present, and future. Mol Genet Metab 2000;71:62-5.
-
(2000)
Mol Genet Metab
, vol.71
, pp. 62-65
-
-
Novelli, G.1
Reichardt, J.K.V.2
-
14
-
-
0034839364
-
Large-scale molecular screening for galactosemia alleles in a pan-ethnic population
-
Suzuki M, West C, Beutler E. Large-scale molecular screening for galactosemia alleles in a pan-ethnic population. Hum Genet 2001;109:210-5.
-
(2001)
Hum Genet
, vol.109
, pp. 210-215
-
-
Suzuki, M.1
West, C.2
Beutler, E.3
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