-
1
-
-
7944226945
-
High tolerance for oral galactose in classical galactosaemia: Dietary implications
-
15499058 10.1136/adc.2003.037671 1:STN:280:DC%2BD2crislentA%3D%3D
-
Bosch AM, Bakker HD, Wenniger-Prick LJ, Wanders RJ, Wijburg FA (2004a) High tolerance for oral galactose in classical galactosaemia: dietary implications. Arch Dis Child 89(11):1034-1036
-
(2004)
Arch Dis Child
, vol.89
, Issue.11
, pp. 1034-1036
-
-
Bosch, A.M.1
Bakker, H.D.2
Wenniger-Prick, L.J.3
Wanders, R.J.4
Wijburg, F.A.5
-
2
-
-
3242877987
-
Living with classical galactosemia: Health-related quality of life consequences
-
15121984 10.1542/peds.113.5.e423
-
Bosch AM, Grootenhuis MA, Bakker HD, Heijmans HS, Wijburg FA, Last BF (2004b) Living with classical galactosemia: health-related quality of life consequences. Pediatrics 113(5):e423-e428
-
(2004)
Pediatrics
, vol.113
, Issue.5
-
-
Bosch, A.M.1
Grootenhuis, M.A.2
Bakker, H.D.3
Heijmans, H.S.4
Wijburg, F.A.5
Last, B.F.6
-
3
-
-
76949086577
-
Remarkable differences: The course of life of young adults with galactosaemia and PKU
-
19816786 10.1007/s10545-009-1253-2 1:STN:280:DC%2BC3c%2Fjs1yhsw%3D%3D
-
Bosch AM, Maurice-Stam H, Wijburg FA, Grootenhuis MA (2009) Remarkable differences: the course of life of young adults with galactosaemia and PKU. J Inherit Metab Dis 32(6):706-712
-
(2009)
J Inherit Metab Dis
, vol.32
, Issue.6
, pp. 706-712
-
-
Bosch, A.M.1
Maurice-Stam, H.2
Wijburg, F.A.3
Grootenhuis, M.A.4
-
4
-
-
31344482675
-
Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria
-
8828606 10.1007/PL00014245
-
Burgard P, Schmidt E, Rupp A, Schneider W, Bremer HJ (1996) Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria. Eur J Pediatr 155(Suppl 1):S33-S38
-
(1996)
Eur J Pediatr
, vol.155
, Issue.SUPPL. 1
-
-
Burgard, P.1
Schmidt, E.2
Rupp, A.3
Schneider, W.4
Bremer, H.J.5
-
5
-
-
79955699251
-
Psychosocial developmental milestones in men with classic galactosemia
-
21350966 10.1007/s10545-011-9290-z
-
Gubbels CS, Maurice-Stam H, Berry GT, et al.(2011) Psychosocial developmental milestones in men with classic galactosemia. J Inherit Metab Dis 34(2):415-419
-
(2011)
J Inherit Metab Dis
, vol.34
, Issue.2
, pp. 415-419
-
-
Gubbels, C.S.1
Maurice-Stam, H.2
Berry, G.T.3
-
6
-
-
79955701315
-
Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia
-
21347587 10.1007/s10545-011-9297-5 1:CAS:528:DC%2BC3MXjslChtr8%3D
-
Hoffmann B, Wendel U, Schweitzer-Krantz S (2011) Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia. J Inherit Metab Dis 34(2):421-427
-
(2011)
J Inherit Metab Dis
, vol.34
, Issue.2
, pp. 421-427
-
-
Hoffmann, B.1
Wendel, U.2
Schweitzer-Krantz, S.3
-
7
-
-
13444274445
-
Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia
-
10.1016/j.ymgme.2004.09.013 1:CAS:528:DC%2BD2MXptlGmuw%3D%3D
-
Huidekoper HH, Bosch AM, van der Crabben SN, Sauerwein HP, Ackermans MT, Wijburg FA (2005) Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia. Mol Genet Metabol 84(3):265-272
-
(2005)
Mol Genet Metabol
, vol.84
, Issue.3
, pp. 265-272
-
-
Huidekoper, H.H.1
Bosch, A.M.2
Van Der Crabben, S.N.3
Sauerwein, H.P.4
Ackermans, M.T.5
Wijburg, F.A.6
-
8
-
-
12244298937
-
Short-term dietary interventions in children and adolescents with treated phenylketonuria: Effects on neuropsychological outcome of a well-controlled population
-
12555935 10.1023/A:1021205713674 1:CAS:528:DC%2BD38XptFejsbk%3D
-
Huijbregts SC, de Sonneville LM, Licht R, van Spronsen FJ, Sergean JA (2002) Short-term dietary interventions in children and adolescents with treated phenylketonuria: effects on neuropsychological outcome of a well-controlled population. J Inherit Metab Dis 25(6):419-430
-
(2002)
J Inherit Metab Dis
, vol.25
, Issue.6
, pp. 419-430
-
-
Huijbregts, S.C.1
De Sonneville, L.M.2
Licht, R.3
Van Spronsen, F.J.4
Sergean, J.A.5
-
9
-
-
0022580834
-
Gonadal function in patients with galactosaemia
-
3091920 10.1007/BF01799450 1:STN:280:DyaL28zgvFWksg%3D%3D
-
Kaufman FR, Donnell GN, Roe TF, Kogut MD (1986) Gonadal function in patients with galactosaemia. J Inherit Metab Dis 9(2):140-146
-
(1986)
J Inherit Metab Dis
, vol.9
, Issue.2
, pp. 140-146
-
-
Kaufman, F.R.1
Donnell, G.N.2
Roe, T.F.3
Kogut, M.D.4
-
10
-
-
0004470620
-
Normierung der Skalen 'Profil der Lebensqualität Chronisch Kranker' an einer repräsentativen deutschen Stichprobe [Standardization of the Questionnaire 'Quality of Life with Chronic Disease' on a Representative German Sample]
-
10.1024//0170-1789.22.2.100
-
Laubach W, Schröder C, Siegrist J, Brähler E (2001) Normierung der Skalen 'Profil der Lebensqualität Chronisch Kranker' an einer repräsentativen deutschen Stichprobe [Standardization of the questionnaire 'Quality of life with chronic disease' on a representative German sample]. Zeitschr Different Diagnost Psychol 2:100-110
-
(2001)
Zeitschr Different Diagnost Psychol
, vol.2
, pp. 100-110
-
-
Laubach, W.1
Schröder, C.2
Siegrist, J.3
Brähler, E.4
-
11
-
-
5344226959
-
Bone metabolism in galactosemia
-
15454106 10.1016/j.bone.2004.06.004 1:CAS:528:DC%2BD2cXnvV2rtbw%3D
-
Panis B, Forget PP, van Kroonenburgh MJ, et al.(2004) Bone metabolism in galactosemia. Bone 35(4):982-987
-
(2004)
Bone
, vol.35
, Issue.4
, pp. 982-987
-
-
Panis, B.1
Forget, P.P.2
Van Kroonenburgh, M.J.3
-
12
-
-
50149099800
-
Correlates of language impairment in children with galactosaemia
-
18649009 10.1007/s10545-008-0877-y 1:STN:280:DC%2BD1crhvFSntg%3D%3D
-
Potter NL, Lazarus JA, Johnson JM, Steine RD, Shriberg LD (2008) Correlates of language impairment in children with galactosaemia. J Inherit Metab Dis 31(4):524-532
-
(2008)
J Inherit Metab Dis
, vol.31
, Issue.4
, pp. 524-532
-
-
Potter, N.L.1
Lazarus, J.A.2
Johnson, J.M.3
Steine, R.D.4
Shriberg, L.D.5
-
13
-
-
0036315353
-
Bone mineral density in patients with classic galactosaemia
-
12089126 10.1136/adc.87.1.57 1:STN:280:DC%2BD38zksl2htQ%3D%3D
-
Rubio-Gozalbo ME, Hamming S, van Kroonenburgh MJ, Bakker JA, Vermeer C, Forget PP (2002) Bone mineral density in patients with classic galactosaemia. Arch Dis Child 87(1):57-60
-
(2002)
Arch Dis Child
, vol.87
, Issue.1
, pp. 57-60
-
-
Rubio-Gozalbo, M.E.1
Hamming, S.2
Van Kroonenburgh, M.J.3
Bakker, J.A.4
Vermeer, C.5
Forget, P.P.6
-
14
-
-
76049092024
-
Longitudinal assessment of intellectual achievement in patients with classical galactosaemia
-
20100763 10.1542/peds.2008-3325
-
Schadewaldt P, Hoffmann B, Hammen HW, Kamp G, Schweitzer-Krantz S, Wendel U (2010) Longitudinal assessment of intellectual achievement in patients with classical galactosaemia. Pediatrics 125(2):e374-381
-
(2010)
Pediatrics
, vol.125
, Issue.2
, pp. 374-381
-
-
Schadewaldt, P.1
Hoffmann, B.2
Hammen, H.W.3
Kamp, G.4
Schweitzer-Krantz, S.5
Wendel, U.6
-
15
-
-
0027985225
-
Sustained attention in adult phenylketonuria: The influence of the concurrent phenylalanine-blood-level
-
10.1080/01688639408402681 1:STN:280:DyaK2M7jvVagsw%3D%3D
-
Schmidt E, Rupp A, Burgard P, Pietz J, Weglage J, de Sonneville L (1994) Sustained attention in adult phenylketonuria: the influence of the concurrent phenylalanine-blood-level. J Clin Experiment Neuropsychol 16(5):681-688
-
(1994)
J Clin Experiment Neuropsychol
, vol.16
, Issue.5
, pp. 681-688
-
-
Schmidt, E.1
Rupp, A.2
Burgard, P.3
Pietz, J.4
Weglage, J.5
De Sonneville, L.6
-
16
-
-
0027270602
-
Long-term outcome in 134 patients with galactosaemia
-
8444204 10.1007/BF02072514 1:STN:280:DyaK3s7osFKqsw%3D%3D
-
Schweitzer S, Shin Y, Jakobs C, Brodehl J (1993) Long-term outcome in 134 patients with galactosaemia. Eur J Pediatr 152(1):36-43
-
(1993)
Eur J Pediatr
, vol.152
, Issue.1
, pp. 36-43
-
-
Schweitzer, S.1
Shin, Y.2
Jakobs, C.3
Brodehl, J.4
-
17
-
-
0033856120
-
The relationship of genotype to cognitive outcome in galactosaemia
-
10952646 10.1136/adc.83.3.248 1:STN:280:DC%2BD3cvjt1agtw%3D%3D
-
Shield JP, Wadsworth EJ, MacDonald A, et al.(2000) The relationship of genotype to cognitive outcome in galactosaemia. Arch Dis Child 83(3):248-250
-
(2000)
Arch Dis Child
, vol.83
, Issue.3
, pp. 248-250
-
-
Shield, J.P.1
Wadsworth, E.J.2
MacDonald, A.3
-
19
-
-
42549100298
-
Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU)
-
18366761 10.1186/1477-7525-6-25
-
Simon E, Schwarz M, Roos J, et al.(2008) Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health Qual Life Outcomes 6:25
-
(2008)
Health Qual Life Outcomes
, vol.6
, pp. 25
-
-
Simon, E.1
Schwarz, M.2
Roos, J.3
-
20
-
-
0034839364
-
Large-scale molecular screening for galactosemia alleles in a pan-ethnic population
-
11511927 10.1007/s004390100552 1:CAS:528:DC%2BD3MXmtVWitb4%3D
-
Suzuki M, West C, Beutler E (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population. Hum Genet 109(2):210-215
-
(2001)
Hum Genet
, vol.109
, Issue.2
, pp. 210-215
-
-
Suzuki, M.1
West, C.2
Beutler, E.3
-
21
-
-
79955842584
-
High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: A randomised, double-blind, placebo-controlled, crossover trial
-
21153445 10.1007/s10545-010-9253-9 1:CAS:528:DC%2BC3MXhtVKlsr4%3D
-
ten Hoedt AE, de Sonneville LM, Francois B, et al.(2011) High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial. J Inherit Metab Dis 34(1):165-171
-
(2011)
J Inherit Metab Dis
, vol.34
, Issue.1
, pp. 165-171
-
-
Ten Hoedt, A.E.1
De Sonneville, L.M.2
Francois, B.3
|