-
1
-
-
78650661227
-
Incidence and natural history of Mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
-
Heron B, Mikaeloff Y, Froissart R, Caridade G, Maire I, et al. (2011) Incidence and natural history of Mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet A 155A: 58-68.
-
(2011)
Am J Med Genet A
, vol.155 A
, pp. 58-68
-
-
Heron, B.1
Mikaeloff, Y.2
Froissart, R.3
Caridade, G.4
Maire, I.5
-
2
-
-
36048940302
-
Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A)
-
DOI 10.1542/peds.2007-0282
-
Meyer A, Kossow K, Gal A, Muehlhausen C, Ullrich K, et al. (2007) Scoring evaluation of the natural course of Mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics 120: e1255-61. (Pubitemid 350085522)
-
(2007)
Pediatrics
, vol.120
, Issue.5
-
-
Meyer, A.1
Kossow, K.2
Gal, A.3
Muhlhausen, C.4
Ullrich, K.5
Braulke, T.6
Muschol, N.7
-
3
-
-
0027487001
-
Management of Mucopolysaccharidosis type-III
-
Cleary MA, Wraith JE (1993) Management of Mucopolysaccharidosis type-III. Arch Dis Child 69: 403-406.
-
(1993)
Arch Dis Child
, vol.69
, pp. 403-406
-
-
Cleary, M.A.1
Wraith, J.E.2
-
4
-
-
0019406297
-
Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)
-
Van De Kamp JJP, Niermeijer MF, Von Figura K, Giesberts MAH (1981) Genetic heterogeneity and clinical variability in the Sanfilippo syndrome types A B and C. Clin Genet 20: 152-160. (Pubitemid 11027917)
-
(1981)
Clinical Genetics
, vol.20
, Issue.2
, pp. 152-160
-
-
Van De, K.J.J.P.1
Niermeijer, M.F.2
Von Figura, K.3
Giesberts, M.A.H.4
-
5
-
-
38049115253
-
Clinical and genetic spectrum of Sanfilippo type c (MPS IIIC) disease in the Netherlands
-
Ruijter GJG, Valstar MJ, de Kamp JM, van der Helm RM, Durand S, et al. (2008) Clinical and genetic spectrum of Sanfilippo type c (MPS IIIC) disease in the Netherlands. Mol Genet Metab 93: 104-111.
-
(2008)
Mol Genet Metab
, vol.93
, pp. 104-111
-
-
Ruijter, G.J.G.1
Valstar, M.J.2
De Kamp, J.M.3
Van Der Helm, R.M.4
Durand, S.5
-
6
-
-
43149098040
-
Sanfilippo syndrome: A mini-review
-
Valstar MJ, Ruijter GJG, van Diggelen OP, Poorthuis BJ, Wijburg FA (2008) Sanfilippo syndrome: A mini-review. J Inherit Metab Dis 31: 240-252.
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 240-252
-
-
Valstar, M.J.1
Ruijter, G.J.G.2
Van Diggelen, O.P.3
Poorthuis, B.J.4
Wijburg, F.A.5
-
7
-
-
0029023563
-
Behaviour in Mucopolysaccharide disorders
-
Bax MCO, Colville GA (1995) Behaviour in Mucopolysaccharide disorders. Arch Dis Child 73: 77-81.
-
(1995)
Arch Dis Child
, vol.73
, pp. 77-81
-
-
Bax, M.C.O.1
Colville, G.A.2
-
8
-
-
0029896872
-
Sleep problems in children with Sanfilippo syndrome
-
Colville GA, Watters JP, Yule W, Bax M (1996) Sleep problems in children with Sanfilippo syndrome. Dev Med Child Neurol 38: 538-544. (Pubitemid 26225955)
-
(1996)
Developmental Medicine and Child Neurology
, vol.38
, Issue.6
, pp. 538-544
-
-
Colville, G.A.1
Watters, J.P.2
Yule, W.3
Bax, M.4
-
10
-
-
28444479825
-
Sleep disturbance in Sanfilippo syndrome: A parental questionnaire study
-
DOI 10.1136/adc.2004.065482
-
Fraser J, Gason AA, Wraith JE, Delatycki MB (2005) Sleep disturbance in Sanfilippo syndrome: A parental questionnaire study. Arch Dis Child 90: 1239-1242. (Pubitemid 41736308)
-
(2005)
Archives of Disease in Childhood
, vol.90
, Issue.12
, pp. 1239-1242
-
-
Fraser, J.1
Gason, A.A.2
Wraith, J.E.3
Delatycki, M.B.4
-
11
-
-
0345268640
-
Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): A survey of managing clinicians
-
DOI 10.1034/j.1399-0004.2002.620512.x
-
Fraser J, Wraith JE, Delatycki MB (2002) Sleep disturbance in Mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians. Clin Genet 62: 418-421. (Pubitemid 36372768)
-
(2002)
Clinical Genetics
, vol.62
, Issue.5
, pp. 418-421
-
-
Fraser, J.1
Wraith, J.E.2
Delatycki, M.B.3
-
12
-
-
0037214458
-
Sleep disorders in Sanfilippo syndrome: A polygraphic study
-
Mariotti P, Della Marca G, Iuvone L, Vernacotola S, Ricci R, et al. (2003) Sleep disorders in Sanfilippo syndrome: A polygraphic study. Clin Electroencephalogr 34: 18-22. (Pubitemid 36014965)
-
(2003)
Clinical EEG Electroencephalography
, vol.34
, Issue.1
, pp. 18-22
-
-
Mariotti, P.1
Della, M.G.2
Iuvone, L.3
Vernacotola, S.4
Ricci, R.5
Mennuni, G.F.6
Mazza, S.7
-
14
-
-
0035864963
-
Sleep estimation from wrist movement quantified by different actigraphic modalities
-
DOI 10.1016/S0165-0270(00)00364-2, PII S0165027000003642
-
Jean-Louis G, Kripke DF, Mason WJ, Elliott JA, Youngstedt SD (2001) Sleep estimation from wrist movement quantified by different actigraphic modalities. J Neurosci Methods 105: 185-191. (Pubitemid 32223939)
-
(2001)
Journal of Neuroscience Methods
, vol.105
, Issue.2
, pp. 185-191
-
-
Jean-Louis, G.1
Kripke, D.F.2
Mason, W.J.3
Elliott, J.A.4
Youngstedt, S.D.5
-
16
-
-
0034968956
-
Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome
-
DOI 10.1067/mpd.2001.115018
-
De Leersnyder H, De Blois MC, Claustrat B, Romana S, Albrecht U, et al. (2001) Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. J Pediatr 139: 111-116. (Pubitemid 32613996)
-
(2001)
Journal of Pediatrics
, vol.139
, Issue.1
, pp. 111-116
-
-
De Leersnyder, H.1
De Blois, M.-C.2
Claustrat, B.3
Romana, S.4
Albrecht, U.5
Von Kleist-Retzow, J.-C.6
Delobel, B.7
Viot, G.8
Lyonnet, S.9
Vekemans, M.10
Munnich, A.11
-
17
-
-
33645108500
-
Impairment of the melatonin rhythm in children with Sanfilippo syndrome
-
Guerrero JM, Pozo D, Diaz-Rodriguez JL, Martinez-Cruz F, Vela-Campos F (2006) Impairment of the melatonin rhythm in children with Sanfilippo syndrome. J Pineal Res 40: 192-193.
-
(2006)
J Pineal Res
, vol.40
, pp. 192-193
-
-
Guerrero, J.M.1
Pozo, D.2
Diaz-Rodriguez, J.L.3
Martinez-Cruz, F.4
Vela-Campos, F.5
-
18
-
-
77949261494
-
Circadian rhythm and suprachiasmatic nucleus alterations in the mouse model of Mucopolysaccharidosis IIIB
-
Canal MM, Wilkinson FL, Cooper JD, Wraith JE, Wynn R, et al. (2010) Circadian rhythm and suprachiasmatic nucleus alterations in the mouse model of Mucopolysaccharidosis IIIB. Behav Brain Res 209: 212-220.
-
(2010)
Behav Brain Res
, vol.209
, pp. 212-220
-
-
Canal, M.M.1
Wilkinson, F.L.2
Cooper, J.D.3
Wraith, J.E.4
Wynn, R.5
-
19
-
-
76349090897
-
Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from Mucopolysaccharidosis I, IIIA and IIIB mice
-
Langford-Smith K, Arasaradnam M, Wraith JE, Wynn R, Bigger BW (2010) Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from Mucopolysaccharidosis I, IIIA and IIIB mice. Mol Genet Metab 99: 269-274.
-
(2010)
Mol Genet Metab
, vol.99
, pp. 269-274
-
-
Langford-Smith, K.1
Arasaradnam, M.2
Wraith, J.E.3
Wynn, R.4
Bigger, B.W.5
-
20
-
-
79955694295
-
Heparin cofactor II-thrombin complex and dermatan sulphate:Chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in Mucopolysaccharide diseases
-
Langford-Smith KJ, Mercer J, Petty J, Tylee K, Church H, et al. (2011) Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in Mucopolysaccharide diseases. J Inherit Metab Dis 34: 499-508.
-
(2011)
J Inherit Metab Dis
, vol.34
, pp. 499-508
-
-
Langford-Smith, K.J.1
Mercer, J.2
Petty, J.3
Tylee, K.4
Church, H.5
-
21
-
-
0026217694
-
Influence of melatonin treatment on human circadian rhythmicity before and after a simulated 9-hr time shift
-
Samel A, Wegmann HM, Vejvoda M, Maass H, Gundel A, et al. (1991) Influence of melatonin treatment on human circadian rhythmicity before and after a simulated 9-hr time shift. J Biol Rhythms 6: 235-248.
-
(1991)
J Biol Rhythms
, vol.6
, pp. 235-248
-
-
Samel, A.1
Wegmann, H.M.2
Vejvoda, M.3
Maass, H.4
Gundel, A.5
-
22
-
-
0034671236
-
The Children's Sleep Habits Questionnaire (CSHQ): Psychometric properties of a survey instrument for school-aged children
-
Owens JA, Spirito A, McGuinn M (2000) The Children's Sleep Habits Questionnaire (CSHQ): Psychometric properties of a survey instrument for school-aged children. Sleep 23: 1043-1051. (Pubitemid 32046173)
-
(2000)
Sleep
, vol.23
, Issue.8
, pp. 1043-1051
-
-
Owens, J.A.1
Spirito, A.2
McGuinn, M.3
-
23
-
-
0033083201
-
Estimating sleep patterns with activity monitoring in children and adolescents: How many nights are necessary for reliable measures?
-
Acebo C, Sadeh A, Seifer R, Tzischinsky O, Wolfson AR, et al. (1999) Estimating sleep patterns with activity monitoring in children and adolescents: How many nights are necessary for reliable measures? Sleep 22: 95-103. (Pubitemid 29097903)
-
(1999)
Sleep
, vol.22
, Issue.1
, pp. 95-103
-
-
Acebo, C.1
Sadeh, A.2
Seifer, R.3
Tzischinsky, O.4
Wolfson, A.R.5
Hafer, A.6
Carskadon, M.A.7
-
24
-
-
84859639513
-
Normal sleep patterns in infants and children: A systematic review of observational studies
-
Galland BC, Taylor BJ, Elder DE, Herbison P (2012) Normal sleep patterns in infants and children: A systematic review of observational studies. Sleep Med Rev 16: 213-222.
-
(2012)
Sleep Med Rev
, vol.16
, pp. 213-222
-
-
Galland, B.C.1
Taylor, B.J.2
Elder, D.E.3
Herbison, P.4
-
25
-
-
0037087176
-
Actigraph placement and sleep estimation in children
-
Paavonen EJ, Fjallberg M, Steenari MR, Aronen ET (2002) Actigraph placement and sleep estimation in children. Sleep 25: 235-237. (Pubitemid 34193586)
-
(2002)
Sleep
, vol.25
, Issue.2
, pp. 235-237
-
-
Paavonen, E.J.1
Fjallberg, M.2
Steenari, M.-R.3
Aronen, E.T.4
-
26
-
-
33750130178
-
The psychosocial problems of children with narcolepsy and those with excessive daytime sleepiness of uncertain origin
-
DOI 10.1542/peds.2006-0647
-
Stores G, Montgomery P, Wiggs L (2006) The psychosocial problems of children with narcolepsy and those with excessive daytime sleepiness of uncertain origin. Pediatrics 118: E1116-E1123. (Pubitemid 46393760)
-
(2006)
Pediatrics
, vol.118
, Issue.4
-
-
Stores, G.1
Montgomery, P.2
Wiggs, L.3
-
27
-
-
38949124075
-
Children's Objective and Subjective Sleep Disruptions: Links With Afternoon Cortisol Levels
-
DOI 10.1037/0278-6133.27.1.26, PII S0278613308600053
-
El-Sheikh M, Buckhalt JA, Keller PS, Granger DA (2008) Children's objective and subjective sleep disruptions: Links with afternoon cortisol levels. Health Psychol 27: 26-33. (Pubitemid 351215344)
-
(2008)
Health Psychology
, vol.27
, Issue.1
, pp. 26-33
-
-
El-Sheikh, M.1
Buckhalt, J.A.2
Keller, P.S.3
Granger, D.A.4
-
28
-
-
79957997653
-
Normative values of polysomnographic parameters in childhood and adolescence: Quantitative sleep parameters
-
Scholle S, Beyer U, Bernhard M, Eichholz S, Erler T, et al. (2011) Normative values of polysomnographic parameters in childhood and adolescence: Quantitative sleep parameters. Sleep Med 12: 542-549.
-
(2011)
Sleep Med
, vol.12
, pp. 542-549
-
-
Scholle, S.1
Beyer, U.2
Bernhard, M.3
Eichholz, S.4
Erler, T.5
-
29
-
-
78649653058
-
Polysomnographic characteristics in patients with Mucopolysaccharidoses
-
Lin HY, Chen MR, Lin CC, Chen CP, Lin DS, et al. (2010) Polysomnographic characteristics in patients with Mucopolysaccharidoses. Pediatr Pulmonol 45: 1205-1212.
-
(2010)
Pediatr Pulmonol
, vol.45
, pp. 1205-1212
-
-
Lin, H.Y.1
Chen, M.R.2
Lin, C.C.3
Chen, C.P.4
Lin, D.S.5
-
30
-
-
35248835048
-
Upper airway obstructive disease in mucopolysaccharidoses: Polysomnography, computed tomography and nasal endoscopy findings
-
DOI 10.1007/s10545-007-0555-5
-
Santamaria F, Andreucci MV, Parenti G, Polverino M, Viggiano D, et al. (2007) Upper airway obstructive disease in Mucopolysaccharidoses: Polysomnography, computed tomography and nasal endoscopy findings. J Inherit Metab Dis 30: 743-749. (Pubitemid 47559887)
-
(2007)
Journal of Inherited Metabolic Disease
, vol.30
, Issue.5
, pp. 743-749
-
-
Santamaria, F.1
Andreucci, M.V.2
Parenti, G.3
Polverino, M.4
Viggiano, D.5
Montella, S.6
Cesaro, A.7
Ciccarelli, R.8
Capaldo, B.9
Andria, G.10
-
31
-
-
7944232485
-
Systematic review of melatonin treatment in children with neurodevelopmental disabilities and sleep impairment
-
DOI 10.1017/S001216220400132X
-
Phillips L, Appleton RE (2004) Systematic review of melatonin treatment in children with neurodevelopmental disabilities and sleep impairment. Dev Med Child Neurol 46: 771-775. (Pubitemid 39468026)
-
(2004)
Developmental Medicine and Child Neurology
, vol.46
, Issue.11
, pp. 771-775
-
-
Phillips, L.1
Appleton, R.E.2
-
32
-
-
0005130439
-
Clinical trials of controlled-release melatonin in children with sleep-wake cycle disorders
-
Jan JE, Hamilton D, Seward N, Fast DK, Freeman RD, et al. (2000) Clinical trials of controlled-release melatonin in children with sleep-wake cycle disorders. J Pineal Res 29: 34-39. (Pubitemid 30449699)
-
(2000)
Journal of Pineal Research
, vol.29
, Issue.1
, pp. 34-39
-
-
Jan, J.E.1
Hamilton, D.2
Seward, N.3
Fast, D.K.4
Freeman, R.D.5
Laudon, M.6
-
33
-
-
0141859878
-
Medication for sleep-wake disorders
-
Stores G (2003) Medication for sleep-wake disorders. Arch Dis Child 88: 899-903.
-
(2003)
Arch Dis Child
, vol.88
, pp. 899-903
-
-
Stores, G.1
-
34
-
-
18144441631
-
Pro-convulsant effects of oral melatonin in neurologically disabled children
-
Sheldon SH (1998) Pro-convulsant effects of oral melatonin in neurologically disabled children. Lancet 351: 1254-1254.
-
(1998)
Lancet
, vol.351
, pp. 1254-1254
-
-
Sheldon, S.H.1
-
35
-
-
79956260490
-
Mucopolysaccharidosis type III (sanfilippo syndrome): Emerging treatment strategies
-
de Ruijter J, Valstar MJ, Wijburg FA (2011) Mucopolysaccharidosis type III (sanfilippo syndrome): Emerging treatment strategies. Curr Pharm Biotechnol 12: 923-930.
-
(2011)
Curr Pharm Biotechnol
, vol.12
, pp. 923-930
-
-
De Ruijter, J.1
Valstar, M.J.2
Wijburg, F.A.3
|