-
1
-
-
0027193750
-
Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions
-
Arvio M (1993a) Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions. Acta Paediatr 82: 469-471.
-
(1993)
Acta Paediatr
, vol.82
, pp. 469-471
-
-
Arvio, M.1
-
2
-
-
0027324416
-
Follow-up in patients with asoartylclucosaminuria. Part II. Adaptive skills
-
Arvio M (1993b) Follow-up in patients with asoartylclucosaminuria. Part II. Adaptive skills. Acta Paediatr 82: 590-594.
-
(1993)
Acta Paediatr
, vol.82
, pp. 590-594
-
-
Arvio, M.1
-
3
-
-
0003486098
-
-
Doctoral thesis, University of Helsinki, Finland
-
Arvio M (1993c) Life with aspartylglucosaminuria. Doctoral thesis, University of Helsinki, Finland.
-
(1993)
Life With Aspartylglucosaminuria
-
-
Arvio, M.1
-
4
-
-
0036212391
-
Progressive nature of aspartylglucosaminuria
-
Arvio P, Arvio M (2002) Progressive nature of aspartylglucosaminuria. Acta Paediatr 91: 255-257.
-
(2002)
Acta Paediatr
, vol.91
, pp. 255-257
-
-
Arvio, P.1
Arvio, M.2
-
5
-
-
0027253317
-
Early clinical symptoms and incidence of aspartylglucosaminuria in Finland
-
Arvio M, Autio S, Louhiala P (1993a) Early clinical symptoms and incidence of aspartylglucosaminuria in Finland. Acta Paediatr 82: 587-589.
-
(1993)
Acta Paediatr
, vol.82
, pp. 587-589
-
-
Arvio, M.1
Autio, S.2
Louhiala, P.3
-
6
-
-
0027163863
-
Epileptic seizures in aspartylglucosaminuria: A common disorder
-
Arvio M, Oksanen V, Autio S, Gaily E, Sainio K (1993b) Epileptic seizures in aspartylglucosaminuria: A common disorder. Acta Neurol Scand 87: 342-344.
-
(1993)
Acta Neurol Scand
, vol.87
, pp. 342-344
-
-
Arvio, M.1
Oksanen, V.2
Autio, S.3
Gaily, E.4
Sainio, K.5
-
7
-
-
0031828264
-
Chronic arthritis in patients with aspartylglucosaminuria
-
Arvio MA, Rapola JMH, Pelkonen PM (1998) Chronic arthritis in patients with aspartylglucosaminuria. J Rheumatol 25: 1131-1134.
-
(1998)
J Rheumatol
, vol.25
, pp. 1131-1134
-
-
Arvio, M.A.1
Rapola, J.M.H.2
Pelkonen, P.M.3
-
8
-
-
0032947285
-
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
-
Arvio P, Arvio M, Kero M, Pirinen S, Lukinmaa P-L (1999) Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria. J Med Genet 36: 398-404.
-
(1999)
J Med Genet
, vol.36
, pp. 398-404
-
-
Arvio, P.1
Arvio, M.2
Kero, M.3
Pirinen, S.4
Lukinmaa, P.-L.5
-
9
-
-
0015485284
-
Aspartylglucosaminuria. Analysis of thirty-four patients
-
Autio S (1972) Aspartylglucosaminuria. Analysis of thirty-four patients. J Ment Def Res Mon Ser 1: 1-39.
-
(1972)
J Ment Def Res Mon Ser
, vol.1
, pp. 1-39
-
-
Autio, S.1
-
10
-
-
0030922924
-
Aspartylglucosaminuria: Radiologic course of the disease with histopathologic correlation
-
Autti T, Raininko R, Haltia M, et al (1997) Aspartylglucosaminuria: Radiologic course of the disease with histopathologic correlation. J Child Neurol 12: 369-375.
-
(1997)
J Child Neurol
, vol.12
, pp. 369-375
-
-
Autti, T.1
Raininko, R.2
Haltia, M.3
-
11
-
-
0022377875
-
Nocturnal difficulties in a population of mentally handicapped children
-
Bartlett LB, Rooney V, Spedding S (1985) Nocturnal difficulties in a population of mentally handicapped children. Br J Ment Subnorm 31: 54-59.
-
(1985)
Br J Ment Subnorm
, vol.31
, pp. 54-59
-
-
Bartlett, L.B.1
Rooney, V.2
Spedding, S.3
-
12
-
-
0031877443
-
Questionnaire survey of sleep and night time behaviour in a community-based sample of adults with intellectual disabilities
-
Brylewski JE, Wiggs LA (1998) Questionnaire survey of sleep and night time behaviour in a community-based sample of adults with intellectual disabilities. J Intellect Disabil Res 42: 154-162.
-
(1998)
J Intellect Disabil Res
, vol.42
, pp. 154-162
-
-
Brylewski, J.E.1
Wiggs, L.A.2
-
13
-
-
33748694873
-
Inattention, hyperactivity, and symptoms of sleep-disordered breathing
-
Chervin RD, Archbold KH, Dillon J, et al (2002) Inattention, hyperactivity, and symptoms of sleep-disordered breathing. Pediatrics 110: 850-852.
-
(2002)
Pediatrics
, vol.110
, pp. 850-852
-
-
Chervin, R.D.1
Archbold, K.H.2
Dillon, J.3
-
16
-
-
0346249812
-
Sleep apnea and Down's syndrome
-
Dahlqvist A, Rask E, Rosenqvist CJ, Sahlin C, Franklin KA (2003) Sleep apnea and Down's syndrome. Acta Otolaryngol 123: 1094-1097.
-
(2003)
Acta Otolaryngol
, vol.123
, pp. 1094-1097
-
-
Dahlqvist, A.1
Rask, E.2
Rosenqvist, C.J.3
Sahlin, C.4
Franklin, K.A.5
-
17
-
-
0034898948
-
A review of the nature and treatment of sleep disorders in individuals with developmental disabilities
-
Didden R, Sigafoos J (2001) A review of the nature and treatment of sleep disorders in individuals with developmental disabilities. Res Dev Disabil 22: 255-272.
-
(2001)
Res Dev Disabil
, vol.22
, pp. 255-272
-
-
Didden, R.1
Sigafoos, J.2
-
19
-
-
22544441864
-
Entrainment of the human circadian system by light
-
Duffy JF, Wright KP Jr (2005) Entrainment of the human circadian system by light. J Biol Rhythms 20: 326-338.
-
(2005)
J Biol Rhythms
, vol.20
, pp. 326-338
-
-
Duffy, J.F.1
Wright Jr., K.P.2
-
20
-
-
0035666798
-
Polysomnographic assessment of spells in sleep: Nocturnal seizures versus parasomnias
-
Dyken ME, Yamada T, Lin-Dyken DC (2001) Polysomnographic assessment of spells in sleep: Nocturnal seizures versus parasomnias. Semin Neurol 21: 377-390.
-
(2001)
Semin Neurol
, vol.21
, pp. 377-390
-
-
Dyken, M.E.1
Yamada, T.2
Lin-Dyken, D.C.3
-
21
-
-
0026073366
-
Sleep patterns and sleep problems amongst people with mental handicap
-
Espie CA, Tweedie FM (1991) Sleep patterns and sleep problems amongst people with mental handicap. J Ment Def Res 35: 25-26.
-
(1991)
J Ment Def Res
, vol.35
, pp. 25-26
-
-
Espie, C.A.1
Tweedie, F.M.2
-
22
-
-
28444479825
-
Sleep disturbance in San Filippo syndrome: A parental questionnaire study
-
Fraser J, Gason AA, Wraith JE, Delatycki MB (2005) Sleep disturbance in San Filippo syndrome: A parental questionnaire study. Arch Dis Child 90: 1239-1242.
-
(2005)
Arch Dis Child
, vol.90
, pp. 1239-1242
-
-
Fraser, J.1
Gason, A.A.2
Wraith, J.E.3
Delatycki, M.B.4
-
23
-
-
0027977056
-
Sleep disorder and epilepsy in children with tuberous sclerosis: A questionnaire-based study
-
Hunt A, Stores G (1994) Sleep disorder and epilepsy in children with tuberous sclerosis: A questionnaire-based study. Dev Med Child Neurol 36: 108-116.
-
(1994)
Dev Med Child Neurol
, vol.36
, pp. 108-116
-
-
Hunt, A.1
Stores, G.2
-
24
-
-
0027018402
-
Mutations causing aspartylglucosaminuria (AGU): A lysosomal accumulation disease
-
Ikonen E, Peltonen L (1992) Mutations causing aspartylglucosaminuria (AGU): A lysosomal accumulation disease. Hum Mutat 1: 361-365.
-
(1992)
Hum Mutat
, vol.1
, pp. 361-365
-
-
Ikonen, E.1
Peltonen, L.2
-
25
-
-
0026327411
-
Spectrum of mutations in aspartylglucosaminuria
-
Ikonen E, Aula P, Grön K, et al (1991) Spectrum of mutations in aspartylglucosaminuria. Proc Natl Acad Sci USA 88: 11222-11226.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 11222-11226
-
-
Ikonen, E.1
Aula, P.2
Grön, K.3
-
26
-
-
0029062246
-
Characterization of four monosialo and a novel disialo Asn N-glycosides from the urine of a patient with aspartylglucosaminuria
-
Irie F, Murakoshi H, Suzuki T, et al (1995) Characterization of four monosialo and a novel disialo Asn N-glycosides from the urine of a patient with aspartylglucosaminuria. Glycoconj J 12: 290-297.
-
(1995)
Glycoconj J
, vol.12
, pp. 290-297
-
-
Irie, F.1
Murakoshi, H.2
Suzuki, T.3
-
27
-
-
0034086642
-
Sleep alterations in juvenile neuronal ceroid-lipofuscinosis
-
Kirveskari E, Partinen M, Salmi T, et al (2000) Sleep alterations in juvenile neuronal ceroid-lipofuscinosis. Pediatr Neurol 22: 347-354.
-
(2000)
Pediatr Neurol
, vol.22
, pp. 347-354
-
-
Kirveskari, E.1
Partinen, M.2
Salmi, T.3
-
28
-
-
0035663295
-
Neurological impairments and sleep-wake behaviour among the mentally retarded
-
Lindblom N, Heiskala H, Kaski M (2001) Neurological impairments and sleep-wake behaviour among the mentally retarded. J Sleep Res 10: 309-318.
-
(2001)
J Sleep Res
, vol.10
, pp. 309-318
-
-
Lindblom, N.1
Heiskala, H.2
Kaski, M.3
-
29
-
-
11244262878
-
Daytime sleepiness and hyperactivity in children with suspected sleep-disordered breathing
-
Melendres MC, Lutz JM, Rubin ED, Marcus CL (2004) Daytime sleepiness and hyperactivity in children with suspected sleep-disordered breathing. Pediatrics 114: 768-775.
-
(2004)
Pediatrics
, vol.114
, pp. 768-775
-
-
Melendres, M.C.1
Lutz, J.M.2
Rubin, E.D.3
Marcus, C.L.4
-
31
-
-
0030832982
-
The effects on human sleep and circadian rhythms of 17 days of continuous bedrest in the absence of daylight
-
Monk TH, Buysse DJ, Billy BD, Kennedy KS, Kupfer DJ (1997) The effects on human sleep and circadian rhythms of 17 days of continuous bedrest in the absence of daylight. Sleep 20: 858-864.
-
(1997)
Sleep
, vol.20
, pp. 858-864
-
-
Monk, T.H.1
Buysse, D.J.2
Billy, B.D.3
Kennedy, K.S.4
Kupfer, D.J.5
-
32
-
-
0025790959
-
Aspartylglucosaminuria in the Finnish population: Identification of two point mutations in the heavy chain of glycoasparaginase
-
Mononen I, Heisterkamp N, Kaartinen V, et al (1991) Aspartylglucosaminuria in the Finnish population: Identification of two point mutations in the heavy chain of glycoasparaginase. Proc Natl Acad Sci USA 88: 2941-2945.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 2941-2945
-
-
Mononen, I.1
Heisterkamp, N.2
Kaartinen, V.3
-
33
-
-
0027516681
-
Characterization of three alleles causing aspartylglucosaminuria: Two from a British family and one from an American patient
-
Park H, Vettese MB, Fensom AH, Fisher KJ, Aronson NN Jr (1993) Characterization of three alleles causing aspartylglucosaminuria: Two from a British family and one from an American patient. Biochem J 290: 735-741.
-
(1993)
Biochem J
, vol.290
, pp. 735-741
-
-
Park, H.1
Vettese, M.B.2
Fensom, A.H.3
Fisher, K.J.4
Aronson Jr., N.N.5
-
34
-
-
0029962926
-
Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylclucosaminuria in a patient of Mauritian origin
-
Park H, Rossiter M, Fensom AH, Winchester B, Aronson NN Jr (1996) Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylclucosaminuria in a patient of Mauritian origin. J Inherit Metab Dis 19: 76-83.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 76-83
-
-
Park, H.1
Rossiter, M.2
Fensom, A.H.3
Winchester, B.4
Aronson Jr., N.N.5
-
35
-
-
0029038153
-
Basic Nordic Sleep Questionnaire (BNSQ): A quantified measure of subjective sleep complaints
-
Partinen M, Gislason T (1995) Basic Nordic Sleep Questionnaire (BNSQ): A quantified measure of subjective sleep complaints. J Sleep Res 4(Supplement 1):150-155.
-
(1995)
J Sleep Res
, vol.4
, Issue.SUPPL. 1
, pp. 150-155
-
-
Partinen, M.1
Gislason, T.2
-
36
-
-
0029868623
-
Sleep patterns in children and young adults with mental retardation and severe behavior disorders
-
Piazza CC, Fisher WW, Kahng SW (1996) Sleep patterns in children and young adults with mental retardation and severe behavior disorders. Dev Med Child Neurol 38: 335-344.
-
(1996)
Dev Med Child Neurol
, vol.38
, pp. 335-344
-
-
Piazza, C.C.1
Fisher, W.W.2
Kahng, S.W.3
-
37
-
-
0032721932
-
Further studies on periodic limb movement disorder and restless legs syndrome in children with attention-deficit hyperactivity disorder
-
Picchietti DL, Underwood DJ, Farris WA, et al (1999) Further studies on periodic limb movement disorder and restless legs syndrome in children with attention-deficit hyperactivity disorder. Mov Disord 14: 1000-1007.
-
(1999)
Mov Disord
, vol.14
, pp. 1000-1007
-
-
Picchietti, D.L.1
Underwood, D.J.2
Farris, W.A.3
-
38
-
-
0014401981
-
Aspartylglucosaminuria, an inborn error of metabolism associated with mental defect
-
Pollitt R, Jenner F, Merskey H (1968) Aspartylglucosaminuria, an inborn error of metabolism associated with mental defect. Lancet 3: 253-255.
-
(1968)
Lancet
, vol.3
, pp. 253-255
-
-
Pollitt, R.1
Jenner, F.2
Merskey, H.3
-
39
-
-
0026051432
-
Sleep problems in children with mental handicap
-
Quine L (1991) Sleep problems in children with mental handicap. J Ment Def Res 35: 269-290.
-
(1991)
J Ment Def Res
, vol.35
, pp. 269-290
-
-
Quine, L.1
-
40
-
-
0032748782
-
Sleep and behaviour disturbance in Prader-Willi syndrome: A questionnaire study
-
Richdale AL, Cotton S, Hibbit KJ (1999) Sleep and behaviour disturbance in Prader-Willi syndrome: A questionnaire study. J Intellect Disabil Res 43: 380-392.
-
(1999)
J Intellect Disabil Res
, vol.43
, pp. 380-392
-
-
Richdale, A.L.1
Cotton, S.2
Hibbit, K.J.3
-
41
-
-
0026947260
-
Annotation: Sleep studies in children with a mental handicap
-
Stores G (1992) Annotation: Sleep studies in children with a mental handicap. J Child Psychol Psychiatry 33: 1303-1317.
-
(1992)
J Child Psychol Psychiatry
, vol.33
, pp. 1303-1317
-
-
Stores, G.1
-
42
-
-
0142150975
-
Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C
-
Vankova J, Stepanova I, Jech R, et al (2003) Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C. Sleep 26: 427-430.
-
(2003)
Sleep
, vol.26
, pp. 427-430
-
-
Vankova, J.1
Stepanova, I.2
Jech, R.3
-
43
-
-
0030459783
-
Severe sleep disturbances and daytime challenging behavior in children with severe learning disabilities
-
Wiggs L, Stores G (1996) Severe sleep disturbances and daytime challenging behavior in children with severe learning disabilities. J Intellect Disabil Res 40: 518-528.
-
(1996)
J Intellect Disabil Res
, vol.40
, pp. 518-528
-
-
Wiggs, L.1
Stores, G.2
-
44
-
-
0346690059
-
A controlled study of sleep related disordered breathing in obese children
-
Wing YK, Hui SH, Pak WM, et al (2003) A controlled study of sleep related disordered breathing in obese children. Arch Dis Child 88: 1043-1047.
-
(2003)
Arch Dis Child
, vol.88
, pp. 1043-1047
-
-
Wing, Y.K.1
Hui, S.H.2
Pak, W.M.3
-
45
-
-
0026794672
-
Splicing defect of the glycoasparaginase gene in 2 Japanese siblings with aspartylglucosaminuria
-
Yoshida K, Yanagisawa N, Oshima A, Sakuraba H, Iida Y, Suzuki Y (1992) Splicing defect of the glycoasparaginase gene in 2 Japanese siblings with aspartylglucosaminuria. Hum Genet 90: 179-180.
-
(1992)
Hum Genet
, vol.90
, pp. 179-180
-
-
Yoshida, K.1
Yanagisawa, N.2
Oshima, A.3
Sakuraba, H.4
Iida, Y.5
Suzuki, Y.6
-
46
-
-
0030825912
-
Aspartylglucosaminuria among Palestinian Arabs
-
Zlotogora J, Ben-Neriah Z, Abu-Libdeh BY, Sury V, Zeigler M (1997) Aspartylglucosaminuria among Palestinian Arabs. J Inherit Metab Dis 20: 799-802.
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 799-802
-
-
Zlotogora, J.1
Ben-Neriah, Z.2
Abu-Libdeh, B.Y.3
Sury, V.4
Zeigler, M.5
|