-
1
-
-
0037432002
-
Practice parameter: Evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society
-
Shevell M, Ashwal S, Donley D, Flint J, Gingold M, Hirtz D, et al. Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology 2003; 60: 367-80.
-
(2003)
Neurology
, vol.60
, pp. 367-380
-
-
Shevell, M.1
Ashwal, S.2
Donley, D.3
Flint, J.4
Gingold, M.5
Hirtz, D.6
-
2
-
-
12744278217
-
Diagnostic investigations in individuals with mental retardation: A systematic literature review of their usefulness
-
Van Karnebeek CD, Jansweijer MC, Leenders AG, Offringa M, Hennekam RC. Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet 2005; 13: 6-25.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 6-25
-
-
Van Karnebeek, C.D.1
Jansweijer, M.C.2
Leenders, A.G.3
Offringa, M.4
Hennekam, R.C.5
-
3
-
-
33745314874
-
Clinical genetic evaluation of the child with mental retardation or developmental delays
-
Moeschler JB, Shevell M. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 2006; 117: 2304-16.
-
(2006)
Pediatrics
, vol.117
, pp. 2304-2316
-
-
Moeschler, J.B.1
Shevell, M.2
-
4
-
-
0000902766
-
Qualitative analysus of proteins: A partition chromatographic method using paper
-
Consden R, Gordon AH, Martin AJP. Qualitative analysus of proteins: a partition chromatographic method using paper. Biochem J 1944; 38: 224-32.
-
(1944)
Biochem J
, vol.38
, pp. 224-232
-
-
Consden, R.1
Gordon, A.H.2
Martin, A.J.P.3
-
5
-
-
21344455303
-
Etiology of mental retardation in children referred to a tertiary care center: A prospective study
-
Van Karnebeek CD, Scheper FY, Abeling NG, Alders M, Barth PG, Hoovers JM, et al. Etiology of mental retardation in children referred to a tertiary care center: a prospective study. Am J Ment Retard 2005; 110: 253-67.
-
(2005)
Am J Ment Retard
, vol.110
, pp. 253-267
-
-
Van Karnebeek, C.D.1
Scheper, F.Y.2
Abeling, N.G.3
Alders, M.4
Barth, P.G.5
Hoovers, J.M.6
-
6
-
-
0035082624
-
Metabolic studies in older mentally retarded patients: Significance of metabolic testing and correlation with the clinical pehnotype
-
Van Buggenhout GJ, Trijbels JM, Wevers R, Trommelen JC, Hamel BC, Brunner HG, et al. Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical pehnotype. Genet Couns 2001; 12: 1-21.
-
(2001)
Genet Couns
, vol.12
, pp. 1-21
-
-
Van Buggenhout, G.J.1
Trijbels, J.M.2
Wevers, R.3
Trommelen, J.C.4
Hamel, B.C.5
Brunner, H.G.6
-
7
-
-
0030756612
-
Medical evaluation of persons with mental retardation referred for psychiatric assessment
-
Ryan R, Sunada K. Medical evaluation of persons with mental retardation referred for psychiatric assessment. Gen Hosp Psychiatry 1997; 19: 274-80.
-
(1997)
Gen Hosp Psychiatry
, vol.19
, pp. 274-280
-
-
Ryan, R.1
Sunada, K.2
-
8
-
-
0034284077
-
Inborn errors of metabolism discovered in Asian department of pediatrics and mental retardation research center
-
Zhang C, Xu K, Dave UP, Wang Y, Matsumoto I. Inborn errors of metabolism discovered in Asian department of pediatrics and mental retardation research center. J Chromatography 2000; 746: 41-9.
-
(2000)
J Chromatography
, vol.746
, pp. 41-49
-
-
Zhang, C.1
Xu, K.2
Dave, U.P.3
Wang, Y.4
Matsumoto, I.5
-
9
-
-
0035525799
-
A case of late-onset carbamoyl phosphate synthetase I deficiency, presenting periodic psychotic episodes coinciding with menstrual periods
-
Wakutani Y, Nakayasu H, Takeshima T, Mori N, Kobayashi K, Endo F, et al. A case of late-onset carbamoyl phosphate synthetase I deficiency, presenting periodic psychotic episodes coinciding with menstrual periods. Rinsho Shinkeigaku 2001; 41: 780-5.
-
(2001)
Rinsho Shinkeigaku
, vol.41
, pp. 780-785
-
-
Wakutani, Y.1
Nakayasu, H.2
Takeshima, T.3
Mori, N.4
Kobayashi, K.5
Endo, F.6
-
10
-
-
0019995195
-
Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation
-
Von Wendt L, Simila S, Ruokonen A, Puukka M. Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation. Ann Clin Res 1982; 14: 145-7.
-
(1982)
Ann Clin Res
, vol.14
, pp. 145-147
-
-
Von Wendt, L.1
Simila, S.2
Ruokonen, A.3
Puukka, M.4
-
11
-
-
19444362377
-
Urea cycle defects: Management and outcome
-
Nassogne MC, Heron B, Touati G, Rabier D, Saudubray JM. Urea cycle defects: management and outcome. J Inherit Metab Dis 2005; 28: 407-14.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 407-414
-
-
Nassogne, M.C.1
Heron, B.2
Touati, G.3
Rabier, D.4
Saudubray, J.M.5
-
12
-
-
1642547106
-
Cognitive outcome in urea cycle disorders
-
Gropman AL, Batshaw ML. Cognitive outcome in urea cycle disorders. Mol Genet Metab 2004; 81 (Suppl 1): S58-62.
-
(2004)
Mol Genet Metab
, vol.81
, Issue.SUPPL. 1
-
-
Gropman, A.L.1
Batshaw, M.L.2
-
13
-
-
0342313714
-
Hyperammonemia impairs NMDA receptor-dependent long-term potentiation in the CA1 of rat hippocampus in vitro
-
Muñoz MD, Monfort P, Gaztelu JM, Felipo V. Hyperammonemia impairs NMDA receptor-dependent long-term potentiation in the CA1 of rat hippocampus in vitro. Neurochem Res 2000; 25: 437-41.
-
(2000)
Neurochem Res
, vol.25
, pp. 437-441
-
-
Muñoz, M.D.1
Monfort, P.2
Gaztelu, J.M.3
Felipo, V.4
-
14
-
-
0034987448
-
X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency síndrome
-
Salomons GS, Van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, et al. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency síndrome. Am J Hum Genet 2001; 68: 1497-500.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1497-1500
-
-
Salomons, G.S.1
Van Dooren, S.J.2
Verhoeven, N.M.3
Cecil, K.M.4
Ball, W.S.5
Degrauw, T.J.6
-
15
-
-
3042544793
-
High prevalence of SLC6A8 deficiency in X-linked mental retardation
-
Rosenberg EH, Almeida LS, Kleefstra T, DeGrauw RS, Yntema HG, Bahi N, et al. High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet 2004; 75: 97-105.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 97-105
-
-
Rosenberg, E.H.1
Almeida, L.S.2
Kleefstra, T.3
DeGrauw, R.S.4
Yntema, H.G.5
Bahi, N.6
-
16
-
-
0038042466
-
X-linked creatine transporter defect: An overview
-
Salomons GS, Van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, et al. X-linked creatine transporter defect: an overview. J Inherit Metab Dis 2003; 26: 309-18.
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 309-318
-
-
Salomons, G.S.1
Van Dooren, S.J.2
Verhoeven, N.M.3
Marsden, D.4
Schwartz, C.5
Cecil, K.M.6
-
17
-
-
33645686423
-
X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism
-
Poo-Argüelles P, Arias A, Vilaseca MA, Ribes A, Artuch R, Sans-Fitó A, et al. X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism. J Inherit Metab Dis 2006; 29: 220-3.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 220-223
-
-
Poo-Argüelles, P.1
Arias, A.2
Vilaseca, M.A.3
Ribes, A.4
Artuch, R.5
Sans-Fitó, A.6
-
18
-
-
25644446103
-
Laboratory diagnosis of defects of creatine biosynthesis and transport
-
Verhoeven NM, Salomons GS, Jakobs C. Laboratory diagnosis of defects of creatine biosynthesis and transport. Clin Chim Acta 2005; 361: 1-9.
-
(2005)
Clin Chim Acta
, vol.361
, pp. 1-9
-
-
Verhoeven, N.M.1
Salomons, G.S.2
Jakobs, C.3
-
19
-
-
4444323611
-
Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria)
-
Gordon N. Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria). Eur J Pediatr Neurol 2004; 8: 261-5.
-
(2004)
Eur J Pediatr Neurol
, vol.8
, pp. 261-265
-
-
Gordon, N.1
-
21
-
-
0142072084
-
Significant behavioural disturbance in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria)
-
Gibson KM, Pearl PL. Significant behavioural disturbance in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biol Psychiatry 2003; 54: 763-8.
-
(2003)
Biol Psychiatry
, vol.54
, pp. 763-768
-
-
Gibson, K.M.1
Pearl, P.L.2
-
22
-
-
12944257303
-
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene
-
Gabrielli O, Coppqa GV, Bruni S, Villani GR, Pontarelli G, DiNatale P. An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene. Am J Med Genet 2005; 133: 85-9.
-
(2005)
Am J Med Genet
, vol.133
, pp. 85-89
-
-
Gabrielli, O.1
Coppqa, G.V.2
Bruni, S.3
Villani, G.R.4
Pontarelli, G.5
DiNatale, P.6
-
23
-
-
0032719681
-
Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome)
-
Barone R, Nigro F, Triulzi F, Musumeci S, Fiumara A, Pavone L. Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome). Neuropediatrics 1999; 30: 270-4.
-
(1999)
Neuropediatrics
, vol.30
, pp. 270-274
-
-
Barone, R.1
Nigro, F.2
Triulzi, F.3
Musumeci, S.4
Fiumara, A.5
Pavone, L.6
-
24
-
-
11144325072
-
Allogenic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases
-
Krivit W. Allogenic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases. Springer Semin Immunopathol 2004; 26: 119-32.
-
(2004)
Springer Semin Immunopathol
, vol.26
, pp. 119-132
-
-
Krivit, W.1
-
25
-
-
0032962263
-
Adenylosuccinase deficiency: Possibly underdiagnosed encephalopathy with variable clinical features
-
Köhler M, Assmann B, Bräutigam C, Storm W, Marie S. Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features. Eur J Pediatr Neurol 1999; 3: 3-6.
-
(1999)
Eur J Pediatr Neurol
, vol.3
, pp. 3-6
-
-
Köhler, M.1
Assmann, B.2
Bräutigam, C.3
Storm, W.4
Marie, S.5
-
26
-
-
0030969652
-
Inborn errors of the purine nucleotide cycle: Adenylosuccinase deficiency
-
Van den Berghe G, Vincent MF, Jaeken J. Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency. J Inherit Metab Dis 1997; 20: 193-202.
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 193-202
-
-
Van den Berghe, G.1
Vincent, M.F.2
Jaeken, J.3
-
27
-
-
0031888699
-
Adenylosuccinase deficiency with neonatal onset, severe epileptic seizures and sudden death
-
Van den Berghe F, Bosschart AN, Hageman G, Duran M, Poll-The BT. Adenylosuccinase deficiency with neonatal onset, severe epileptic seizures and sudden death. Neuropediatrics 1998; 29: 51-3.
-
(1998)
Neuropediatrics
, vol.29
, pp. 51-53
-
-
Van den Berghe, F.1
Bosschart, A.N.2
Hageman, G.3
Duran, M.4
Poll-The, B.T.5
-
28
-
-
18444377556
-
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
-
Holder-Espinasse M, Marie S, Bourrouillou G, Ceballos-Picot I, Nassogne MC, Faivre L, et al. Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency? J Med Genet 2002; 39: 440-2.
-
(2002)
J Med Genet
, vol.39
, pp. 440-442
-
-
Holder-Espinasse, M.1
Marie, S.2
Bourrouillou, G.3
Ceballos-Picot, I.4
Nassogne, M.C.5
Faivre, L.6
-
29
-
-
0033794299
-
Adenylosuccinate deficiency and unusual cause of early-onset epilepsy associated with acquired microcephaly
-
Nassogne MC, Henrot B, Aubert G, Bonnier C, Marie S. Adenylosuccinate deficiency and unusual cause of early-onset epilepsy associated with acquired microcephaly. Brain Dev 2000; 22: 383-6.
-
(2000)
Brain Dev
, vol.22
, pp. 383-386
-
-
Nassogne, M.C.1
Henrot, B.2
Aubert, G.3
Bonnier, C.4
Marie, S.5
-
30
-
-
0035714276
-
A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations
-
Assman B, Hacker R, Peters V, Schaefer JR, Arndt T, Mayatepek E, et al. A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations. Neuropediatrics 2001; 32: 313-8.
-
(2001)
Neuropediatrics
, vol.32
, pp. 313-318
-
-
Assman, B.1
Hacker, R.2
Peters, V.3
Schaefer, J.R.4
Arndt, T.5
Mayatepek, E.6
-
31
-
-
29244490349
-
Identification of disease markers in human cerebrospinal fluid using lipidomic and proteomic methods
-
Fonteh A, Harrington R, Humer A, Biringer R, Riggins J, Harrington M. Identification of disease markers in human cerebrospinal fluid using lipidomic and proteomic methods. Dis Markers 2006; 22: 39-46.
-
(2006)
Dis Markers
, vol.22
, pp. 39-46
-
-
Fonteh, A.1
Harrington, R.2
Humer, A.3
Biringer, R.4
Riggins, J.5
Harrington, M.6
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