-
1
-
-
31644446680
-
Cumulative incidence rates of the mucopolysaccharidoses in Germany
-
Baehner F, Schmiedeskamp C, Krummenauer F et al (2005) Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 28:1011–1017
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 1011-1017
-
-
Baehner, F.1
Schmiedeskamp, C.2
Krummenauer, F.3
-
3
-
-
33747160480
-
Long term outcomes of adaptive functions for children with MPS I
-
Bjoraker K, Delaney K, Peters C et al (2006) Long term outcomes of adaptive functions for children with MPS I. J Beh Dev Peds 27:290–296
-
(2006)
J Beh Dev Peds
, vol.27
, pp. 290-296
-
-
Bjoraker, K.1
Delaney, K.2
Peters, C.3
-
4
-
-
84908219488
-
Statistical methods for assessing agreement between two methods of clinical measurement
-
Bland JM, Altman DG (1986) Statistical methods for assessing agreement between two methods of clinical measurement. Lancet 327:307–310
-
(1986)
Lancet
, vol.327
, pp. 307-310
-
-
Bland, J.M.1
Altman, D.G.2
-
5
-
-
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
-
6
-
-
85068885887
-
Motor function decline and motor apraxia in Sanfilippo syndrome
-
Delaney K, Nestrasil I, Yund B et al (2013) Motor function decline and motor apraxia in Sanfilippo syndrome. Mol Genet Metab 108:S34
-
(2013)
Mol Genet Metab
, vol.108
, pp. S34
-
-
Delaney, K.1
Nestrasil, I.2
Yund, B.3
-
8
-
-
0345268640
-
Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): A survey of managing clinicians
-
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
-
(2002)
Clin Genet
, vol.62
, pp. 418-421
-
-
Fraser, J.1
Wraith, J.E.2
Delatycki, M.B.3
-
9
-
-
78650661227
-
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
-
Heron B, Mikaeloff Y, Froissart R, 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.155A
, pp. 58-68
-
-
Heron, B.1
Mikaeloff, Y.2
Froissart, R.3
-
10
-
-
84880201188
-
Sanfilippo syndrome: Clinical genetic diagnosis and therapies
-
Barranger J, Ch. 26. Springer, New York
-
Hopwood J (2007) Sanfilippo syndrome: clinical genetic diagnosis and therapies. In: Barranger J (ed) Lysosomal storage disorders, Ch. 26. Springer, New York, pp 415–432
-
(2007)
Lysosomal Storage Disorders
, pp. 415-432
-
-
Hopwood, J.1
-
13
-
-
85055276693
-
Assessing the use of age-equivalent scores in clinical management
-
Lawrence CW (1992) Assessing the use of age-equivalent scores in clinical management. Lang Speech Hear Serv Sch 23(1):6–8
-
(1992)
Lang Speech Hear Serv Sch
, vol.23
, Issue.1
, pp. 6-8
-
-
Lawrence, C.W.1
-
14
-
-
85055406435
-
Limitations of age-equivalent scores in reporting the results of norm-referenced tests
-
Maloney ES, Larrivee LS (2007) Limitations of age-equivalent scores in reporting the results of norm-referenced tests. Contemporary Issues Commun Sci Disorder 34:86–93
-
(2007)
Contemporary Issues Commun Sci Disorder
, vol.34
, pp. 86-93
-
-
Maloney, E.S.1
Larrivee, L.S.2
-
15
-
-
41049098690
-
Methods for assessing neuro-development in lysosomal storage diseases and related disorders: A multidisciplinary perspective
-
Martin HR, Poe MD, Reinhartsen D, Pretzel RE, Roush J, Rosenberg A, Dusing SC, Escolar ML (2008) Methods for assessing neuro-development in lysosomal storage diseases and related disorders: a multidisciplinary perspective. Acta Pediat 97:69–75
-
(2008)
Acta Pediat
, vol.97
, pp. 69-75
-
-
Martin, H.R.1
Poe, M.D.2
Reinhartsen, D.3
Pretzel, R.E.4
Roush, J.5
Rosenberg, A.6
Dusing, S.C.7
Escolar, M.L.8
-
17
-
-
36048940302
-
Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A)
-
Meyer A, Kossow K, Gal A et al (2007) Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics 120:e1255–e1261
-
(2007)
Pediatrics
, vol.120
, pp. e1255-e1261
-
-
Meyer, A.1
Kossow, K.2
Gal, A.3
-
20
-
-
9344245169
-
Outcome of unrelated donor bone marrow transplantation in forty children with Hurler syndrome
-
Peters C, Balthazor M, Shapiro E et al (1996) Outcome of unrelated donor bone marrow transplantation in forty children with Hurler syndrome. Blood 87:4894–4902
-
(1996)
Blood
, vol.87
, pp. 4894-4902
-
-
Peters, C.1
Balthazor, M.2
Shapiro, E.3
-
21
-
-
0032055564
-
Hurler Syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children
-
Peters C, Shapiro E, Anderson J et al (1998) Hurler Syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. Blood 91:2601–2608
-
(1998)
Blood
, vol.91
, pp. 2601-2608
-
-
Peters, C.1
Shapiro, E.2
Anderson, J.3
-
22
-
-
0032780351
-
The frequency of lysosomal storage diseases in The Netherlands
-
Poorthuis BJ, Wevers RA, Kleijer WJ et al (1999) The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105:151–156
-
(1999)
Hum Genet
, vol.105
, pp. 151-156
-
-
Poorthuis, B.J.1
Wevers, R.A.2
Kleijer, W.J.3
-
23
-
-
0028491299
-
Comparison of Vineland adaptive behavior scales-survey form age equivalent and standard score with the Bayley Mental Development Index
-
Raggio DJ, Massingale TW, Bass JD (1994) Comparison of Vineland adaptive behavior scales-survey form age equivalent and standard score with the Bayley Mental Development Index. Percept Mot Skills 79:203–206
-
(1994)
Percept Mot Skills
, vol.79
, pp. 203-206
-
-
Raggio, D.J.1
Massingale, T.W.2
Bass, J.D.3
-
26
-
-
33747166925
-
Metabolic (1999) and neurodegenerative disorders of childhood
-
G Taylor, D Ris, K Yeates, Guil-ford Press, New York
-
Shapiro E, Balthazor M. Metabolic (1999) and neurodegenerative disorders of childhood. In: G Taylor, D Ris, K Yeates (eds) Pediatric neuropsychology: research, theory and practice. Guil-ford Press, New York. pp 171–205
-
Pediatric Neuropsychology: Research, Theory and Practice
, pp. 171-205
-
-
Shapiro, E.1
Balthazor, M.2
-
27
-
-
0006247743
-
Childhood dementia: Neuropsychological assessment and treatment of degenerative childhood diseases
-
Tramontana MG, Hooper SR, Ch. 4. Springer, New York
-
Shapiro E, Klein K (1993) Childhood dementia: neuropsychological assessment and treatment of degenerative childhood diseases. In: Tramontana MG, Hooper SR (eds) Advances in child neuropsychology, Volume III. Ch. 4. Springer, New York, pp 119–171
-
(1993)
Advances in Child Neuropsychology
, vol.III
, pp. 119-171
-
-
Shapiro, E.1
Klein, K.2
-
28
-
-
0029146242
-
Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation
-
Shapiro EG, Lockman LA, Balthazor M, Krivit W (1995) Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J Inherit Metab Dis 18:413–429
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 413-429
-
-
Shapiro, E.G.1
Lockman, L.A.2
Balthazor, M.3
Krivit, W.4
-
31
-
-
2342535103
-
Cord blood transplants from unrelated donors in patients with Hurler's syndrome
-
Staba SL, Escolar ML, Poe M et al (2004) Cord blood transplants from unrelated donors in patients with Hurler's syndrome. NEJM 350:1060–1969
-
(2004)
NEJM
, vol.350
, pp. 1060-1969
-
-
Staba, S.L.1
Escolar, M.L.2
Poe, M.3
-
32
-
-
79959236951
-
Cognitive development in patients with mucopolysaccharidosis type III (Sanfilippo syndrome)
-
Valstar MJ, Marchal JP, Grootenhuis M et al (2011) Cognitive development in patients with mucopolysaccharidosis type III (Sanfilippo syndrome). Orphanet J Rare Dis 6:43
-
(2011)
Orphanet J Rare Dis
, vol.6
, pp. 43
-
-
Valstar, M.J.1
Marchal, J.P.2
Grootenhuis, M.3
-
33
-
-
0023114380
-
Social deficits in autism: An operational approach using the Vineland Adaptive Behavior Scales
-
Volkmar FR, Sparrow SS, Goudreau D, Cicchetti DV, Paul R, Cohen DJ (1987) Social deficits in autism: an operational approach using the Vineland Adaptive Behavior Scales. J Amer Acad Child Psychiat 26:156–165
-
(1987)
J Amer Acad Child Psychiat
, vol.26
, pp. 156-165
-
-
Volkmar, F.R.1
Sparrow, S.S.2
Goudreau, D.3
Cicchetti, D.V.4
Paul, R.5
Cohen, D.J.6
-
35
-
-
34447121276
-
Enzyme replacement therapy for mucopolysaccharidosis I patients less than 5 years old: Results of a multinational study of recombinant human alpha-L-iduonidase (laronidase)
-
Wraith JE, Beck M, Lane R et al (2007) Enzyme replacement therapy for mucopolysaccharidosis I patients less than 5 years old: Results of a multinational study of recombinant human alpha-L-iduonidase (laronidase). Pediatrics 120:e37–e46
-
(2007)
Pediatrics
, vol.120
, pp. e37-e46
-
-
Wraith, J.E.1
Beck, M.2
Lane, R.3
-
36
-
-
79955959509
-
Metabolic neurodegenerative diseases across the lifespan
-
Donders J, Hunter S, Cambridge University Press, Cambridge
-
Ziegler R, Shapiro E (2010) Metabolic neurodegenerative diseases across the lifespan. In: Donders J, Hunter S (eds) Principles and practice of lifespan developmental neuropsychology, ch. 15. Cambridge University Press, Cambridge, pp 427–448
-
(2010)
Principles and Practice of Lifespan Developmental Neuropsychology, Ch
, vol.15
, pp. 427-448
-
-
Ziegler, R.1
Shapiro, E.2
|