-
1
-
-
0000869162
-
The mucopolysaccharidoses
-
C.R. Scriver A.L. Beaudet W.S. Sly D. Valle McGraw-Hill Medical Publishing Division New York
-
Neufeld, E.F., Muenzer, J., The mucopolysaccharidoses. Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., (eds.) The Metabolic and Molecular Bases of Inherited Disease, 2001, McGraw-Hill Medical Publishing Division, New York, 3421–3452.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
2
-
-
84855577104
-
Overview of the mucopolysaccharidoses
-
Muenzer, J., Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 50:Suppl. 5 (2011), v4–v12.
-
(2011)
Rheumatology (Oxford)
, vol.50
, pp. v4-v12
-
-
Muenzer, J.1
-
3
-
-
0029023563
-
Behaviour in mucopolysaccharide disorders
-
Bax, M.C.O., Colville, G.A., Behaviour in mucopolysaccharide disorders. Arch. Dis. Child. 73 (1995), 77–81.
-
(1995)
Arch. Dis. Child.
, vol.73
, pp. 77-81
-
-
Bax, M.C.O.1
Colville, G.A.2
-
4
-
-
77958481823
-
Why are behaviors of children suffering from various neuronopathic types of mucopolysaccharidoses different?
-
Węgrzyn, G., Jakóbkiewicz-Banecka, J., Narajczyk, M., Wiśniewski, A., Piotrowska, E., Gabig-Cimińska, M., Kloska, A., Słomińska-Wojewódzka, M., Korzon-Burakowska, A., Węgrzyn, A., Why are behaviors of children suffering from various neuronopathic types of mucopolysaccharidoses different?. Med. Hypotheses 75 (2010), 605–609.
-
(2010)
Med. Hypotheses
, vol.75
, pp. 605-609
-
-
Węgrzyn, G.1
Jakóbkiewicz-Banecka, J.2
Narajczyk, M.3
Wiśniewski, A.4
Piotrowska, E.5
Gabig-Cimińska, M.6
Kloska, A.7
Słomińska-Wojewódzka, M.8
Korzon-Burakowska, A.9
Węgrzyn, A.10
-
5
-
-
0029146242
-
Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation
-
Shapiro, E.G., Lockman, L.A., Balthazor, M., Krivit, W., Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J. Inherit. Metab. Dis. 18 (1995), 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
-
6
-
-
84904209461
-
Natural history of Sanfilippo syndrome type A
-
Buhrman, D., Thakkar, K., Poe, M., Escolar, M.L., Natural history of Sanfilippo syndrome type A. J. Inherit. Metab. Dis. 37 (2014), 431–437.
-
(2014)
J. Inherit. Metab. Dis.
, vol.37
, pp. 431-437
-
-
Buhrman, D.1
Thakkar, K.2
Poe, M.3
Escolar, M.L.4
-
7
-
-
78650661227
-
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
-
Héron, B., Mikaeloff, Y., Froissart, R., Caridade, G., Maire, I., Caillaud, C., Levade, T., Chabrol, B., Feillet, F., Ogier, H., Valayannopoulos, V., Michelakakis, H., Zafeiriou, D., Lavery, L., Wraith, E., Danos, O., Heard, J.M., Tardieu, M., Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am. J. Med. Genet. A 155A (2011), 58–68.
-
(2011)
Am. J. Med. Genet. A
, vol.155A
, pp. 58-68
-
-
Héron, B.1
Mikaeloff, Y.2
Froissart, R.3
Caridade, G.4
Maire, I.5
Caillaud, C.6
Levade, T.7
Chabrol, B.8
Feillet, F.9
Ogier, H.10
Valayannopoulos, V.11
Michelakakis, H.12
Zafeiriou, D.13
Lavery, L.14
Wraith, E.15
Danos, O.16
Heard, J.M.17
Tardieu, M.18
-
8
-
-
84908238501
-
Mucopolysaccharidosis III (Sanfilippo Syndrome) — disease presentation and experimental therapies
-
Gilkes, J.A., Heldermon, C.D., Mucopolysaccharidosis III (Sanfilippo Syndrome) — disease presentation and experimental therapies. Pediatr. Endocrinol. Rev. 12:Suppl. 1 (2014), 133–140.
-
(2014)
Pediatr. Endocrinol. Rev.
, vol.12
, pp. 133-140
-
-
Gilkes, J.A.1
Heldermon, C.D.2
-
9
-
-
84899098620
-
Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA
-
(e1141)
-
Rumsey, R.K., Rudser, K., Delaney, K., Potegal, M., Whitley, C.B., Shapiro, E., Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA. J. Pediatr. 164 (2014), 1147–1151 (e1141).
-
(2014)
J. Pediatr.
, vol.164
, pp. 1147-1151
-
-
Rumsey, R.K.1
Rudser, K.2
Delaney, K.3
Potegal, M.4
Whitley, C.B.5
Shapiro, E.6
-
10
-
-
84956705938
-
The neurobehavioral phenotype in mucopolysaccharidosis type IIIB: an exploratory study
-
Shapiro, E., King, K., Ahmed, A., Rudser, K., Rumsey, R., Yund, B., Delaney, K., Nestrasil, I., Whitley, C., Potegal, M., The neurobehavioral phenotype in mucopolysaccharidosis type IIIB: an exploratory study. Mol. Genet. Metab. Rep. 6 (2016), 41–47.
-
(2016)
Mol. Genet. Metab. Rep.
, vol.6
, pp. 41-47
-
-
Shapiro, E.1
King, K.2
Ahmed, A.3
Rudser, K.4
Rumsey, R.5
Yund, B.6
Delaney, K.7
Nestrasil, I.8
Whitley, C.9
Potegal, M.10
-
11
-
-
0025289344
-
Degeneration of speech, language, and hearing in a patient with mucopolysaccharidosis VII
-
Wallace, S.P., Prutting, C.A., Gerber, S.E., Degeneration of speech, language, and hearing in a patient with mucopolysaccharidosis VII. Int. J. Pediatr. Otorhinolaryngol. 19 (1990), 97–107.
-
(1990)
Int. J. Pediatr. Otorhinolaryngol.
, vol.19
, pp. 97-107
-
-
Wallace, S.P.1
Prutting, C.A.2
Gerber, S.E.3
-
12
-
-
84949266995
-
Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I, Curr Protoc
-
Johnson, B.A., Dajnoki, A., Bodamer, O.A., Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I, Curr Protoc. Hum. Genet. 84 (2015), 1–8.
-
(2015)
Hum. Genet.
, vol.84
, pp. 1-8
-
-
Johnson, B.A.1
Dajnoki, A.2
Bodamer, O.A.3
-
13
-
-
84931420298
-
The natural history of MPS I: global perspectives from the MPS I Registry
-
Beck, M., Arn, P., Giugliani, R., Muenzer, J., Okuyama, T., Taylor, J., Fallet, S., The natural history of MPS I: global perspectives from the MPS I Registry. Genet. Med. 16 (2014), 759–765.
-
(2014)
Genet. Med.
, vol.16
, pp. 759-765
-
-
Beck, M.1
Arn, P.2
Giugliani, R.3
Muenzer, J.4
Okuyama, T.5
Taylor, J.6
Fallet, S.7
-
14
-
-
0028899004
-
The presenting features of mucopolysaccharidosis type IH (Hurler syndrome)
-
Cleary, M.A., Wraith, J.E., The presenting features of mucopolysaccharidosis type IH (Hurler syndrome). Acta Paediatr. 84 (1995), 337–339.
-
(1995)
Acta Paediatr.
, vol.84
, pp. 337-339
-
-
Cleary, M.A.1
Wraith, J.E.2
-
15
-
-
84940893067
-
Neurocognition across the spectrum of mucopolysaccharidosis type I: age, severity, and treatment
-
Shapiro, E.G., Nestrasil, I., Rudser, K., Delaney, K., Kovac, V., Ahmed, A., Yund, B., Orchard, P.J., Eisengart, J., Niklason, G.R., Raiman, J., Mamak, E., Cowan, M.J., Bailey-Olson, M., Harmatz, P., Shankar, S.P., Cagle, S., Ali, N., Steiner, R.D., Wozniak, J., Lim, K.O., Whitley, C.B., Neurocognition across the spectrum of mucopolysaccharidosis type I: age, severity, and treatment. Mol. Genet. Metab. 116 (2015), 61–68.
-
(2015)
Mol. Genet. Metab.
, vol.116
, pp. 61-68
-
-
Shapiro, E.G.1
Nestrasil, I.2
Rudser, K.3
Delaney, K.4
Kovac, V.5
Ahmed, A.6
Yund, B.7
Orchard, P.J.8
Eisengart, J.9
Niklason, G.R.10
Raiman, J.11
Mamak, E.12
Cowan, M.J.13
Bailey-Olson, M.14
Harmatz, P.15
Shankar, S.P.16
Cagle, S.17
Ali, N.18
Steiner, R.D.19
Wozniak, J.20
Lim, K.O.21
Whitley, C.B.22
more..
-
16
-
-
85033789412
-
Treatment of brain disease in mucopolysaccharidoses
-
Scarpa, M., Orchard, P.J., Schulz, A., Dickson, P.I., Haskins, M.E., Escolar, M.L., Giugliani, R., Treatment of brain disease in mucopolysaccharidoses. Mol. Genet. Metab. 122 (2017), 24–34.
-
(2017)
Mol. Genet. Metab.
, vol.122
, pp. 24-34
-
-
Scarpa, M.1
Orchard, P.J.2
Schulz, A.3
Dickson, P.I.4
Haskins, M.E.5
Escolar, M.L.6
Giugliani, R.7
-
17
-
-
41849119871
-
The clinical outcome of Hurler syndrome after stem cell transplantation
-
Aldenhoven, M., Boelens, J.J., de Koning, T.J., The clinical outcome of Hurler syndrome after stem cell transplantation. Biol. Blood Marrow Transplant. 14 (2008), 485–498.
-
(2008)
Biol. Blood Marrow Transplant.
, vol.14
, pp. 485-498
-
-
Aldenhoven, M.1
Boelens, J.J.2
de Koning, T.J.3
-
18
-
-
0032055564
-
Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group
-
Peters, C., Shapiro, E.G., Anderson, J., Henslee-Downey, P.J., Klemperer, M.R., Cowan, M.J., Saunders, E.F., de Alarcon, P.A., Twist, C., Nachman, J.B., Hale, G.A., Harris, R.E., Rozans, M.K., Kurtzberg, J., Grayson, G.H., Williams, T.E., Lenarsky, C., Wagner, J.E., Krivit, W., The Storage Disease Collaborative Study Group. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood 91 (1998), 2601–2608.
-
(1998)
Blood
, vol.91
, pp. 2601-2608
-
-
Peters, C.1
Shapiro, E.G.2
Anderson, J.3
Henslee-Downey, P.J.4
Klemperer, M.R.5
Cowan, M.J.6
Saunders, E.F.7
de Alarcon, P.A.8
Twist, C.9
Nachman, J.B.10
Hale, G.A.11
Harris, R.E.12
Rozans, M.K.13
Kurtzberg, J.14
Grayson, G.H.15
Williams, T.E.16
Lenarsky, C.17
Wagner, J.E.18
Krivit, W.19
-
19
-
-
0031018301
-
Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres
-
Vellodi, A., Young, E.P., Cooper, A., Wraith, J.E., Winchester, B., Meaney, C., Ramaswami, U., Will, A., Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. Arch. Dis. Child. 76 (1997), 92–99.
-
(1997)
Arch. Dis. Child.
, vol.76
, pp. 92-99
-
-
Vellodi, A.1
Young, E.P.2
Cooper, A.3
Wraith, J.E.4
Winchester, B.5
Meaney, C.6
Ramaswami, U.7
Will, A.8
-
20
-
-
10744223978
-
Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources
-
Souillet, G., Guffon, N., Maire, I., Pujol, M., Taylor, P., Sevin, F., Bleyzac, N., Mulier, C., Durin, A., Kebaili, K., Galambrun, C., Bertrand, Y., Froissart, R., Dorche, C., Gebuhrer, L., Garin, C., Berard, J., Guibaud, P., Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant. 31 (2003), 1105–1117.
-
(2003)
Bone Marrow Transplant.
, vol.31
, pp. 1105-1117
-
-
Souillet, G.1
Guffon, N.2
Maire, I.3
Pujol, M.4
Taylor, P.5
Sevin, F.6
Bleyzac, N.7
Mulier, C.8
Durin, A.9
Kebaili, K.10
Galambrun, C.11
Bertrand, Y.12
Froissart, R.13
Dorche, C.14
Gebuhrer, L.15
Garin, C.16
Berard, J.17
Guibaud, P.18
-
21
-
-
34548229996
-
Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study
-
Lücke, T., Das, A.M., Hartmann, H., Sykora, K.W., Donnerstag, F., Schmid-Ott, G., Grigull, L., Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study. Dev. Med. Child Neurol. 49 (2007), 693–696.
-
(2007)
Dev. Med. Child Neurol.
, vol.49
, pp. 693-696
-
-
Lücke, T.1
Das, A.M.2
Hartmann, H.3
Sykora, K.W.4
Donnerstag, F.5
Schmid-Ott, G.6
Grigull, L.7
-
22
-
-
0027466761
-
Long-term outcome of Hurler syndrome following bone marrow transplantation
-
Whitley, C.B., Belani, K.G., Chang, P.N., Summers, C.G., Blazar, B.R., Tsai, M.Y., Latchaw, R.E., Ramsay, N.K.C., Kersey, J.H., Long-term outcome of Hurler syndrome following bone marrow transplantation. Am. J. Med. Genet. 46 (1993), 209–218.
-
(1993)
Am. J. Med. Genet.
, vol.46
, pp. 209-218
-
-
Whitley, C.B.1
Belani, K.G.2
Chang, P.N.3
Summers, C.G.4
Blazar, B.R.5
Tsai, M.Y.6
Latchaw, R.E.7
Ramsay, N.K.C.8
Kersey, J.H.9
-
23
-
-
84995917139
-
Long-term functional outcomes of children with Hurler syndrome treated with unrelated umbilical cord blood transplantation
-
Coletti, H.Y., Aldenhoven, M., Yelin, K., Poe, M.D., Kurtzberg, J., Escolar, M.L., Long-term functional outcomes of children with Hurler syndrome treated with unrelated umbilical cord blood transplantation. JIMD Rep. 20 (2015), 77–86.
-
(2015)
JIMD Rep.
, vol.20
, pp. 77-86
-
-
Coletti, H.Y.1
Aldenhoven, M.2
Yelin, K.3
Poe, M.D.4
Kurtzberg, J.5
Escolar, M.L.6
-
24
-
-
84926200256
-
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study
-
Aldenhoven, M., Wynn, R.F., Orchard, P.J., O'Meara, A., Veys, P., Fischer, A., Valayannopoulos, V., Neven, B., Rovelli, A., Prasad, V.K., Tolar, J., Allewelt, H., Jones, S.A., Parini, R., Renard, M., Bordon, V., Wulffraat, N.M., de Koning, T.J., Shapiro, E.G., Kurtzberg, J., Boelens, J.J., Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. Blood 125 (2015), 2164–2172.
-
(2015)
Blood
, vol.125
, pp. 2164-2172
-
-
Aldenhoven, M.1
Wynn, R.F.2
Orchard, P.J.3
O'Meara, A.4
Veys, P.5
Fischer, A.6
Valayannopoulos, V.7
Neven, B.8
Rovelli, A.9
Prasad, V.K.10
Tolar, J.11
Allewelt, H.12
Jones, S.A.13
Parini, R.14
Renard, M.15
Bordon, V.16
Wulffraat, N.M.17
de Koning, T.J.18
Shapiro, E.G.19
Kurtzberg, J.20
Boelens, J.J.21
more..
-
25
-
-
2342535103
-
Cord-blood transplants from unrelated donors in patients with Hurler's syndrome
-
Staba, S.L., Escolar, M.L., Poe, M., Kim, Y., Martin, P.L., Szabolcs, P., Allison-Thacker, J., Wood, S., Wenger, D.A., Rubinstein, P., Hopwood, J.J., Krivit, W., Kurtzberg, J., Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N. Engl. J. Med. 350 (2004), 1960–1969.
-
(2004)
N. Engl. J. Med.
, vol.350
, pp. 1960-1969
-
-
Staba, S.L.1
Escolar, M.L.2
Poe, M.3
Kim, Y.4
Martin, P.L.5
Szabolcs, P.6
Allison-Thacker, J.7
Wood, S.8
Wenger, D.A.9
Rubinstein, P.10
Hopwood, J.J.11
Krivit, W.12
Kurtzberg, J.13
-
26
-
-
84873655862
-
Brain and spinal MR imaging findings in mucopolysaccharidoses: a review
-
Zafeiriou, D.I., Batzios, S.P., Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. Am. J. Neuroradiol. 34 (2013), 5–13.
-
(2013)
Am. J. Neuroradiol.
, vol.34
, pp. 5-13
-
-
Zafeiriou, D.I.1
Batzios, S.P.2
-
27
-
-
34548203201
-
Brain MRI in mucopolysaccharidosis: effect of aging and correlation with biochemical findings
-
Vedolin, L., Schwartz, I.V.D., Komlos, M., Schuch, A., Azevedo, A.C., Vieira, T., Maeda, F.K., Marques da Silva, A.M., Giugliani, R., Brain MRI in mucopolysaccharidosis: effect of aging and correlation with biochemical findings. Neurology 69 (2007), 917–924.
-
(2007)
Neurology
, vol.69
, pp. 917-924
-
-
Vedolin, L.1
Schwartz, I.V.D.2
Komlos, M.3
Schuch, A.4
Azevedo, A.C.5
Vieira, T.6
Maeda, F.K.7
Marques da Silva, A.M.8
Giugliani, R.9
-
28
-
-
0034955983
-
Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation
-
Seto, T., Kono, K., Morimoto, K., Inoue, Y., Shintaku, H., Hattori, H., Matsuoka, O., Yamano, T., Tanaka, A., Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation. Ann. Neurol. 50 (2001), 79–92.
-
(2001)
Ann. Neurol.
, vol.50
, pp. 79-92
-
-
Seto, T.1
Kono, K.2
Morimoto, K.3
Inoue, Y.4
Shintaku, H.5
Hattori, H.6
Matsuoka, O.7
Yamano, T.8
Tanaka, A.9
-
29
-
-
4444287601
-
Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation
-
Matheus, M.G., Castillo, M., Smith, J.K., Armao, D., Towle, D., Muenzer, J., Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology 46 (2004), 666–672.
-
(2004)
Neuroradiology
, vol.46
, pp. 666-672
-
-
Matheus, M.G.1
Castillo, M.2
Smith, J.K.3
Armao, D.4
Towle, D.5
Muenzer, J.6
-
30
-
-
0028916610
-
The mucopolysaccharidoses: a clinical review and guide to management
-
Wraith, J.E., The mucopolysaccharidoses: a clinical review and guide to management. Arch. Dis. Child. 72 (1995), 263–267.
-
(1995)
Arch. Dis. Child.
, vol.72
, pp. 263-267
-
-
Wraith, J.E.1
-
31
-
-
59449100963
-
Mucopolysaccharidosis I: management and treatment guidelines
-
Muenzer, J., Wraith, J.E., Clarke, L.A., Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 123 (2009), 19–29.
-
(2009)
Pediatrics
, vol.123
, pp. 19-29
-
-
Muenzer, J.1
Wraith, J.E.2
Clarke, L.A.3
-
32
-
-
85013412149
-
Early disease progression of Hurler syndrome
-
Kiely, B.T., Kohler, J.L., Coletti, H.Y., Poe, M.D., Escolar, M.L., Early disease progression of Hurler syndrome. Orphanet. J. Rare Dis., 12, 2017, 32.
-
(2017)
Orphanet. J. Rare Dis.
, vol.12
, pp. 32
-
-
Kiely, B.T.1
Kohler, J.L.2
Coletti, H.Y.3
Poe, M.D.4
Escolar, M.L.5
-
33
-
-
33747160480
-
Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation
-
Bjoraker, K.J., Delaney, K., Peters, C., Krivit, W., Shapiro, E.G., Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation. J. Dev. Behav. Pediatr. 27 (2006), 290–296.
-
(2006)
J. Dev. Behav. Pediatr.
, vol.27
, pp. 290-296
-
-
Bjoraker, K.J.1
Delaney, K.2
Peters, C.3
Krivit, W.4
Shapiro, E.G.5
-
34
-
-
33750194666
-
Gross motor abilities in children with Hurler syndrome
-
Dusing, S.C., Thorpe, D., Rosenberg, A., Mercer, V., Escolar, M.L., Gross motor abilities in children with Hurler syndrome. Dev. Med. Child Neurol. 48 (2006), 927–930.
-
(2006)
Dev. Med. Child Neurol.
, vol.48
, pp. 927-930
-
-
Dusing, S.C.1
Thorpe, D.2
Rosenberg, A.3
Mercer, V.4
Escolar, M.L.5
-
35
-
-
85056441236
-
Natural history of Hurler syndrome
-
Kiely, B.T., Poe, M.D., Escolar, M.L., Natural history of Hurler syndrome. Mol. Genet. Metab., 117, 2016, S67.
-
(2016)
Mol. Genet. Metab.
, vol.117
, pp. S67
-
-
Kiely, B.T.1
Poe, M.D.2
Escolar, M.L.3
-
36
-
-
77953474885
-
Clinical assessment and treatment of carpal tunnel syndrome in the mucopolysaccharidoses
-
White, K., Kim, T., Neufeld, J.A., Clinical assessment and treatment of carpal tunnel syndrome in the mucopolysaccharidoses. J. Pediatr. Rehabil. Med. 3 (2010), 57–62.
-
(2010)
J. Pediatr. Rehabil. Med.
, vol.3
, pp. 57-62
-
-
White, K.1
Kim, T.2
Neufeld, J.A.3
-
37
-
-
77953467194
-
Orthopedic management of mucopolysaccharide disease
-
White, K.K., Harmatz, P., Orthopedic management of mucopolysaccharide disease. J. Pediatr. Rehabil. Med. 3 (2010), 47–56.
-
(2010)
J. Pediatr. Rehabil. Med.
, vol.3
, pp. 47-56
-
-
White, K.K.1
Harmatz, P.2
-
38
-
-
84893672647
-
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome
-
Ahmed, A., Whitley, C.B., Cooksley, R., Rudser, K., Cagle, S., Ali, N., Delaney, K., Yund, B., Shapiro, E., Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome. Mol. Genet. Metab. 111 (2014), 123–127.
-
(2014)
Mol. Genet. Metab.
, vol.111
, pp. 123-127
-
-
Ahmed, A.1
Whitley, C.B.2
Cooksley, R.3
Rudser, K.4
Cagle, S.5
Ali, N.6
Delaney, K.7
Yund, B.8
Shapiro, E.9
-
39
-
-
85056440032
-
Emotional-behavioral functioning in individuals with MPS I: a longitudinal approach
-
King, K., Shapiro, E., Rudser, K., Whitley, C.B., Emotional-behavioral functioning in individuals with MPS I: a longitudinal approach. Mol. Genet. Metab. Rep. 117 (2016), S14–124.
-
(2016)
Mol. Genet. Metab. Rep.
, vol.117
, pp. S14-124
-
-
King, K.1
Shapiro, E.2
Rudser, K.3
Whitley, C.B.4
-
40
-
-
84880224685
-
Mucopolysaccharidosis Type IIIA presents as a variant of Klüver-Bucy syndrome
-
Potegal, M., Yund, B., Rudser, K., Ahmed, A., Delaney, K., Nestrasil, I., Whitley, C.B., Shapiro, E.G., Mucopolysaccharidosis Type IIIA presents as a variant of Klüver-Bucy syndrome. J. Clin. Exp. Neuropsychol. 35 (2013), 608–616.
-
(2013)
J. Clin. Exp. Neuropsychol.
, vol.35
, pp. 608-616
-
-
Potegal, M.1
Yund, B.2
Rudser, K.3
Ahmed, A.4
Delaney, K.5
Nestrasil, I.6
Whitley, C.B.7
Shapiro, E.G.8
-
41
-
-
84866144416
-
An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell transplantation (HCT)
-
Shapiro, E., Guler, O.E., Rudser, K., Delaney, K., Bjoraker, K., Whitley, C., Tolar, J., Orchard, P., Provenzale, J., Thomas, K., An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell transplantation (HCT). Mol. Genet. Metab. 107 (2012), 116–121.
-
(2012)
Mol. Genet. Metab.
, vol.107
, pp. 116-121
-
-
Shapiro, E.1
Guler, O.E.2
Rudser, K.3
Delaney, K.4
Bjoraker, K.5
Whitley, C.6
Tolar, J.7
Orchard, P.8
Provenzale, J.9
Thomas, K.10
-
42
-
-
79955493662
-
Natural progression of neurological disease in mucopolysaccharidosis type II
-
Holt, J.B., Poe, M.D., Escolar, M.L., Natural progression of neurological disease in mucopolysaccharidosis type II. Pediatrics 127 (2011), e1258–1265.
-
(2011)
Pediatrics
, vol.127
, pp. e1258-1265
-
-
Holt, J.B.1
Poe, M.D.2
Escolar, M.L.3
-
43
-
-
38849176942
-
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)
-
Martin, R., Beck, M., Eng, C., Giugliani, R., Harmatz, P., Muñoz, V., Muenzer, J., Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 121 (2008), e377–e386.
-
(2008)
Pediatrics
, vol.121
, pp. e377-e386
-
-
Martin, R.1
Beck, M.2
Eng, C.3
Giugliani, R.4
Harmatz, P.5
Muñoz, V.6
Muenzer, J.7
-
44
-
-
39149118050
-
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
-
Wraith, J.E., Scarpa, M., Beck, M., Bodamer, O.A., De, M.L., Guffon, N., Meldgaard, L.A., Malm, G., Van der Ploeg, A.T., Zeman, J., Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur. J. Pediatr. 167 (2008), 267–277.
-
(2008)
Eur. J. Pediatr.
, vol.167
, pp. 267-277
-
-
Wraith, J.E.1
Scarpa, M.2
Beck, M.3
Bodamer, O.A.4
De, M.L.5
Guffon, N.6
Meldgaard, L.A.7
Malm, G.8
Van der Ploeg, A.T.9
Zeman, J.10
-
45
-
-
84921766436
-
Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II
-
Yund, B., Rudser, K., Ahmed, A., Kovac, V., Nestrasil, I., Raiman, J., Mamak, E., Harmatz, P., Steiner, R., Lau, H., Vekaria, P., Wozniak, J.R., Lim, K.O., Delaney, K., Whitley, C., Shapiro, E.G., Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II. Mol. Genet. Metab. 114 (2015), 170–177.
-
(2015)
Mol. Genet. Metab.
, vol.114
, pp. 170-177
-
-
Yund, B.1
Rudser, K.2
Ahmed, A.3
Kovac, V.4
Nestrasil, I.5
Raiman, J.6
Mamak, E.7
Harmatz, P.8
Steiner, R.9
Lau, H.10
Vekaria, P.11
Wozniak, J.R.12
Lim, K.O.13
Delaney, K.14
Whitley, C.15
Shapiro, E.G.16
-
46
-
-
84962385143
-
A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II
-
Shapiro, E.G., Rudser, K., Ahmed, A., Steiner, R.D., Delaney, K.A., Yund, B., King, K., Kunin-Batson, A., Eisengart, J., Whitley, C.B., A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II. Mol. Genet. Metab. Rep. 7 (2016), 32–39.
-
(2016)
Mol. Genet. Metab. Rep.
, vol.7
, pp. 32-39
-
-
Shapiro, E.G.1
Rudser, K.2
Ahmed, A.3
Steiner, R.D.4
Delaney, K.A.5
Yund, B.6
King, K.7
Kunin-Batson, A.8
Eisengart, J.9
Whitley, C.B.10
-
47
-
-
52049124506
-
Initial report from the Hunter Outcome Survey
-
Wraith, J.E., Beck, M., Giugliani, R., Clarke, J., Martin, R., Muenzer, J., Initial report from the Hunter Outcome Survey. Genet. Med. 10 (2008), 508–516.
-
(2008)
Genet. Med.
, vol.10
, pp. 508-516
-
-
Wraith, J.E.1
Beck, M.2
Giugliani, R.3
Clarke, J.4
Martin, R.5
Muenzer, J.6
-
48
-
-
85056439200
-
Neurologic involvement in Hunter syndrome: data from the Hunter Outcome Survey (HOS)
-
Escolar, M., Jardim, L., Muenzer, J., Morin, I., Scarpa, M., Neurologic involvement in Hunter syndrome: data from the Hunter Outcome Survey (HOS). Mol. Genet. Metab., 108, 2013, S38.
-
(2013)
Mol. Genet. Metab.
, vol.108
, pp. S38
-
-
Escolar, M.1
Jardim, L.2
Muenzer, J.3
Morin, I.4
Scarpa, M.5
-
49
-
-
79960467875
-
Early clinical markers of central nervous system involvement in mucopolysaccharidosis type II
-
Holt, J., Poe, M.D., Escolar, M.L., Early clinical markers of central nervous system involvement in mucopolysaccharidosis type II. J. Pediatr. 159 (2011), 320–326.
-
(2011)
J. Pediatr.
, vol.159
, pp. 320-326
-
-
Holt, J.1
Poe, M.D.2
Escolar, M.L.3
-
50
-
-
0020613358
-
The natural history of the severe form of Hunter's syndrome: a study based on 52 cases
-
Young, I.D., Harper, P.S., The natural history of the severe form of Hunter's syndrome: a study based on 52 cases. Dev. Med. Child Neurol. 25 (1983), 481–489.
-
(1983)
Dev. Med. Child Neurol.
, vol.25
, pp. 481-489
-
-
Young, I.D.1
Harper, P.S.2
-
51
-
-
33947590635
-
A clinical study of 77 patients with mucopolysaccharidosis type II
-
Schwartz, I.V.D., Ribeiro, M.G., Mota, J.G., Toralles, M.B.P., Correia, P., Horovitz, D., Santos, E.S., Monlleo, I.L., Fett-Conte, A.C., Sobrinho, R.P.O., Norato, D.Y.J., Paula, A.C., Kim, C.A., Duarte, A.R., Boy, R., Valadares, E., De Michelena, M., Mabe, P., Martinhago, C.D., Pina-Neto, J.M., Kok, F., Leistner-Segal, S., Burin, M.G., Giugliani, R., A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr. Suppl. 96 (2007), 63–70.
-
(2007)
Acta Paediatr. Suppl.
, vol.96
, pp. 63-70
-
-
Schwartz, I.V.D.1
Ribeiro, M.G.2
Mota, J.G.3
Toralles, M.B.P.4
Correia, P.5
Horovitz, D.6
Santos, E.S.7
Monlleo, I.L.8
Fett-Conte, A.C.9
Sobrinho, R.P.O.10
Norato, D.Y.J.11
Paula, A.C.12
Kim, C.A.13
Duarte, A.R.14
Boy, R.15
Valadares, E.16
De Michelena, M.17
Mabe, P.18
Martinhago, C.D.19
Pina-Neto, J.M.20
Kok, F.21
Leistner-Segal, S.22
Burin, M.G.23
Giugliani, R.24
more..
-
52
-
-
42049113021
-
Otologic manifestations of Hunter syndrome and their relationship with speech development
-
Cho, Y.S., Kim, J.H., Kim, T.W., Chung, S.C., Chang, S.A., Jin, D.K., Otologic manifestations of Hunter syndrome and their relationship with speech development. Audiol. Neurootol. 13 (2008), 206–212.
-
(2008)
Audiol. Neurootol.
, vol.13
, pp. 206-212
-
-
Cho, Y.S.1
Kim, J.H.2
Kim, T.W.3
Chung, S.C.4
Chang, S.A.5
Jin, D.K.6
-
53
-
-
84929939693
-
Nocturnal frontal lobe epilepsy in mucopolysaccharidosis
-
Bonanni, P., Volzone, A., Randazzo, G., Antoniazzi, L., Rampazzo, A., Scarpa, M., Nobili, L., Nocturnal frontal lobe epilepsy in mucopolysaccharidosis. Brain Dev. 36 (2014), 826–829.
-
(2014)
Brain Dev.
, vol.36
, pp. 826-829
-
-
Bonanni, P.1
Volzone, A.2
Randazzo, G.3
Antoniazzi, L.4
Rampazzo, A.5
Scarpa, M.6
Nobili, L.7
-
54
-
-
78650905961
-
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations
-
Valstar, M.J., Neijs, S., Bruggenwirth, H.T., Olmer, R., Ruijter, G.J.G., Wevers, R.A., van Diggelen, O.P., Poorthuis, B.J., Halley, D.J., Wijburg, F.A., Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Ann. Neurol. 68 (2010), 876–887.
-
(2010)
Ann. Neurol.
, vol.68
, pp. 876-887
-
-
Valstar, M.J.1
Neijs, S.2
Bruggenwirth, H.T.3
Olmer, R.4
Ruijter, G.J.G.5
Wevers, R.A.6
van Diggelen, O.P.7
Poorthuis, B.J.8
Halley, D.J.9
Wijburg, F.A.10
-
55
-
-
79952557240
-
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype
-
Valstar, M.J., Bruggenwirth, H.T., Olmer, R., Wevers, R.A., Verheijen, F.W., Poorthuis, B.J., Halley, D.J., Wijburg, F.A., Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J. Inherit. Metab. Dis. 33 (2010), 759–767.
-
(2010)
J. Inherit. Metab. Dis.
, vol.33
, pp. 759-767
-
-
Valstar, M.J.1
Bruggenwirth, H.T.2
Olmer, R.3
Wevers, R.A.4
Verheijen, F.W.5
Poorthuis, B.J.6
Halley, D.J.7
Wijburg, F.A.8
-
56
-
-
38049115253
-
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands
-
Ruijter, G.J.G., Valstar, M.J., van de Kamp, J.M., van der Helm, R.M., Durand, S., van Diggelen, O.P., Wevers, R.A., Poorthuis, B.J., Pshezhetsky, A.V., Wijburg, F.A., Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol. Genet. Metab. 93 (2008), 104–111.
-
(2008)
Mol. Genet. Metab.
, vol.93
, pp. 104-111
-
-
Ruijter, G.J.G.1
Valstar, M.J.2
van de Kamp, J.M.3
van der Helm, R.M.4
Durand, S.5
van Diggelen, O.P.6
Wevers, R.A.7
Poorthuis, B.J.8
Pshezhetsky, A.V.9
Wijburg, F.A.10
-
57
-
-
84956629523
-
A prospective natural history study of mucopolysaccharidosis type IIIA
-
Shapiro, E.G., Nestrasil, I., Delaney, K.A., Rudser, K., Kovac, V., Nair, N., Richard, C.W. III, Haslett, P., Whitley, C.B., A prospective natural history study of mucopolysaccharidosis type IIIA. J. Pediatr. 170 (2016), 278–287.
-
(2016)
J. Pediatr.
, vol.170
, pp. 278-287
-
-
Shapiro, E.G.1
Nestrasil, I.2
Delaney, K.A.3
Rudser, K.4
Kovac, V.5
Nair, N.6
Richard, C.W.7
Haslett, P.8
Whitley, C.B.9
-
58
-
-
0027496536
-
The mucopolysaccharidoses: characterization by cranial MR imaging
-
Lee, C., Dineen, T.E., Brack, M., Kirsch, J.E., Runge, V.M., The mucopolysaccharidoses: characterization by cranial MR imaging. Am. J. Neuroradiol. 14 (1993), 1285–1292.
-
(1993)
Am. J. Neuroradiol.
, vol.14
, pp. 1285-1292
-
-
Lee, C.1
Dineen, T.E.2
Brack, M.3
Kirsch, J.E.4
Runge, V.M.5
-
59
-
-
79959236951
-
Cognitive development in patients with mucopolysaccharidosis type III (Sanfilippo syndrome)
-
Valstar, M.J., Marchal, J.P., Grootenhuis, M., Colland, V., Wijburg, F.A., Cognitive development in patients with mucopolysaccharidosis type III (Sanfilippo syndrome). Orphanet. J. Rare Dis., 6, 2011, 43.
-
(2011)
Orphanet. J. Rare Dis.
, vol.6
, pp. 43
-
-
Valstar, M.J.1
Marchal, J.P.2
Grootenhuis, M.3
Colland, V.4
Wijburg, F.A.5
-
60
-
-
34548087323
-
Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?
-
Moog, U., van Mierlo, I., van Schrojenstein Lantman-de Valk, H.M.J., Spaapen, L., Maaskant, M.A., Curfs, L.M.G., Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?. Am. J. Med. Genet. C Semin. Med. Genet. 145C (2007), 293–301.
-
(2007)
Am. J. Med. Genet. C Semin. Med. Genet.
, vol.145C
, pp. 293-301
-
-
Moog, U.1
van Mierlo, I.2
van Schrojenstein Lantman-de Valk, H.M.J.3
Spaapen, L.4
Maaskant, M.A.5
Curfs, L.M.G.6
-
61
-
-
28444479825
-
Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study
-
Fraser, J., Gason, A.A., Wraith, J.E., Delatycki, M.B., Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study. Arch. Dis. Child. 90 (2005), 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
-
62
-
-
71949110878
-
Multidisciplinary management of Hunter syndrome
-
Muenzer, J., Beck, M., Eng, C.M., Escolar, M.L., Giugliani, R., Guffon, N.H., Harmatz, P., Kamin, W., Kampmann, C., Koseoglu, S.T., Link, B., Martin, R.A., Molter, D.W., Muñoz Rojas, M.V., Ogilvie, J.W., Parini, R., Ramaswami, U., Scarpa, M., Schwartz, I.V., Wood, R.E., Wraith, E., Multidisciplinary management of Hunter syndrome. Pediatrics 124 (2009), e1228–e1239.
-
(2009)
Pediatrics
, vol.124
, pp. e1228-e1239
-
-
Muenzer, J.1
Beck, M.2
Eng, C.M.3
Escolar, M.L.4
Giugliani, R.5
Guffon, N.H.6
Harmatz, P.7
Kamin, W.8
Kampmann, C.9
Koseoglu, S.T.10
Link, B.11
Martin, R.A.12
Molter, D.W.13
Muñoz Rojas, M.V.14
Ogilvie, J.W.15
Parini, R.16
Ramaswami, U.17
Scarpa, M.18
Schwartz, I.V.19
Wood, R.E.20
Wraith, E.21
more..
-
63
-
-
0019778834
-
Psychosocial problems in Hunter's syndrome
-
Young, I.D., Harper, P.S., Psychosocial problems in Hunter's syndrome. Child Care Health Dev. 7 (1981), 201–209.
-
(1981)
Child Care Health Dev.
, vol.7
, pp. 201-209
-
-
Young, I.D.1
Harper, P.S.2
-
64
-
-
84926418145
-
Quantifying behaviors of children with Sanfilippo syndrome: the Sanfilippo behavior rating scale
-
Shapiro, E.G., Nestrasil, I., Ahmed, A., Wey, A., Rudser, K., Delaney, K., Rumsey, R., Haslett, P., Whitley, C.B., Potegal, M., Quantifying behaviors of children with Sanfilippo syndrome: the Sanfilippo behavior rating scale. Mol. Genet. Metab. 114 (2015), 594–598.
-
(2015)
Mol. Genet. Metab.
, vol.114
, pp. 594-598
-
-
Shapiro, E.G.1
Nestrasil, I.2
Ahmed, A.3
Wey, A.4
Rudser, K.5
Delaney, K.6
Rumsey, R.7
Haslett, P.8
Whitley, C.B.9
Potegal, M.10
-
65
-
-
84896882213
-
Assessment of sleep in children with mucopolysaccharidosis type III
-
Mahon, L.V., Lomax, M., Grant, S., Cross, E., Hare, D.J., Wraith, J.E., Jones, S., Bigger, B., Langford-Smith, K., Canal, M., Assessment of sleep in children with mucopolysaccharidosis type III. PLoS One, 9, 2014, e84128.
-
(2014)
PLoS One
, vol.9
, pp. e84128
-
-
Mahon, L.V.1
Lomax, M.2
Grant, S.3
Cross, E.4
Hare, D.J.5
Wraith, J.E.6
Jones, S.7
Bigger, B.8
Langford-Smith, K.9
Canal, M.10
-
66
-
-
33645108500
-
Impairment of the melatonin rhythm in children with Sanfilippo syndrome
-
Guerrero, J.M., Pozo, D., Diaz-Rodriguez, J.L., Martinez-Cruz, F., Vela-Campos, F., Impairment of the melatonin rhythm in children with Sanfilippo syndrome. J. Pineal. Res. 40 (2006), 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
-
67
-
-
84941773989
-
Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome)
-
Mumford, R.A., Mahon, L.V., Jones, S., Bigger, B., Canal, M., Hare, D.J., Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome). J. Neurodev. Disord., 7, 2015, 31.
-
(2015)
J. Neurodev. Disord.
, vol.7
, pp. 31
-
-
Mumford, R.A.1
Mahon, L.V.2
Jones, S.3
Bigger, B.4
Canal, M.5
Hare, D.J.6
-
68
-
-
0345268640
-
Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians
-
Fraser, J., Wraith, J.E., Delatycki, M.B., Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians. Clin. Genet. 62 (2002), 418–421.
-
(2002)
Clin. Genet.
, vol.62
, pp. 418-421
-
-
Fraser, J.1
Wraith, J.E.2
Delatycki, M.B.3
-
69
-
-
84879695342
-
Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders
-
Cross, E.M., Hare, D.J., Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders. J. Inherit. Metab. Dis. 36 (2013), 189–200.
-
(2013)
J. Inherit. Metab. Dis.
, vol.36
, pp. 189-200
-
-
Cross, E.M.1
Hare, D.J.2
-
70
-
-
84864702485
-
Challenging symptoms in children with rare life-limiting conditions: findings from a prospective diary and interview study with families
-
Malcolm, C., Hain, R., Gibson, F., Adams, S., Anderson, G., Forbat, L., Challenging symptoms in children with rare life-limiting conditions: findings from a prospective diary and interview study with families. Acta. Paediatr. 101 (2012), 985–992.
-
(2012)
Acta. Paediatr.
, vol.101
, pp. 985-992
-
-
Malcolm, C.1
Hain, R.2
Gibson, F.3
Adams, S.4
Anderson, G.5
Forbat, L.6
-
71
-
-
84956688564
-
Management of the behavioural manifestations of Hunter syndrome
-
22, 24, 26–30
-
Roberts, J., Stewart, C., Kearney, S., Management of the behavioural manifestations of Hunter syndrome. Br. J. Nurs., 25, 2016 22, 24, 26–30.
-
(2016)
Br. J. Nurs.
, vol.25
-
-
Roberts, J.1
Stewart, C.2
Kearney, S.3
-
72
-
-
84912535118
-
Early treatment is associated with improved cognition in Hurler syndrome
-
Poe, M.D., Chagnon, S.L., Escolar, M.L., Early treatment is associated with improved cognition in Hurler syndrome. Ann. Neurol. 76 (2014), 747–753.
-
(2014)
Ann. Neurol.
, vol.76
, pp. 747-753
-
-
Poe, M.D.1
Chagnon, S.L.2
Escolar, M.L.3
-
73
-
-
0041524060
-
Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature
-
Terlato, N.J., Cox, G.F., Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. Genet. Med. 5 (2003), 286–294.
-
(2003)
Genet. Med.
, vol.5
, pp. 286-294
-
-
Terlato, N.J.1
Cox, G.F.2
-
74
-
-
85034453894
-
Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses
-
Shapiro, E.G., Escolar, M.L., Delaney, K.A., Mitchell, J.J., Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses. Mol. Genet. Metab. 122 (2017), 8–16.
-
(2017)
Mol. Genet. Metab.
, vol.122
, pp. 8-16
-
-
Shapiro, E.G.1
Escolar, M.L.2
Delaney, K.A.3
Mitchell, J.J.4
-
75
-
-
34250822221
-
Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II
-
Vedolin, L., Schwartz, I.V.D., Komlos, M., Schuch, A., Puga, A.C., Pinto, L.L.C., Pires, A.P., Giugliani, R., Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II. Am. J. Neuroradiol. 28 (2007), 1029–1033.
-
(2007)
Am. J. Neuroradiol.
, vol.28
, pp. 1029-1033
-
-
Vedolin, L.1
Schwartz, I.V.D.2
Komlos, M.3
Schuch, A.4
Puga, A.C.5
Pinto, L.L.C.6
Pires, A.P.7
Giugliani, R.8
-
76
-
-
0034801764
-
Serial magnetic resonance imaging findings in mucopolysaccharidosis IIIB (Sanfilippo's syndrome B)
-
Zafeiriou, D.I., Savvopoulou-Augoustidou, P.A., Sewell, A., Papadopoulou, F., Badouraki, M., Vargiami, E., Gombakis, N.P., Katzos, G.S., Serial magnetic resonance imaging findings in mucopolysaccharidosis IIIB (Sanfilippo's syndrome B). Brain Dev. 23 (2001), 385–389.
-
(2001)
Brain Dev.
, vol.23
, pp. 385-389
-
-
Zafeiriou, D.I.1
Savvopoulou-Augoustidou, P.A.2
Sewell, A.3
Papadopoulou, F.4
Badouraki, M.5
Vargiami, E.6
Gombakis, N.P.7
Katzos, G.S.8
|