-
1
-
-
0016910651
-
The enzymic defects in Morquio and Maroteaux-Lamy syndrome
-
Dorfman A., Arbogast B., Matalon R. The enzymic defects in Morquio and Maroteaux-Lamy syndrome. Adv. Exp. Med. Biol. 1976, 68:261-276.
-
(1976)
Adv. Exp. Med. Biol.
, vol.68
, pp. 261-276
-
-
Dorfman, A.1
Arbogast, B.2
Matalon, R.3
-
2
-
-
33947615114
-
International Morquio A Registry: clinical manifestation and natural course of Morquio A disease
-
Montaño A.M., Tomatsu S., Gottesman G.S., Smith M., Orii T. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J. Inherit. Metab. Dis. 2007, 30:165-174.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 165-174
-
-
Montaño, A.M.1
Tomatsu, S.2
Gottesman, G.S.3
Smith, M.4
Orii, T.5
-
3
-
-
43049096056
-
Growth charts for patients affected with Morquio A disease
-
Montaño A.M., Tomatsu S., Brusius A., Smith M., Orii T. Growth charts for patients affected with Morquio A disease. Am. J. Med. Genet. A. 2008, 146:1286-1295.
-
(2008)
Am. J. Med. Genet. A.
, vol.146
, pp. 1286-1295
-
-
Montaño, A.M.1
Tomatsu, S.2
Brusius, A.3
Smith, M.4
Orii, T.5
-
4
-
-
79956276859
-
Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment
-
Tomatsu S., Montaño A.M., Oikawa H., et al. Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Cur. Pharm. Biotech. 2011, 12:931-945.
-
(2011)
Cur. Pharm. Biotech.
, vol.12
, pp. 931-945
-
-
Tomatsu, S.1
Montaño, A.M.2
Oikawa, H.3
-
5
-
-
84893331707
-
Current and emerging treatments and surgical interventions for Morquio A syndrome: a review
-
Tomatsu S., Mackenzie W.G., Theroux M.C., et al. Current and emerging treatments and surgical interventions for Morquio A syndrome: a review. Res. Rep. Endocr. Disord. 2012, 2:65-77.
-
(2012)
Res. Rep. Endocr. Disord.
, vol.2
, pp. 65-77
-
-
Tomatsu, S.1
Mackenzie, W.G.2
Theroux, M.C.3
-
6
-
-
84947492149
-
Impairment of body growth in mucopolysaccharidoses. 2091-2116
-
V.R. Preedy (Ed.), © Springer science + Business media, LLC
-
S. Tomatsu, A.M. Montaño, H. Oikawa et al., Impairment of body growth in mucopolysaccharidoses. 2091-2116. In: V.R. Preedy (Ed.), Handbook of Growth and Growth Monitoring in Health and Disease, DOI 10.1007/978-1-4419-1795-9_126, © Springer science + Business media, LLC 2012b.
-
(2012)
Handbook of Growth and Growth Monitoring in Health and Disease
-
-
Tomatsu, S.1
Montaño, A.M.2
Oikawa, H.3
-
7
-
-
84882894523
-
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA
-
Hendriksz C.J., Harmatz P., Beck M., et al. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. Mol. Genet. Metab. 2013, 110:54-64.
-
(2013)
Mol. Genet. Metab.
, vol.110
, pp. 54-64
-
-
Hendriksz, C.J.1
Harmatz, P.2
Beck, M.3
-
8
-
-
64149126182
-
Sacral dimple: incidental findings from newborn evaluation. Mucopolysaccharidosis IVA disease
-
(910-912)
-
Ohashi A., Montaño A.M., Colón J.E., Oguma T., Luisiri A., Tomatsu S. Sacral dimple: incidental findings from newborn evaluation. Mucopolysaccharidosis IVA disease. Acta. Paediatr. 2009, 98:768-769. (910-912).
-
(2009)
Acta. Paediatr.
, vol.98
, pp. 768-769
-
-
Ohashi, A.1
Montaño, A.M.2
Colón, J.E.3
Oguma, T.4
Luisiri, A.5
Tomatsu, S.6
-
9
-
-
84864398695
-
Anesthetic care and perioperative complications of children with Morquio syndrome
-
Theroux M.C., Nerker T., Ditro C., Mackenzie W.G. Anesthetic care and perioperative complications of children with Morquio syndrome. Paediatr. Anaesth. 2012, 22:901-907.
-
(2012)
Paediatr. Anaesth.
, vol.22
, pp. 901-907
-
-
Theroux, M.C.1
Nerker, T.2
Ditro, C.3
Mackenzie, W.G.4
-
10
-
-
85060277369
-
Mortality in patients with Morquio syndrome A
-
C. Lavery, C. Hendriksz, Mortality in patients with Morquio syndrome A, JIMD. Rep. 15 (2015) 59-66.
-
(2015)
JIMD. Rep.
, vol.15
, pp. 59-66
-
-
Lavery, C.1
Hendriksz, C.2
-
11
-
-
84929147162
-
Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome
-
Apr 1. eCollection 2015. Review
-
Tomatsu S., Sawamoto K., Alméciga-Díaz C.J., et al. Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome. Drug. Des. Devel. Ther. 2015, 9:1937-1953. Apr 1. doi: 10.2147/DDDT.S68562. eCollection 2015. Review.
-
(2015)
Drug. Des. Devel. Ther.
, vol.9
, pp. 1937-1953
-
-
Tomatsu, S.1
Sawamoto, K.2
Alméciga-Díaz, C.J.3
-
13
-
-
84905184652
-
Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA
-
Chinen Y., Higa T., Tomatsu S., Suzuki Y., Orii T., Hyakuna N. Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA. Mol. Genet. Metab. Rep. 2014, 1:31-41.
-
(2014)
Mol. Genet. Metab. Rep.
, vol.1
, pp. 31-41
-
-
Chinen, Y.1
Higa, T.2
Tomatsu, S.3
Suzuki, Y.4
Orii, T.5
Hyakuna, N.6
-
14
-
-
84908231224
-
Morquio A syndrome: diagnosis and current and future therapies
-
Tomatsu S., Yasuda E., Patel P., et al. Morquio A syndrome: diagnosis and current and future therapies. Pediatr. Endocrinol. Rev. 2014, 12(suppl 1):141-151.
-
(2014)
Pediatr. Endocrinol. Rev.
, vol.12
, pp. 141-151
-
-
Tomatsu, S.1
Yasuda, E.2
Patel, P.3
-
15
-
-
84886943017
-
A systematic review of the clinical effectiveness and cost-effectiveness of enzyme replacement therapies for Fabry's disease and mucopolysaccharidosis type I
-
ix-113
-
Connock M., Juarez-Garcia A., Frew E., et al. A systematic review of the clinical effectiveness and cost-effectiveness of enzyme replacement therapies for Fabry's disease and mucopolysaccharidosis type I. Health Technol. Assess. 2006, 10:iii-iiv. ix-113.
-
(2006)
Health Technol. Assess.
, vol.10
, pp. 3-25
-
-
Connock, M.1
Juarez-Garcia, A.2
Frew, E.3
-
16
-
-
36849009197
-
Treatment of lysosomal storage disorders: progress with enzyme replacement therapy
-
Rohrbach M., Clarke J.T. Treatment of lysosomal storage disorders: progress with enzyme replacement therapy. Drugs 2007, 67:2697-2716.
-
(2007)
Drugs
, vol.67
, pp. 2697-2716
-
-
Rohrbach, M.1
Clarke, J.T.2
-
17
-
-
0019466750
-
Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone marrow transplantation
-
Hobbs J.R., Hugh-Jones K., Byrom N., et al. Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone marrow transplantation. Lancet 1981, 2:709-712.
-
(1981)
Lancet
, vol.2
, pp. 709-712
-
-
Hobbs, J.R.1
Hugh-Jones, K.2
Byrom, N.3
-
18
-
-
0022391417
-
Correction of 34 genetic diseases by displacement bone marrow transplantation
-
Hobbs J.R. Correction of 34 genetic diseases by displacement bone marrow transplantation. Plasma Ther. Transfus. Technol. 1985, 6:221-246.
-
(1985)
Plasma Ther. Transfus. Technol.
, vol.6
, pp. 221-246
-
-
Hobbs, J.R.1
-
19
-
-
0029634283
-
Allogeneic bone marrow transplantation for lysosomal storage diseases
-
Hoogerbrugge P.M., Brouwer O.F., Bordigoni P., et al. Allogeneic bone marrow transplantation for lysosomal storage diseases. Lancet 1995, 345:1398-1402.
-
(1995)
Lancet
, vol.345
, pp. 1398-1402
-
-
Hoogerbrugge, P.M.1
Brouwer, O.F.2
Bordigoni, P.3
-
20
-
-
84923238572
-
Long-term follow-up of post haematopoietic stem cell transplantation for the patient with Hurler syndrome: correlation between pathological phenotype, biomarker and clinical improvement
-
Yasuda E., Mackenzie W.G., Ruhnke K., et al. Long-term follow-up of post haematopoietic stem cell transplantation for the patient with Hurler syndrome: correlation between pathological phenotype, biomarker and clinical improvement. Mol. Genet. Metab. Rep. 2015, 2:65-76.
-
(2015)
Mol. Genet. Metab. Rep.
, vol.2
, pp. 65-76
-
-
Yasuda, E.1
Mackenzie, W.G.2
Ruhnke, K.3
-
21
-
-
84921644517
-
Activities of daily living in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation
-
Tanjuakio J., Suzuki Y., Patel P., et al. Activities of daily living in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation. Mol. Genet. Metab. 2015, 114:161-169.
-
(2015)
Mol. Genet. Metab.
, vol.114
, pp. 161-169
-
-
Tanjuakio, J.1
Suzuki, Y.2
Patel, P.3
-
22
-
-
84905161961
-
Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with Hunter syndrome
-
Patel P., Suzuki Y., Tanaka A., et al. Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with Hunter syndrome. Mol. Genet. Metab. Rep. 2014, 1:184-196.
-
(2014)
Mol. Genet. Metab. Rep.
, vol.1
, pp. 184-196
-
-
Patel, P.1
Suzuki, Y.2
Tanaka, A.3
-
23
-
-
84867901875
-
Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan
-
Tanaka A., Okuyama T., Suzuki Y., et al. Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan. Mol. Genet. Metab. 2012, 107:513-520.
-
(2012)
Mol. Genet. Metab.
, vol.107
, pp. 513-520
-
-
Tanaka, A.1
Okuyama, T.2
Suzuki, Y.3
-
24
-
-
28844443166
-
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)
-
Tomatsu S., Montaño A.M., Nishioka T., et al. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Hum. Mutat. 2005, 26:500-512.
-
(2005)
Hum. Mutat.
, vol.26
, pp. 500-512
-
-
Tomatsu, S.1
Montaño, A.M.2
Nishioka, T.3
-
25
-
-
33747022426
-
Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene
-
Tomatsu S., Montaño A.M., Lopez P., et al. Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene. Mol. Genet. Metab. 2006, 89:139-149.
-
(2006)
Mol. Genet. Metab.
, vol.89
, pp. 139-149
-
-
Tomatsu, S.1
Montaño, A.M.2
Lopez, P.3
-
26
-
-
84969432579
-
Preconditioning regimens for bone marrow transplantation in patients with congenital metabolic diseases
-
Yabe H., Yabe M., Hattori K., et al. Preconditioning regimens for bone marrow transplantation in patients with congenital metabolic diseases. Exp. Hematol. 2001, 29(suppl):94.
-
(2001)
Exp. Hematol.
, vol.29
, pp. 94
-
-
Yabe, H.1
Yabe, M.2
Hattori, K.3
-
27
-
-
84969420434
-
-
Japan Society for Hematopoietic Cell Transplantation Monograph 2002, 7:39.
-
(2002)
, vol.7
, pp. 39
-
-
-
28
-
-
84929052765
-
Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines. See comment in PubMed Commons below
-
Aldenhoven M., Jones S.A., Bonney D., Borrill R.E., Coussons M., Mercer J., Bierings M.B., Versluys B., van Hasselt P.M., Wijburg F.A., van der Ploeg A.T., Wynn R.F., Boelens J.J. Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines. See comment in PubMed Commons below. Biol. Blood Marrow Transplant 2015, 21:1106-1109.
-
(2015)
Biol. Blood Marrow Transplant
, vol.21
, pp. 1106-1109
-
-
Aldenhoven, M.1
Jones, S.A.2
Bonney, D.3
Borrill, R.E.4
Coussons, M.5
Mercer, J.6
Bierings, M.B.7
Versluys, B.8
van Hasselt, P.M.9
Wijburg, F.A.10
van der Ploeg, A.T.11
Wynn, R.F.12
Boelens, J.J.13
-
29
-
-
84864075455
-
Allogeneic hematopoietic stem cell transplantation in thalassemia major: results of a reduced-toxicity conditioning regimen based on the use of treosulfan
-
Bernardo M.E., Piras E., Vacca A., et al. Allogeneic hematopoietic stem cell transplantation in thalassemia major: results of a reduced-toxicity conditioning regimen based on the use of treosulfan. Blood 2012, 120:473-476.
-
(2012)
Blood
, vol.120
, pp. 473-476
-
-
Bernardo, M.E.1
Piras, E.2
Vacca, A.3
-
30
-
-
79956040256
-
Treosulfan-based conditioning regimens for hematopoietic stem cell transplantation in children with primary immunodeficiency: United Kingdom experience
-
Slatter M.A., Rao K., Amrolia P., et al. Treosulfan-based conditioning regimens for hematopoietic stem cell transplantation in children with primary immunodeficiency: United Kingdom experience. Blood 2011, 117:4367-4375.
-
(2011)
Blood
, vol.117
, pp. 4367-4375
-
-
Slatter, M.A.1
Rao, K.2
Amrolia, P.3
-
31
-
-
84929239251
-
Treosulfan-based conditioning regimen for allogeneic haematopoietic stem cell transplantation in children with sickle cell disease
-
Strocchio L., Zecca M., Comoli P., et al. Treosulfan-based conditioning regimen for allogeneic haematopoietic stem cell transplantation in children with sickle cell disease. Br. J. Haematol. 2015, 169:726-736.
-
(2015)
Br. J. Haematol.
, vol.169
, pp. 726-736
-
-
Strocchio, L.1
Zecca, M.2
Comoli, P.3
-
32
-
-
84856113386
-
Treosulfan-based preparative regimens for allo-HSCT in childhood hematological malignancies: a retrospective study on behalf of the EBMT pediatric diseases working party
-
Wachowiak J., Sykora K.W., Cornish J., et al. Treosulfan-based preparative regimens for allo-HSCT in childhood hematological malignancies: a retrospective study on behalf of the EBMT pediatric diseases working party. Bone Marrow Transplant. 2011, 46:1510-1518.
-
(2011)
Bone Marrow Transplant.
, vol.46
, pp. 1510-1518
-
-
Wachowiak, J.1
Sykora, K.W.2
Cornish, J.3
-
33
-
-
84909981245
-
Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome
-
Schwinger W., Sovinz P., Benesch M., et al. Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome. Pediatr. Hematol. Oncol. 2014, 31:723-730.
-
(2014)
Pediatr. Hematol. Oncol.
, vol.31
, pp. 723-730
-
-
Schwinger, W.1
Sovinz, P.2
Benesch, M.3
-
34
-
-
84882864329
-
Newborn screening and diagnosis of mucopolysaccharidoses
-
Tomatsu S., Fujii T., Fukushi M., et al. Newborn screening and diagnosis of mucopolysaccharidoses. Mol. Genet. Metab. 2013, 110:42-53.
-
(2013)
Mol. Genet. Metab.
, vol.110
, pp. 42-53
-
-
Tomatsu, S.1
Fujii, T.2
Fukushi, M.3
-
35
-
-
0000869162
-
The mucopolysaccharidoses
-
McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.)
-
Neufeld E.F., Muenzer J. The mucopolysaccharidoses. The Metabolic Basis of Inherited Diseases 2001, 3421-3452. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
-
(2001)
The Metabolic Basis of Inherited Diseases
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
36
-
-
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., et al. 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 1998, 91:2601-2608.
-
(1998)
Blood
, vol.91
, pp. 2601-2608
-
-
Peters, C.1
Shapiro, E.G.2
Anderson, J.3
-
37
-
-
2342535103
-
Cord-blood transplants from unrelated donors in patients with Hurler's syndrome
-
Staba S.L., Escolar M.L., Poe M., et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N. Engl. J. Med. 2004, 350:1960-1969.
-
(2004)
N. Engl. J. Med.
, vol.350
, pp. 1960-1969
-
-
Staba, S.L.1
Escolar, M.L.2
Poe, M.3
-
38
-
-
64549141555
-
Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years
-
Guffon N., Bertrand Y., Forest I., Fouilhoux A., Froissart R. Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years. J. Pediatr. 2009, 154:733-737.
-
(2009)
J. Pediatr.
, vol.154
, pp. 733-737
-
-
Guffon, N.1
Bertrand, Y.2
Forest, I.3
Fouilhoux, A.4
Froissart, R.5
-
39
-
-
11144325072
-
Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases
-
Krivit W. Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases. Springer Semin. Immunopathol. 2004, 26:119-132.
-
(2004)
Springer Semin. Immunopathol.
, vol.26
, pp. 119-132
-
-
Krivit, W.1
-
40
-
-
0031907997
-
Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation
-
Yamada Y., Kato K., Sukegawa K., et al. Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation. Bone Marrow Transplant. 1988, 21:629-634.
-
(1988)
Bone Marrow Transplant.
, vol.21
, pp. 629-634
-
-
Yamada, Y.1
Kato, K.2
Sukegawa, K.3
-
41
-
-
34548692093
-
Hematopoietic cell therapy for metabolic disease
-
Orchard P.J., Blazar B.R., Wagner J., Charnas L., Krivit W., Tolar J. Hematopoietic cell therapy for metabolic disease. J. Pediatr. 2007, 151:340-346.
-
(2007)
J. Pediatr.
, vol.151
, pp. 340-346
-
-
Orchard, P.J.1
Blazar, B.R.2
Wagner, J.3
Charnas, L.4
Krivit, W.5
Tolar, J.6
-
42
-
-
84905171849
-
Future research needs for hematopoietic stem-cell transplantation in the pediatric population: identification of future research needs from comparative effectiveness review
-
[Internet], Rockville (MD): Agency for Healthcare Research and Quality (US),
-
S. Belinson, B. Mauger Rothenberg, R. Chopra, N. Aronson, Future research needs for hematopoietic stem-cell transplantation in the pediatric population: identification of future research needs from comparative effectiveness review No. 48 [Internet], Rockville (MD): Agency for Healthcare Research and Quality (US), (2012).
-
(2012)
, Issue.48
-
-
Belinson, S.1
Mauger Rothenberg, B.2
Chopra, R.3
Aronson, N.4
-
43
-
-
84896735986
-
Therapies of Mucopolysaccharidosis IVA (Morquio A Syndrome)
-
Tomatsu S., Alméciga-Díaz C.J., Barbosa H., Montaño A.M., et al. Therapies of Mucopolysaccharidosis IVA (Morquio A Syndrome). Expert Opin. Orphan Drugs 2013, 1:805-818.
-
(2013)
Expert Opin. Orphan Drugs
, vol.1
, pp. 805-818
-
-
Tomatsu, S.1
Alméciga-Díaz, C.J.2
Barbosa, H.3
Montaño, A.M.4
-
44
-
-
84880314796
-
Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning
-
Boelens J.J., Aldenhoven M., Purtill D., et al. Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning. Blood 2013, 121:3981-3987.
-
(2013)
Blood
, vol.121
, pp. 3981-3987
-
-
Boelens, J.J.1
Aldenhoven, M.2
Purtill, D.3
-
46
-
-
84957846976
-
Obstructive airway in Morquio A syndrome, the past, the present and the future
-
Tomatsu S., Averill L.W., Sawamoto K., Mackenzie W.G., Bober M.B., Pizarro C., Goff C.J., Xie L., Orii T., Theroux M. Obstructive airway in Morquio A syndrome, the past, the present and the future. Mol. Genet. Metab. 2016, 117:150-156.
-
(2016)
Mol. Genet. Metab.
, vol.117
, pp. 150-156
-
-
Tomatsu, S.1
Averill, L.W.2
Sawamoto, K.3
Mackenzie, W.G.4
Bober, M.B.5
Pizarro, C.6
Goff, C.J.7
Xie, L.8
Orii, T.9
Theroux, M.10
|