-
1
-
-
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., et al. 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
-
2
-
-
34447121276
-
Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: Results of a multinational study of recombinant human alpha-l-iduronidase (laronidase)
-
Wraith J.E., Beck M., Lane R., et al. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: Results of a multinational study of recombinant human alpha-l-iduronidase (laronidase). Pediatrics 120 (2007) e37-e46
-
(2007)
Pediatrics
, vol.120
-
-
Wraith, J.E.1
Beck, M.2
Lane, R.3
-
3
-
-
38849109999
-
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease
-
Auray-Blais C., Cyr D., Ntwari A., et al. Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol Genet Metab 93 (2008) 331-340
-
(2008)
Mol Genet Metab
, vol.93
, pp. 331-340
-
-
Auray-Blais, C.1
Cyr, D.2
Ntwari, A.3
-
4
-
-
56049083416
-
-
PaschkeE, FaulerG, UrbanW, et al. Isoforms of globotriaosylceramide in urine can be used to identify female Fabry patients. Lecture presented at: 16th ESGLD Workshop-European Study Group of Lysosomal Diseases, September 27-30, 2007, Perugia, Italy.
-
PaschkeE, FaulerG, UrbanW, et al. Isoforms of globotriaosylceramide in urine can be used to identify female Fabry patients. Lecture presented at: 16th ESGLD Workshop-European Study Group of Lysosomal Diseases, September 27-30, 2007, Perugia, Italy.
-
-
-
-
5
-
-
34848819423
-
Influence of antibody formation on reduction of globotriaosylceramide (GL-3) in urine from Fabry patients during agalsidase beta therapy
-
Ohashi T., Sakuma M., Kitagawa T., et al. Influence of antibody formation on reduction of globotriaosylceramide (GL-3) in urine from Fabry patients during agalsidase beta therapy. Mol Genet Metab 92 (2007) 271-273
-
(2007)
Mol Genet Metab
, vol.92
, pp. 271-273
-
-
Ohashi, T.1
Sakuma, M.2
Kitagawa, T.3
-
6
-
-
23044457558
-
Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease
-
An Y., Young S.P., Kishnani P.S., et al. Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease. Mol Genet Metab 85 (2005) 247-254
-
(2005)
Mol Genet Metab
, vol.85
, pp. 247-254
-
-
An, Y.1
Young, S.P.2
Kishnani, P.S.3
-
7
-
-
0042131675
-
The natural course of infantile Pompe's disease: 20 Original cases compared with 133 cases from the literature
-
van den Hout H.M., Hop W., van Diggelen O.P., et al. The natural course of infantile Pompe's disease: 20 Original cases compared with 133 cases from the literature. Pediatrics 112 (2003) 332-340
-
(2003)
Pediatrics
, vol.112
, pp. 332-340
-
-
van den Hout, H.M.1
Hop, W.2
van Diggelen, O.P.3
-
8
-
-
0031464244
-
Plasma and metabolic abnormalities in Gaucher's disease
-
Aerts J.M., and Hollak C.E. Plasma and metabolic abnormalities in Gaucher's disease. Baillieres Clin Haematol 10 (1997) 691-709
-
(1997)
Baillieres Clin Haematol
, vol.10
, pp. 691-709
-
-
Aerts, J.M.1
Hollak, C.E.2
-
9
-
-
24644469894
-
Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease
-
Deegan P.B., Moran M.T., McFarlane I., et al. Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol Dis 35 (2005) 259-267
-
(2005)
Blood Cells Mol Dis
, vol.35
, pp. 259-267
-
-
Deegan, P.B.1
Moran, M.T.2
McFarlane, I.3
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