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1 . Academic Journal
Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI
저자
by
Brands, Marion M. M. G.
;
Frohn-Mulder, Ingrid M.
;
Hagemans, Marloes L. C.
;
Hop, Wim C. J.
;
Oussoren, Esmee
, et al.
소스
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism
. March 2013 36(2):227-234
Web of Science
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7 . Academic Journal
PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease
저자
by
Hagemans, Marloes L. C.
;
Stigter, Rolinda L.
;
van Capelle, Carine I.
;
van der Beek, Nadine A. M. E.
;
Winkel, Leon P. F.
, et al.
소스
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism
. April 2010 33(2):133-139
Web of Science
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7 . Academic Journal
The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients
저자
by
van Capelle, Carine I.
;
van der Beek, Nadine A. M. E.
;
de Vries, Juna M.
;
van Doorn, Pieter A.
;
Duivenvoorden, Hugo J.
, et al.
소스
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism
. March 2012 35(2):317-323
Web of Science
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7 . Academic Journal
Burden of illness of Pompe disease in patients only receiving supportive care
저자
by
Kanters, Tim A.
;
Hagemans, Marloes L. C.
;
van der Beek, Nadine A. M. E.
;
Rutten, Frans F. H.
;
van der Ploeg, Ans T.
, et al.
소스
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism
. October 2011 34(5):1045-1052
Web of Science
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7 . Academic Journal
Enzyme replacement therapy and fatigue in adults with Pompe disease
저자
by
Gungor, Deniz
;
de Vries, Juna M.
;
Brusse, Esther
;
Kruijshaar, Michelle E.
;
Hop, Wim C. J.
, et al.
소스
MOLECULAR GENETICS AND METABOLISM
; JUN 2013, 109 2, p174-p178, 5p.
Full Text (ScienceDirect)
Scopus
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7 . Academic Journal
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
저자
by
van der Beek, Nadine A. M. E.
;
de Vries, Juna M.
;
Hagemans, Marloes L. C.
;
Hop, Wim C. J.
;
Kroos, Marian A.
, et al.
소스
ORPHANET JOURNAL OF RARE DISEASES
; NOV 12 2012, 7 p88 13p.
Open Access (BioMed Central)
Scopus
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7 . Academic Journal
Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening
저자
by
Rigter, Tessel
;
Weinreich, Stephanie S.
;
van El, Carla G.
;
de Vries, Juna M.
;
van Gelder, Carin M.
, et al.
소스
MOLECULAR GENETICS AND METABOLISM
; NOV 2012, 107 3, p448-p455, 8p.
Full Text (ScienceDirect)
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7 . Academic Journal
Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy
저자
by
Guengoer, Deniz
;
de Vries, Juna M.
;
Hop, Wim C. J.
;
Reuser, Arnold J. J.
;
van Doorn, Pieter A.
, et al.
소스
ORPHANET JOURNAL OF RARE DISEASES
; JUN 1 2011, 6 p34 8p.
Open Access (BioMed Central)
Scopus
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7 . Academic Journal
Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study
저자
by
Gungor, Deniz
;
Kruijshaar, Michelle E.
;
Plug, Iris
;
D'Agostino, Ralph B., Sr.
;
Hagemans, Marloes L. C.
, et al.
소스
ORPHANET JOURNAL OF RARE DISEASES
; MAR 27 2013, 8 p49 7p.
Open Access (BioMed Central)
Scopus
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7 . Academic Journal
Fatigue: an important feature of late-onset Pompe disease
저자
by
Hagemans, Marloes L. C.
;
van Schie, Sabine P. M.
;
Janssens, A. Cecile J. W.
;
Van Doorn, Pieter A.
;
Reuser, Arnold J. J.
, et al.
소스
JOURNAL OF NEUROLOGY
; JUL 2007, 254 7, p941-p945, 5p.
Full Text (Springer)
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