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1 . Academic Journal
Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II
저자
by
Fabio Catalano
;
Eva C. Vlaar
;
Drosos Katsavelis
;
Zina Dammou
;
Tessa F. Huizer
, et al.
소스
Molecular Therapy: Methods & Clinical Development, Vol 31, Iss , Pp 101149- (2023)
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7 .
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
저자
by
Marne C. Hagemeijer
;
Jeroen C. van den Bosch
;
Michiel Bongaerts
;
Edwin H. Jacobs
;
Johanna M. P. van den Hout
, et al.
소스
Journal of Inherited Metabolic Disease, 46(2), 206-219. Springer Netherlands
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7 .
Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development
저자
by
Anna López Martí
;
Laura E. Kuil
;
George J. G. Ruijter
;
Herma C. van der Linde
;
Ana Carreras Mascaro
, et al.
소스
GLIA, 67(9), 1705-1718. John Wiley & Sons Inc.
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7 .
Rapid Ultraperformance Liquid Chromatography–Tandem Mass Spectrometry Assay for a Characteristic Glycogen-Derived Tetrasaccharide in Pompe Disease and Other Glycogen Storage Diseases
저자
by
Arnold J. J. Reuser
;
Juna M. de Vries
;
J. G. M. Huijmans
;
Daphne A. Goudriaan
;
Wim Sluiter
, et al.
소스
Clinical Chemistry, 58(7), 1139-1147. American Association for Clinical Chemistry Inc.
Clinical Chemistry; Vol 58
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7 .
Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS
저자
by
Monique Piraud
;
Jeroen C. van den Bosch
;
Malgorzata I. Srebniak
;
Frans W. Verheijen
;
J. G. M. Huijmans
, et al.
소스
Journal of Inherited Metabolic Disease, 34(5), 1069-1073. Springer Netherlands
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