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1 . Academic Journal
Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond
저자
by
Antonio Toscano
;
Olimpia Musumeci
;
Michele Sacchini
;
Sabrina Ravaglia
;
Gabriele Siciliano
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
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7 . Academic Journal
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
저자
by
Bianca Panis
;
E. Naomi Vos
;
Ivo Barić
;
Annet M. Bosch
;
Martijn C. G. J. Brouwers
, et al.
소스
Frontiers in Genetics, Vol 15 (2024)
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7 . Academic Journal
P1392: INTERIM ANALYSIS OF FIRST IN HUMAN PHASE I-II CLINICAL TRIAL OF EX-VIVO GENE THERAPY FOR HURLER SYNDROME: AN UPDATE AT 3 YEAR FOLLOW-UP
저자
by
Francesca Tucci
;
Giulia Consiglieri
;
Chiara Filisetti
;
Maurizio De Pellegrin
;
Renata Mellone
, et al.
소스
HemaSphere, Vol 7, p e1995859 (2023)
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7 . Academic Journal
'Growth patterns in children with mucopolysaccharidosis type I-Hurler after hematopoietic stem cell transplantation: Comparison with untreated patients'
저자
by
Alessandro Cattoni
;
Sofia Chiaraluce
;
Serena Gasperini
;
Silvia Molinari
;
Andrea Biondi
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100787- (2021)
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7 . Academic Journal
Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities
저자
by
Federico Baronio
;
Stefano Zucchini
;
Francesco Zulian
;
Mariacarolina Salerno
;
Rossella Parini
, et al.
소스
Medicina, Vol 58, Iss 1, p 97 (2022)
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7 . Academic Journal
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure
저자
by
Gé-Ann Kuiper
;
Eveline J. Langereis
;
Sandra Breyer
;
Marco Carbone
;
René M. Castelein
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-16 (2019)
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7 . Academic Journal
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy
저자
by
Francesca Furlan
;
Attilio Rovelli
;
Miriam Rigoldi
;
Mirella Filocamo
;
Barbara Tappino
, et al.
소스
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 155-161 (2018)
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7 . Academic Journal
Enzyme replacement therapy: efficacy and limitations
저자
by
Daniela Concolino
;
Federica Deodato
;
Rossella Parini
.
소스
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 117-126 (2018)
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5 . Academic Journal
The new frame for Mucopolysaccharidoses
저자
by
Rossella Parini
;
Andrea Biondi
.
소스
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 1-6 (2018)
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4 . Academic Journal
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
저자
by
Anna Caciotti
;
Rodolfo Tonin
;
Matthew Mort
;
David N. Cooper
;
Serena Gasperini
, et al.
소스
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018)
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