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1 . Academic Journal
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program
저자
by
Roberto Giugliani
;
Antonio Gonzalez-Meneses
;
Maurizio Scarpa
;
Barbara Burton
;
Raymond Wang
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
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7 . Academic Journal
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial
저자
by
Melissa P. Wasserstein
;
Robin Lachmann
;
Carla Hollak
;
Antonio Barbato
;
Renata C. Gallagher
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
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7 . Academic Journal
Follow-up of pre-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF
저자
by
Matheus Vernet Machado Bressan Wilke
;
Fabiano Poswar
;
Wyllians Vendramini Borelli
;
Kristiane Michelin Tirelli
;
Dévora Natalia Randon
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
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7 . Academic Journal
Disease progression in Sanfilippo type B: Case series of Brazilian patients
저자
by
Yorran Hardman Araújo Montenegro
;
Francyne Kubaski
;
Franciele Barbosa Trapp
;
Mariluce Riegel-Giugliani
;
Carolina Fischinger Moura de Souza
, et al.
소스
Genetics and Molecular Biology, Vol 47, Iss 1 (2024)
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7 . Academic Journal
P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP)
저자
by
Roberto Giugliani
;
Antonio Gonzalez-Meneses
;
Christina Grant
;
Maurizio Scarpa
;
Angela Sun
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101157- (2024)
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7 . Academic Journal
P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis
저자
by
Can Ficicioglu
;
Nicole Muschol
;
Barbara Burton
;
Martin Magner
;
Mercedes Gil-Campos
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101385- (2024)
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7 . Academic Journal
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
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by
Tarekegn Geberhiwot
;
Melissa Wasserstein
;
Subadra Wanninayake
;
Shaun Christopher Bolton
;
Andrea Dardis
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-28 (2023)
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7 . Academic Journal
Neonatal screening for spinal muscular atrophy: A pilot study in Brazil
저자
by
Alice Brinckmann Oliveira Netto
;
Ana Carolina Brusius-Facchin
;
Júlia F. Lemos
;
Fernanda B. Pasetto
;
Carolina S. Brasil
, et al.
소스
Genetics and Molecular Biology, Vol 46, Iss 3 suppl 1 (2023)
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7 . Academic Journal
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective
저자
by
Têmis Maria Félix
;
Carolina Fischinger Moura de Souza
;
João Bosco Oliveira
;
Mariana Rico-Restrepo
;
Edmar Zanoteli
, et al.
소스
International Journal for Equity in Health, Vol 22, Iss 1, Pp 1-10 (2023)
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7 . Academic Journal
A Brazilian Rare-Disease Center’s Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF
저자
by
Matheus Vernet Machado Bressan Wilke
;
Gabrielle Dineck Iop
;
Larissa Faqueti
;
Layzon Antonio Lemos da Silva
;
Francyne Kubaski
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2870 (2024)
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