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1 . Academic Journal
CASE SERIES OF PATIENTS UNDER BIWEEKLY TREATMENT WITH LARONIDASE: A REPORT OF A SINGLE CENTER EXPERIENCE
저자
by
Kyosen, Sandra Obikawa
;
Toma, Leny
;
Nader, Helena Bonciani
;
Braga, Marion Coting
;
Pereira, Vanessa Gonçalves
, et al.
소스
Revista Paulista de Pediatria
. September 2019 37(3)
Open Access (SciELO)
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7 . Academic Journal
Oxidative stress assessment by glutathione peroxidase activity and glutathione levels in response to selenium supplementation in patients with Mucopolysaccharidosis I, II and VI
저자
by
Oliveira-Silva, José Araújo de
;
Yamamoto, Joyce Umbelino Pinto
;
Oliveira, Renata Bernardes de
;
Monteiro, Vaneisse Cristina Lima
;
Frangipani, Beatriz Jurkiewcz
, et al.
소스
Genetics and Molecular Biology
. March 2019 42(1)
Open Access (SciELO)
Scopus
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7 . Academic Journal
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report.
저자
by
Gomes, Caio Perez
;
Marins, Maryana Mara
;
Motta, Fabiana Louise
;
Kyosen, Sandra Obikawa
;
Curiati, Marco Antonio
, et al.
소스
Frontiers in Genetics; 3/18/2020, p1-6, 6p
Scopus
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7 . Academic Journal
Endoscopic Findings in Lysosomal Acid Lipase Deficiency
저자
by
Kyosen, Sandra Obikawa
;
Geocze, Stephan
;
Yamamoto, Marcelo Hideki
;
Martins, Ana Maria
.
소스
Journal of Pediatric Gastroenterology and Nutrition
. Jun 01, 2019 68(6):e105-e105
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6 . Academic Journal
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum.
저자
by
Curiati, Marco Antonio
;
Kyosen, Sandra Obikawa
;
Pereira, Vanessa Gonçalves
;
Patrício, Francy Reis da Silva
;
Martins, Ana Maria
.
소스
Case Reports in Pediatrics
. 1/21/2018, p1-5. 5p.
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7 . Academic Journal
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.
저자
by
Gandelman Horovitz, Dafne Dain
;
Acosta, Angelina X.
;
Giugliani, Roberto
;
Hlavatá, Anna
;
Hlavatá, Katarína
, et al.
소스
Orphanet Journal of Rare Diseases
. 4/29/2016, Vol. 11, p1-8. 8p.
Open Access (BioMed Central)
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7 . Academic Journal
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.
저자
by
Al-Sannaa, Nouriya A.
;
Bay, Luisa
;
Barbouth, Deborah S.
;
Benhayoun, Youssef
;
Goizet, Cyril
, et al.
소스
Orphanet Journal of Rare Diseases
. 10/8/2015, Vol. 10 Issue 1, p1-9. 9p.
Open Access (BioMed Central)
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7 . Academic Journal
Novel GAA mutations in patients with Pompe disease.
저자
by
Turaça, Lauro Thiago
;
de Faria, Douglas Oliveira Soares
;
Kyosen, Sandra Obikawa
;
Teixeira, Valber Dias
;
Motta, Fabiana Louise
, et al.
소스
Gene
. Apr2015, Vol. 561 Issue 1, p124-131. 8p.
Full Text (ScienceDirect)
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7 . Academic Journal
Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights
저자
by
Martins, Ana Maria
;
Lindstrom, Kristin
;
Kyosen, Sandra Obikawa
;
Munoz-Rojas, Maria Veronica
;
Thibault, Nathan
, et al.
소스
BMC ENDOCRINE DISORDERS
; NOV 12 2018, 18 p83 7p.
Open Access (BioMed Central)
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7 . Academic Journal
Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: From our experience of 4 cases including an autopsy case
저자
by
Kobayashi, Hiroshi
;
Shimada, Yohta
;
Ikegami, Masahiro
;
Kawai, Toshinao
;
Sakurai, Ken
, et al.
소스
Molecular Genetics & Metabolism
. May2010, Vol. 100 Issue 1, p14-19. 6p.
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