Dataciencia

Colección SciELO Chile

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases

Indexado

WoS	WOS:000378981800012
Scopus	SCOPUS_ID:84971367852

DOI

10.1016/J.YMGME.2016.05.001

Año

2016

Tipo

artículo de investigación

Citas Totales

Autores Afiliación Chile

Instituciones Chile

% Participación
Internacional

Autores
Afiliación Extranjera

Instituciones
Extranjeras

Abstract

Conclusions: The analysis emphasizes that treatment goals for patients with chronic visceral and chronic neurovisceral ASMD should include reducing splenomegaly and improving liver function and respiratory status, with the ultimate goal of decreasing serious morbidity and mortality. (C) 2016 The Authors. Published by Elsevier Inc.

Revista

Revista	ISSN
Molecular Genetics And Metabolism	1096-7192

Métricas Externas

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Disciplinas de Investigación

WOS
Biochemistry & Molecular Biology
Genetics & Heredity
Medicine, Research & Experimental
Endocrinology & Metabolism

Scopus
Sin Disciplinas

SciELO
Sin Disciplinas

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Publicaciones WoS (Ediciones: ISSHP, ISTP, AHCI, SSCI, SCI), Scopus, SciELO Chile.

Colaboración Institucional

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Autores - Afiliación

Ord.	Autor	Género	Institución - País
1	Cassiman, David	Hombre	Univ Leuven - Bélgica KU Leuven - Bélgica
2	Packman, Seymour	Hombre	UNIV CALIF SAN FRANCISCO - Estados Unidos University of California, San Francisco - Estados Unidos
3	Bembi, Bruno	Hombre	Hosp Udine - Italia Academic Hospital of Udine - Italia Policlinico Universitario, Udine - Italia
4	Ben Turkia, Hadhami	-	La Rabta Hosp - Túnez Université de Tunis El Manar, Hôpital la Rabta - Túnez
4	Turkia, Hadhami Ben	-	Université de Tunis El Manar, Hôpital la Rabta - Túnez La Rabta Hosp - Túnez
5	Al-Sayed, Moeenaldeen	-	King Faisal Specialist Hosp & Res Ctr - Arabia Saudí King Faisal Specialist Hospital and Research Centre - Arabia Saudí
6	Schiff, Miriam	Mujer	Univ Paris Diderot - Francia INSERM - Francia Université de Paris - Francia Université Paris Cité - Francia
7	Imrie, Jackie	-	Niemann Pick Dis Grp UK - Reino Unido Niemann-Pick Disease Group (UK) - Reino Unido
8	MABE-SANTANA, PAULINA	Mujer	Hosp Dr Exequiel Gonzalez Cortes - Chile Hospital Dr. Exequiel González Cortés - Chile
9	Takahashi, Tsutomu	Hombre	Akita Univ - Japón Akita University School of Medicine - Japón Faculty of Medicine - Japón
10	Mengel, Karl Eugen	Hombre	Univ Med Ctr - Alemania Klinikum der Johannes-Gutenberg-Universität und Fachbereich Medizin - Alemania Universitätsmedizin Mainz - Alemania
11	Giugliani, Roberto	Hombre	Univ Fed Rio Grande do Sul - Brasil INAGEMP - Brasil Hospital de Clínicas de Porto Alegre - Brasil
12	Cox, Gerald F.	Hombre	Sanofi Genzyme - Estados Unidos Genzyme Corporation - Estados Unidos

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Origen de Citas Identificadas

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Citas identificadas: Las citas provienen de documentos incluidos en la base de datos de DATACIENCIA

Citas Identificadas: 2.9 %
Citas No-identificadas: 97.1 %

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Citas identificadas: Las citas provienen de documentos incluidos en la base de datos de DATACIENCIA

Citas Identificadas: 2.9 %
Citas No-identificadas: 97.1 %

Financiamiento

Fuente
Merck
KU Leuven
Shire
Sanofi Genzyme
Actelion
Actelion Pharmaceuticals
BioMarin
Alexion
Amicus
Synageva
Orphazyme
Actelion and Orphazyme
Shire and Actelion

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Agradecimientos

Agradecimiento
The authors thank Iva Ivanovska Holder, PhD and Bernd-Jan. Sanson, MD, Global medical Affairs, Sanofi Genzyme, for help with data collection, analysis, and critical review of the manuscript. The authors acknowledge Marc Yudkoff, MD, The Children's Hospital of Philadelphia, for data contribution. Sanofi Genzyme was the sponsor and provided support for the design and conduct of the study. Patrice C Ferriola, PhD provided writing assistance and James MacDougall provided assistance with data analyses; both were funded by the study sponsor. J Imrie has received consultancy fees and travel support from Actelion and Orphazyme; ICE Mengel has received speakers fees, consultation honoraria, consultancy fees, and travel reimbursements from Sanofi Genzyme, Shire, Biomarin, Actelion, Merck, Alexion and Orphazyme; The Leuven University Hospitals and Leuven University received travel reimbursements, speaker fees and research grants on behalf of D Cassiman, from Sanofi Genzyme, Shire and Actelion; P Mabe has received lectures fees from Sanofi Genzyme and Biomarin; M Al-Sayed has received travel support and honoraria from Sanofi Genzyme; B Bembi has received consultancy fees and research grants from Sanofi Genzyme, Shire, and Actelion; R Giugliani has received investigator fees, speaker honoraria, and travel grants from Sanofi Genzyme, Shire, BioMarin, Amicus, Actelion, and Synageva; S Pckman has received research, education, and program support, variously, from Sanofi Genzyme, Shire, Amicus, BioMarin, and Actelion; T Takahashi has received research support from Sanofi Genzyme; G Cox is an employee of Sanofi Genzyme; M Schiff has no competing interests to disclose.
The authors thank Iva Ivanovska Holder, PhD and Bernd-Jan. Sanson, MD, Global medical Affairs, Sanofi Genzyme, for help with data collection, analysis, and critical review of the manuscript. The authors acknowledge Marc Yudkoff, MD, The Children's Hospital of Philadelphia, for data contribution. Sanofi Genzyme was the sponsor and provided support for the design and conduct of the study. Patrice C Ferriola, PhD provided writing assistance and James MacDougall provided assistance with data analyses; both were funded by the study sponsor. J Imrie has received consultancy fees and travel support from Actelion and Orphazyme; KE Mengel has received speakers fees, consultation honoraria, consultancy fees, and travel reimbursements from Sanofi Genzyme, Shire, Biomarin, Actelion, Merck, Alexion and Orphazyme; The Leuven University Hospitals and Leuven University received travel reimbursements, speaker fees and research grants on behalf of D Cassiman, from Sanofi Genzyme, Shire and Actelion; P Mabe has received lectures fees from Sanofi Genzyme and Biomarin; M Al-Sayed has received travel support and honoraria from Sanofi Genzyme; B Bembi has received consultancy fees and research grants from Sanofi Genzyme, Shire, and Actelion; R Giugliani has received investigator fees, speaker honoraria, and travel grants from Sanofi Genzyme, Shire, BioMarin, Amicus, Actelion, and Synageva; S Pckman has received research, education, and program support, variously, from Sanofi Genzyme, Shire, Amicus, BioMarin, and Actelion; T Takahashi has received research support from Sanofi Genzyme; G Cox is an employee of Sanofi Genzyme; M Schiff has no competing interests to disclose.

Agradecimiento

The authors thank Iva Ivanovska Holder, PhD and Bernd-Jan. Sanson, MD, Global medical Affairs, Sanofi Genzyme, for help with data collection, analysis, and critical review of the manuscript. The authors acknowledge Marc Yudkoff, MD, The Children's Hospital of Philadelphia, for data contribution. Sanofi Genzyme was the sponsor and provided support for the design and conduct of the study. Patrice C Ferriola, PhD provided writing assistance and James MacDougall provided assistance with data analyses; both were funded by the study sponsor. J Imrie has received consultancy fees and travel support from Actelion and Orphazyme; ICE Mengel has received speakers fees, consultation honoraria, consultancy fees, and travel reimbursements from Sanofi Genzyme, Shire, Biomarin, Actelion, Merck, Alexion and Orphazyme; The Leuven University Hospitals and Leuven University received travel reimbursements, speaker fees and research grants on behalf of D Cassiman, from Sanofi Genzyme, Shire and Actelion; P Mabe has received lectures fees from Sanofi Genzyme and Biomarin; M Al-Sayed has received travel support and honoraria from Sanofi Genzyme; B Bembi has received consultancy fees and research grants from Sanofi Genzyme, Shire, and Actelion; R Giugliani has received investigator fees, speaker honoraria, and travel grants from Sanofi Genzyme, Shire, BioMarin, Amicus, Actelion, and Synageva; S Pckman has received research, education, and program support, variously, from Sanofi Genzyme, Shire, Amicus, BioMarin, and Actelion; T Takahashi has received research support from Sanofi Genzyme; G Cox is an employee of Sanofi Genzyme; M Schiff has no competing interests to disclose.

The authors thank Iva Ivanovska Holder, PhD and Bernd-Jan. Sanson, MD, Global medical Affairs, Sanofi Genzyme, for help with data collection, analysis, and critical review of the manuscript. The authors acknowledge Marc Yudkoff, MD, The Children's Hospital of Philadelphia, for data contribution. Sanofi Genzyme was the sponsor and provided support for the design and conduct of the study. Patrice C Ferriola, PhD provided writing assistance and James MacDougall provided assistance with data analyses; both were funded by the study sponsor. J Imrie has received consultancy fees and travel support from Actelion and Orphazyme; KE Mengel has received speakers fees, consultation honoraria, consultancy fees, and travel reimbursements from Sanofi Genzyme, Shire, Biomarin, Actelion, Merck, Alexion and Orphazyme; The Leuven University Hospitals and Leuven University received travel reimbursements, speaker fees and research grants on behalf of D Cassiman, from Sanofi Genzyme, Shire and Actelion; P Mabe has received lectures fees from Sanofi Genzyme and Biomarin; M Al-Sayed has received travel support and honoraria from Sanofi Genzyme; B Bembi has received consultancy fees and research grants from Sanofi Genzyme, Shire, and Actelion; R Giugliani has received investigator fees, speaker honoraria, and travel grants from Sanofi Genzyme, Shire, BioMarin, Amicus, Actelion, and Synageva; S Pckman has received research, education, and program support, variously, from Sanofi Genzyme, Shire, Amicus, BioMarin, and Actelion; T Takahashi has received research support from Sanofi Genzyme; G Cox is an employee of Sanofi Genzyme; M Schiff has no competing interests to disclose.

Muestra la fuente de financiamiento declarada en la publicación.

Abstract

Revista

Métricas Externas

Disciplinas de Investigación

Colaboración Institucional

Autores - Afiliación

Origen de Citas Identificadas

Financiamiento

Agradecimientos

Departamento Gestión de Conocimiento, Monitoreo y Prospección