Laura López de Frutos - Inst Invest Sanitaria Aragon IIS Aragon, Hosp Univ Miguel Servet

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论文共 66 篇作者统计合作学者相似作者

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Twice Weekly Dosing with Sebelipase Alfa (kanuma®) Rescues Severely Ill Infants with Wolman Disease

María José de Castro,Simon A Jones, Javier de las Heras, Paula Sánchez-Pintos,María L Couce, Cristóbal Colón, Pablo Crujeiras, María Unceta,Heather Church,Kathryn Brammeier, Wu Hoi Yee, James Cooper,

Orphanet Journal of Rare Diseasesno. 1 (2024): 1-9

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A phase 2 clinical study in Niemann-Pick disease type C and GM2 gangliosidosis patients (RAINBOW)

Roberto Giugliani,Daniel A. D. Valle,Dafne Horovitz,Ana Maria Martins,Laetitia Crapard, Emilie Doppler, Noemie Hurst,Laura Lopez de Frutos,Cecile Paquet Luzy

MOLECULAR GENETICS AND METABOLISMno. 2 (2024)

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Bone involvement in Gaucher disease: Can miRNAs determine or predict the severity degree

Irene Serrano Gonzalo,Laura Lopez de Frutos,Ralf Kohler,Pilar Giraldo

MOLECULAR GENETICS AND METABOLISMno. 2 (2024)

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A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidosis (PRONTO): Evaluation of different assessments

Roberto Giugliani,Paul Harmatz,Benedicte Heron,Marc Patterson,Susanne Schneider,Aurelie Bourchany,Andreas Hahn,Daniel A. D. Valle,Rita Maria Elisa Barone,Brigitte Chabrol,Anna Ardissone,Spyros Batzios,

MOLECULAR GENETICS AND METABOLISMno. 2 (2024)

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A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Baseline clinical data

Roberto Giugliani,Paul Harmatz,Benedicte Heron,Marc Patterson,Susanne Schneider,Aurelie Bourchany,Andreas Hahn,Daniel A. D. Valle, Rita Maria Elisa Barone,Brigitte Chabrol,Anna Ardissone,Spyros Batzios,

MOLECULAR GENETICS AND METABOLISMno. 2 (2024)

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Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease

María José de Castro,Simon A Jones,Javier de las Heras,Paula Sánchez-Pintos,María L Couce,Cristóbal Colón,Pablo Crujeiras,María Unceta,Heather Church,Kathryn Brammeier, Wu Hoi Yee,James Cooper,

Orphanet Journal of Rare Diseasesno. 1 (2024): 1-9

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A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Patients' and caregivers' assessments

Roberto Giugliani,Paul Harmatz,Benedicte Heron,Marc Patterson,Susanne Schneider,Aurelie Bourchany,Andreas Hahn,Daniel A. D. Valle, Rita Maria Elisa Barone,Brigitte Chabrol,Anna Ardissone,Spyros Batzios,

MOLECULAR GENETICS AND METABOLISMno. 2 (2024)

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Use of wearable sensor technology to identify digital biomarkers for monitoring gait parameters in children and adolescents with GM1 and GM2 gangliosidoses

Renata Medinaceli Quintela, Noemie Hurst,Laura Lopez de Frutos,Aurelien Thiers,Cecile Paquet Luzy, Robert M. Pipke

MOLECULAR GENETICS AND METABOLISMno. 2 (2024)

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Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project

Irene Serrano-Gonzalo,Laura López de Frutos, Carlos Lahoz-Gil, Francisco Delgado-Mateos,María Ángeles Fernández-Galán,Montserrat Morales-Conejo, María Victoria Calle-Gordo, Daiana Ibarretxe-Gerediaga,Andrés Madinaveitia-Ochoa, Antonio Albarracin-Arraigosa, José Balanzat-Muñoz,Patricia Correcher-Medina,

Orphanet journal of rare diseasesno. 1 (2023): 390-390

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P1651: impact of neutrophil extracellular traps (nets) and macrophage activation in the thrombotic events in covid-19 patients

Irene Serrano-Gonzalo,Bárbara Menéndez-Jandula,Isidro Arévalo-Vargas, Ester Franco-García,Carlos Lahoz,Paz Latre,Laura López de Frutos,Ralf Köhler,Pilar Giraldo

HemaSphereno. S3 (2023): e192464f-e192464f

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