يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"Diana Bruschini"', وقت الاستعلام: 0.89s تنقيح النتائج
  1. 1
    Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

    المؤلفون: Alessandro Filla, Mirella Alpa, Agata Fiumara, G. Mansi, Ennio Del Giudice, Silvia Palmeri, Dario Roccatello, Giancarlo Parenti, Orazio Gabrielli, Antonio Federico, Adele D'Amico, Maja Di Rocco, Federica Deodato, Generoso Andria, Stefania Caviglia, Roberto Della Casa, Lucia Santoro, Alfonso Romano, Anna Ardissone, Cinzia Valeria Russo, Bruno Bembi, Carlo Dionisi-Vici, Diana Bruschini, Simona Fecarotta, Andrea Dardis, Graziella Uziel, Enrico Bertini

    المساهمون: Fecarotta, Simona, Romano, Alfonso, DELLA CASA, Roberto, DEL GIUDICE, Ennio, Bruschini, Diana, Mansi, Giuseppina, Bembi, Bruno, Dardis, Andrea, Fiumara, Agata, Di Rocco, Maja, Uziel, Graziella, Ardissone, Anna, Roccatello, Dario, Alpa, Mirella, Bertini, Enrico, D'Amico, Adele, Dionisi Vici, Carlo, Deodato, Federica, Caviglia, Stefania, Federico, Antonio, Palmeri, Silvia, Gabrielli, Orazio, Santoro, Lucia, Filla, Alessandro, Russo, Cinzia, Parenti, Giancarlo, Andria, Generoso

    المصدر: Europe PubMed Central
    Orphanet Journal of Rare Diseases

    مصطلحات موضوعية: Niemann-Pick disease type C, NPC, Miglustat, NB-DNJ, Substrate reduction therapy, Treatment, Therapy, Miglustat, NB-DNJ, Substrate reduction therapy, Treatment, Therapy, Adult, Male, Pediatrics, medicine.medical_specialty, 1-Deoxynojirimycin, Adolescent, Drug Administration Schedule, Young Adult, Dysarthria, Swallowing, Multicenter trial, Miglustat, medicine, Humans, NB-DNJ, Genetics(clinical), Pharmacology (medical), Enzyme Inhibitors, Young adult, Child, Niemann-Pick disease type C, NPC, Substrate reduction therapy, Treatment, Therapy, Genetics (clinical), Medicine(all), Dystonia, Niemann–Pick disease, type C, business.industry, Research, Infant, Niemann-Pick Disease, Type C, General Medicine, medicine.disease, Dysphagia, Italy, Child, Preschool, Female, medicine.symptom, business, medicine.drug

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8b6b5a5a0686a4ef6f20d2e69189e08
    http://hdl.handle.net/2318/1521415

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  2. 2
    The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat

    المؤلفون: Alfonso Romano, Simona Fecarotta, Michele Amitrano, Generoso Andria, Diana Bruschini, Luca Astarita, Roberto Della Casa, Giancarlo Parenti

    المساهمون: Fecarotta, Simona, Amitrano, M, Romano, Alfonso, DELLA CASA, Roberto, Bruschini, D, Astarita, Luca, Parenti, Giancarlo, Andria, Generoso

    مصطلحات موضوعية: Male, medicine.medical_specialty, 1-Deoxynojirimycin, Video Recording, Gastroenterology, Central nervous system disease, Swallowing, Internal medicine, Miglustat, otorhinolaryngologic diseases, Genetics, medicine, Humans, Substrate reduction therapy, Enzyme Inhibitors, Child, Genetics (clinical), Demography, Niemann–Pick disease, type C, Esophageal disease, business.industry, digestive, oral, and skin physiology, Infant, Niemann-Pick Disease, Type C, medicine.disease, Dysphagia, Deglutition, Endocrinology, Fluoroscopy, Female, medicine.symptom, Deglutition Disorders, business, Niemann–Pick disease, medicine.drug

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::105174c4121d95c9e7b09ed71d28e23a
    http://hdl.handle.net/11588/395185

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