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1
المؤلفون: Drelichman G, Fernández, Escobar N, Basack N, Aversa L, Kohan R, Watman N, Bolesina M, Elena G, Veber SE, Dragosky M, Annetta I, Feliu A, Sciuccati G, Cuello MF, Fynn A, Dodelson de Kremer R, Angaroni CJ, Giner-Ayala AN, Oller de Ramirez A, Guelbert NB, Delgado MA, Becerra A, Oliveri B, Larroudé MS, Masllorens FM, Szlago M, Schenone AB
المصدر: Repositorio Digital Universitario (UNC)
Universidad Nacional de Córdoba
instacron:UNCمصطلحات موضوعية: Enfermedad de Gaucher, Argentina, Enfermedad de depósito lisosomal
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3056::7d9edca45c5f72f737645efa569b0b1d
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2دورية أكاديمية
المؤلفون: Wasserstein MP; Children's Hospital at Montefiore and the Albert Einstein College of Medicine, 3411 Wayne Ave, 9th Floor, Bronx, NY, 10467, USA. melissa.wasserstein@einsteinmed.edu., Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Hollak C; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Barbato A; Department of Clinical Medicine and Surgery, University of Naples 'Federico II', Naples, Italy., Gallagher RC; Department of Pediatrics, The University of California San Francisco, San Francisco, CA, USA., Giugliani R; Postgraduate Program in Genetics and Molecular Biology, Med Genet Serv & DR Brasil, HCPA, INAGEMP, DASA, and Casa Dos Raros, UFRGS, Porto Alegre, Brazil., Guelbert NB; Reina Fabiola University Clinic, Córdoba, Argentina., Hennermann JB; Villa Metabolica, Center for Pediatric and Adolescent Medicine, University Medical Center, Mainz, Germany., Ikezoe T; Department of Hematology, Fukushima Medical University, Fukushima, Japan., Lidove O; Department of Internal Medicine, La Croix St Simon Hospital, Paris, France., Mabe P; Clinica Santa Maria, Santiago, Chile., Mengel E; Clinical Science for LSD, SpinCS, Hochheim, Germany., Scarpa M; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100, Udine, Italy., Senates E; Istanbul Medeniyet University, Istanbul, Turkey., Tchan M; Department of Genetic Medicine, Westmead Hospital, Sydney, Australia., Villarrubia J; Hematology Department, Hospital Universitario Ramón y Cajal, Madrid, Spain., Thurberg BL; Sanofi, Cambridge, MA, USA., Yarramaneni A; Sanofi, Bridgewater, NJ, USA., Armstrong NM; Sanofi, Cambridge, MA, USA., Kim Y; Sanofi, Paris, France., Kumar M; Sanofi, Bridgewater, NJ, USA.
المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Dec 02; Vol. 18 (1), pp. 378. Date of Electronic Publication: 2023 Dec 02.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
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3دورية أكاديمية
المؤلفون: Wasserstein M; Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY. Electronic address: mwassers@montefiore.org., Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom., Hollak C; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Arash-Kaps L; Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany; Clinical Science for LSD, SphinCS, Hochheim, Germany., Barbato A; Department of Clinical Medicine and Surgery, 'Federico II' University Hospital, Naples, Italy., Gallagher RC; Institute for Human Genetics, University of California San Francisco, San Francisco, CA., Giugliani R; Medical Genetics Service and DR BRASIL Research Group, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil; Department of Genetics, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Brazil; National Institute on Population Medical Genetics (INAGEMP), Porto Alegre, Brazil., Guelbert NB; Metabolic Disease Service Clinica Universitaria Reina Fabiola, Cordoba, Argentina., Ikezoe T; Department of Hematology, Fukushima Medical University, Fukushima, Japan., Lidove O; Service de Médecine Interne, Diaconesses Croix Saint-Simon Hospital, Paris, France., Mabe P; Servicio de Pediatría, Clínica Santa María, Santiago, Chile., Mengel E; Clinical Science for LSD, SphinCS, Hochheim, Germany., Scarpa M; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy., Senates E; Department of Gastroenterology, Istanbul Medeniyet University, Istanbul, Turkey., Tchan M; Department of Genetic Medicine, Westmead Hospital, Sydney, Australia., Villarrubia J; Hematology Department, Hospital Universitario Ramón y Cajal, Madrid, Spain., Chen Y; Clinical Development, Sanofi, Bridgewater, NJ., Furey S; Clinical Development, Sanofi, Bridgewater, NJ., Thurberg BL; Clinical Development, Sanofi, Bridgewater, NJ., Zaher A; Clinical Development, Sanofi, Bridgewater, NJ., Kumar M; Clinical Development, Sanofi, Bridgewater, NJ.
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jul; Vol. 24 (7), pp. 1425-1436. Date of Electronic Publication: 2022 Apr 26.
نوع المنشور: Clinical Trial, Phase II; Journal Article; Randomized Controlled Trial
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
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4دورية أكاديمية
المؤلفون: Politei JM; Fundación Para el Estudio de las Enfermedades Neurometabólicas, Buenos Aires, Argentina. Electronic address: jpolitei@hotmail.com., Gordillo-González G; Universidad Cooperativa de Colombia, Santa Marta, Colombia., Guelbert NB; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Hospital de Niños de Córdoba, Córdoba, Argentina., de Souza CFM; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil., Lourenço CM; Centro Universitário Estácio de Ribeirão Preto, Faculdade de Medicina, Centro Universitário Estácio, Ribeirão Preto, São Paulo, Brazil., Solano ML; Department of Neuropediatrics, Fundación Cardioinfantil, Instituto de Cardiología, Bogotá, Colombia., Junqueira MM; Medicine of Pain in America's Medical City, United Health Group, Rio de Janeiro, Rio de Janeiro, Brazil., Magalhães TSPC; Biomarin Pharmaceutical Inc, São Paulo, Brazil., Martins AM; Centro de Referência em Erros Inatos do Metabolismo (CREIM), Universidade Federal de São Paulo, São Paulo, Brazil.
المصدر: Journal of pain and symptom management [J Pain Symptom Manage] 2018 Jul; Vol. 56 (1), pp. 146-152. Date of Electronic Publication: 2018 Apr 10.
نوع المنشور: Consensus Development Conference; Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 8605836 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-6513 (Electronic) Linking ISSN: 08853924 NLM ISO Abbreviation: J Pain Symptom Manage Subsets: MEDLINE
مواضيع طبية MeSH: Pain Management*/methods , Pain Measurement*/methods, Mucopolysaccharidoses/*diagnosis , Mucopolysaccharidoses/*therapy , Pain/*diagnosis, Adolescent ; Child ; Child, Preschool ; Humans ; Latin America ; Young Adult
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5دورية أكاديمية
المؤلفون: Angaroni CJ; Centro de Estudio de las Metabolopatías Congénitas, CEMECO, Hospital de Niños de la Santísima Trinidad, Cátedra de Clínica Pediátrica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Córdoba, Argentina. celiangaroni@hotmail.com, Giner-Ayala AN, Hill LP, Guelbert NB, Paschini-Capra AE, Dodelson de Kremer R
المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2010 Oct; Vol. 33 (Suppl 2), pp. S289-94. Date of Electronic Publication: 2010 Jun 08.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
مواضيع طبية MeSH: Biotinidase/*blood , Glycogen Storage Disease/*enzymology , Liver/*enzymology, Argentina ; Biomarkers/blood ; Biotinidase/genetics ; Case-Control Studies ; DNA Mutational Analysis ; Genotype ; Glycogen Storage Disease/blood ; Glycogen Storage Disease/diagnosis ; Glycogen Storage Disease/genetics ; Glycogen Storage Disease Type I/enzymology ; Glycogen Storage Disease Type III/enzymology ; Humans ; Mutation ; Phenotype ; Up-Regulation
SCR Disease Name: Hepatorenal form of glycogen storage disease