يعرض 1 - 5 نتائج من 5 نتيجة بحث عن '"Guelbert NB"', وقت الاستعلام: 1.35s تنقيح النتائج
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    دورية 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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    دورية 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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    دورية 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

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    دورية 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

    SCR Disease Name: Hepatorenal form of glycogen storage disease