المؤلفون: Geberhiwot, Tarekegn, Giugliani, Roberto, Schuchman, Edward

مصطلحات موضوعية: ASMD, Acid sphingomyelinase deficiency, Diagnosis, Guidelines, Management, Niemann–Pick disease, Niemann–Pick disease-a,b,a/b, Mutação, Doença de Niemann-Pick tipo A, Doenças de Niemann-Pick, Esfingomielina fosfodiesterase

وصف الملف: application/pdf

العلاقة: Orphanet journal of rare diseases. [London]. Vol. 18 (Oct. 2023), 85, 28 p.; http://hdl.handle.net/10183/273751Test; 001198459

الإتاحة: http://hdl.handle.net/10183/273751Test

المؤلفون: Diaz, George A., Giugliani, Roberto, Guffon, Nathalie, Jones, Simon A., Mengel, Eugen, Scarpa, Maurizio, Witters, Peter, Yarramanen, Abhimanyu, Jing, Li, Armstrong, Nicole M., Yong, Kim, Renon, Catherine Ortemann, Kumar, Monica

مصطلحات موضوعية: Biomarcadores, Doenças de Niemann-Pick, Doenças por armazenamento dos lisossomos, Espectrometria de massas em Tandem, Acid sphingomyelinase defciency, Lysosphingomyelin, Tandem mass spectrometry, Biomarker, NiemannPick type a/b

وصف الملف: application/pdf

العلاقة: Orphanet journal of rare diseases. [London]. Vol. 17 (2022), 391, 23 p.; http://hdl.handle.net/10183/255541Test; 001160963

الإتاحة: http://hdl.handle.net/10183/255541Test

المؤلفون: Kubaski, Francyne, Burlina, Alberto, Trapp, Franciele Barbosa, Tirelli, Kristiane Michelin, Lopes, Franciele Fátima, Facchin, Ana Carolina Brusius, Netto, Alice Brinckmann Oliveira, Poletto, Édina, Giugliani, Roberto

مصطلحات موضوعية: Biomarcadores, Doenças de Niemann-Pick, Doenças por armazenamento dos lisossomos, Espectrometria de massas em Tandem, Acid sphingomyelinase defciency, Lysosphingomyelin, Tandem mass spectrometry, Biomarker, NiemannPick type a/b

وصف الملف: application/pdf

العلاقة: Orphanet journal of rare diseases. [London]. Vol. 17 (2022), 391, 23 p.; http://hdl.handle.net/10183/255488Test; 001160950

الإتاحة: http://hdl.handle.net/10183/255488Test

المؤلفون: Wasserstein, Melissa P., Giugliani, Roberto, Kumar, Monica

مصطلحات موضوعية: Diffusing capacity of the lung for carbon monoxide, Niemann-Pick type B, Niemann-Pick type A/B, Organomegaly, Recombinant human acid sphingomyelinase, Doenças de Niemann-Pick, Terapia de reposição de enzimas

وصف الملف: application/pdf

العلاقة: Genetics in medicine. New York. Vol. 24 (2021), p. 1425–1436.; http://hdl.handle.net/10183/245616Test; 001145570

الإتاحة: http://hdl.handle.net/10183/245616Test

المؤلفون: Diaz, George A., Jones, Simon A., Scarpa, Maurizio, Mengel, Karl Eugen, Giugliani, Roberto, Guffon, Nathalie, Batsu, Isabela, Fraser, Patricia A., Jing, Li, Qi, Zhang, Renon, Catherine Ortemann

مصطلحات موضوعية: Terapia de reposição de enzimas, Doenças de Niemann-Pick, Criança

وصف الملف: application/pdf

العلاقة: Genetics in medicine. New York. Vol. 23 (2021), p. 1543–1550.; http://hdl.handle.net/10183/234517Test; 001135853

الإتاحة: http://hdl.handle.net/10183/234517Test

المؤلفون: Jones, Simon A., McGovern, Margaret M., Lidove, Olivier, Giugliani, Roberto, Mistry, Pramod, Vici, Carlo Dionisi, Munõz Rojas, Maria Verônica, Nalysnyk, Lubomyra, Schecter, Alison D., Wasserstein, Melissa P.

مصطلحات موضوعية: Terapia de reposição de enzimas, Doenças de Niemann-Pick, Doenças por armazenamento dos lisossomos, Ensaios clínicos como assunto, Revisão, Acid sphingomyelin deficiency, Niemann-Pick Types A, /B, Lysosomal storage disorder, Disease burden

وصف الملف: application/pdf

العلاقة: Molecular genetics and metabolism. Amsterdam. Vol. 131, no. 1-2 (2020), p. 116-123; http://hdl.handle.net/10183/220890Test; 001121544

الإتاحة: http://hdl.handle.net/10183/220890Test

المؤلفون: Rocha, Sónia Graziela Ferreira Moreira da

مصطلحات موضوعية: Biologia molecular, Doenças de Niemann-Pick, Diagnóstico molecular

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10773/7979Test

المؤلفون: McGovern, Margaret M., Vici, Carlo Dionisi, Giugliani, Roberto, Hwu, Paul, Lidove, Olivier, Lukacs, Zoltan, Mengel, Karl Eugen, Mistry, Pramod, Schuchman, Edward, Wasserstein, Melissa P.

مصطلحات موضوعية: Acid sphingomyelin deficiency, Lysosomal storage disorder, Niemann-Pick disease types A and B, Guias de prática clínica como assunto, Doenças de Niemann-Pick

وصف الملف: application/pdf

العلاقة: Genetics in medicine. New York. vol. 19 (2017), p. 967-974; http://hdl.handle.net/10183/195931Test; 001090115

الإتاحة: http://hdl.handle.net/10183/195931Test

المؤلفون: Patricia A. Fraser, George A. Diaz, Roberto Giugliani, Karl Eugen Mengel, Simon Jones, Qi Zhang, Catherine Ortemann-Renon, Jing Li, Maurizio Scarpa, Isabela Batsu, Nathalie Guffon

المصدر: Genetics in Medicine
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Adolescent, Terapia de reposição de enzimas, Criança, 030105 genetics & heredity, Gastroenterology, Asymptomatic, Article, 03 medical and health sciences, DLCO, Internal medicine, Diffusing capacity, medicine, Humans, Enzyme Replacement Therapy, Adverse effect, Child, Doenças de Niemann-Pick, Genetics (clinical), Maintenance dose, business.industry, Infant, Enzyme replacement therapy, Niemann-Pick Disease, Type A, Rash, Recombinant Proteins, 030104 developmental biology, Sphingomyelin Phosphodiesterase, Liver, Child, Preschool, Vomiting, medicine.symptom, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bee312a86f79630fa9eb8254fde5f03Test
https://pubmed.ncbi.nlm.nih.gov/36205749Test

المؤلفون: Wajner, Alessandro, Michelin, Kristiane, Burin, Maira Graeff, Pereira, Maria Luiza Saraiva, Pires, Ricardo Flores, Giugliani, Roberto, Coelho, Janice Carneiro

المساهمون: Congresso de Pesquisa e Desenvolvimento em Saúde do Mercosul (11. : 2004 set. 13-17 : Porto Alegre), Hospital de Clínicas de Porto Alegre. Semana Científica. (24. : 2004 : Porto Alegre, RS)

مصطلحات موضوعية: Bioquímica, Doença de Gaucher, Doenças de Niemann-Pick

وصف الملف: application/pdf

العلاقة: Revista HCPA; http://hdl.handle.net/10183/1134Test; 000444436

الإتاحة: http://hdl.handle.net/10183/1134Test