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1دورية أكاديمية
المؤلفون: Oliveira Netto, Alice Brinckmann1, Rojas Málaga, Diana2, Kubaski, Francyne3,4, Carolina Brusius-Facchin, Ana2,4 afacchin@hcpa.edu.br, Giugliani, Roberto2,3,4
المصدر: Clinical & Biomedical Research. 2022, Vol. 42 Issue 3, p218-225. 8p.
مصطلحات موضوعية: *LYSOSOMAL storage diseases, *GENETIC testing, *NEWBORN screening, *POLYMERASE chain reaction, *NUCLEOTIDE sequencing
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2
المؤلفون: Correia, Maria I., Duarte, Ana J., Ribeiro, Diogo, Amaral, Olga
المساهمون: Repositório Científico do Instituto Nacional de Saúde
مصطلحات موضوعية: Lysosomal Storage Diseases, Cell Cultures, Human Genetics, Doenças Genéticas
وصف الملف: image/jpeg
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3دورية أكاديمية
المؤلفون: Leistner, Sandra, L. S. Pereira, Maria, A. Fachel, Ângela, C. Burlamaque-Neto, Antônio, Streit, Carla, Morari, Liana, C. Lima, Luciane, C. S. da Silva, Luiz, G. Petry, Márcia, S. Carvalho, Tiago, Matte, Úrsula
المصدر: Clinical & Biomedical Research; Vol. 21 No. 3 (2001): Revista HCPA ; Clinical and Biomedical Research; v. 21 n. 3 (2001): Revista HCPA ; 2357-9730
مصطلحات موضوعية: Doenças genéticas, doenças lisossômicas de depósito, análise molecular, PCR, Genetic diseases, lysosomal storage diseases, molecular analysis
وصف الملف: application/pdf
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4دورية أكاديمية
المؤلفون: Amaral, Andreza da Silva, Sales, Nathali Adrielli Agassi de, Rosado, Isabel Rodrigues, Giugliani, Roberto, Burin, Maira Graeff, Baldo, Guilherme, Martin, Ian, Alves, Endrigo Gabellini Leonel
مصطلحات موضوعية: Doenças por armazenamento dos lisossomos, Mucopolissacaridose I, Glicosaminoglicanos, Cães, Lysosomal storage diseases, Mucopolysaccharidosis, Glycosaminoglycans, Multiple dysostosis, Alpha-L-iduronidase
وصف الملف: application/pdf
العلاقة: Acta scientiae veterinariae. Porto Alegre. Vol. 49, supl. 1 (2021), 637, p. 1-7.; http://hdl.handle.net/10183/234523Test; 001135868
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5دورية أكاديمية
المؤلفون: Patricia Moraes Resende de Jesus, Ana Maria Martins, Nilton Di Chiacchio, Carolina Sanchez Aranda
المصدر: Anais Brasileiros de Dermatologia, Vol 93, Iss 3, Pp 426-428 (2018)
مصطلحات موضوعية: Angiokeratoma, Fabry disease, Lysosomal storage diseases, Dermatology, RL1-803
وصف الملف: electronic resource
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962018000300426&tlng=enTest; http://www.scielo.br/pdf/abd/v93n3/0365-0596-abd-93-03-0426.pdfTest; https://doaj.org/toc/0365-0596Test
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6دورية أكاديمية
العنوان البديل: MUCOPOLYSACCHARIDOSIS IV: AN INTEGRATING REVIEW OF THE MAIN CLINICAL MANIFESTATIONS. (English)
المؤلفون: Yumi Akashi, Natália, Gonini Azenha, Larissa Oberlaender, Silva Vieira, Mônica Cristina, Chaves de Oliveira, Thainá, Aparecida Buriola, Aline
المصدر: Colloquium Vitae; mai-ago2019, Vol. 11 Issue 2, p22-27, 6p
مصطلحات موضوعية: ENZYME deficiency, SCIENTIFIC knowledge, LYSOSOMAL storage diseases, LITERATURE reviews, MUCOPOLYSACCHARIDOSIS
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7
المؤلفون: Leistner, Sandra, L. S. Pereira, Maria, A. Fachel, Ângela, C. Burlamaque-Neto, Antônio, Streit, Carla, Morari, Liana, C. Lima, Luciane, C. S. da Silva, Luiz, G. Petry, Márcia, S. Carvalho, Tiago, Matte, Úrsula
المصدر: Clinical & Biomedical Research; Vol. 21 No. 3 (2001): Revista HCPA
Clinical and Biomedical Research; v. 21 n. 3 (2001): Revista HCPA
Clinical and Biomedical Research
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGSمصطلحات موضوعية: PCR, doenças lisossômicas de depósito, molecular analysis, Doenças genéticas, análise molecular, lysosomal storage diseases, Genetic diseases
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d91c6d3c3188ea8e6070d26a812b64c8Test
https://seer.ufrgs.br/index.php/hcpa/article/view/126037Test -
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المؤلفون: Ribeiro, Diogo Alexandre do Nascimento
المساهمون: Amaral, Olga A.M. Oliveira, Maciel, Patrícia Espinheira de Sá, Repositório Científico do Instituto Nacional de Saúde
مصطلحات موضوعية: Doenças Lisossomais de Sobrecarga, Doenças Genéticas, Genética Humana, IDUA, MPS 1, Portugal, Lysosomal Storage Diseases
وصف الملف: application/pdf
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9
المؤلفون: Dornelles, Alícia Dorneles
المساهمون: Schwartz, Ida Vanessa Doederlein, Oliveira Junior, Haliton Alves de
المصدر: Biblioteca Digital de Teses e Dissertações da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGSمصطلحات موضوعية: Terapia de reposição enzimática, Metanálise, Meta-analysis, Revisão sistemática, Erros inatos do metabolismo, Enzyme replacement therapy, Lysosomal storage diseases, Systematic review, Pompe disease, Doença de depósito de glicogênio tipo II, Inborn errors of metabolism, Glycogen storage disease type II
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3056::309efed4644f982179e2b0843ccc1ae7Test
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المؤلفون: Irene Kazue Miura, Natalia Canale Person, Fabiana Roberto Lima, Vera B. Danesi, Gabriel Nuncio Benevides, Renata Pugliese, Gilda Porta
المصدر: Jornal de Pediatria (Versão em Português), Vol 95, Iss 5, Pp 552-558 (2019)
Jornal de Pediatria, Vol 95, Iss 5, Pp 552-558 (2019)
Jornal de Pediatria v.95 n.5 2019
Jornal de Pediatria
Sociedade Brasileira de Pediatria (SBP)
instacron:SBPEمصطلحات موضوعية: Male, medicine.medical_specialty, Abdominal pain, Biopsy, Rickets, Disease, Lysosomal acid lipase deficiency, Pediatrics, Asymptomatic, Gastroenterology, Medical Records, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Internal medicine, Lysosomal storage diseases, Genotype, medicine, Humans, Aspartate Aminotransferases, 030212 general & internal medicine, Child, Triglycerides, Dyslipidemias, Retrospective Studies, business.industry, Wolman Disease, Liver failure, lcsh:RJ1-570, Alanine Transaminase, Metabolic diseases, lcsh:Pediatrics, gamma-Glutamyltransferase, Alkaline Phosphatase, medicine.disease, Cholesterol, Liver, Joint pain, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Brazil, Dyslipidemia, Hepatomegaly
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::499116ab094884987b5546517e73b0d7Test
http://www.sciencedirect.com/science/article/pii/S2255553618301605Test
النص الكامل