المؤلفون: Roberto Giugliani, Anneliese Lopes Barth, Melissa Rossi Calvão Dumas, José Francisco da Silva Franco, Liane de Rosso Giuliani, Carlos Henrique Paiva Grangeiro, Dafne Dain Gandelman Horovitz, Chong Ae Kim, Emilia Katiane Embiruçu de Araújo Leão, Paula Frassinetti Vasconcelos de Medeiros, Diego Santana Chaves Geraldo Miguel, Maria Espírito Santo Almeida Moreira, Helena Maria Guimarães Pimentel dos Santos, Luiz Carlos Santana da Silva, Luiz Roberto da Silva, Isabel Neves de Souza, Tatiele Nalin, Daniel Garcia

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Mucopolysaccharidosis type VII, Sly disease, Lysosomal storage disorder, Glycosaminoglycans, Beta-glucuronidase deficiency, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/fe807eda91c44bb690419f9711fa3e6f

المؤلفون: Arnav Agarwal, Chong Ae Kim, Diogo Soares, José Francisco da Silva Franco, Lilian Maria José Albano, Noala Vicensoto Moreira Milhan, Regina El Dib

المصدر: Intractable & Rare Diseases Research. 2017, 6(3):183

المؤلفون: José Francisco da Silva Franco

Thesis Advisors: Chong Ae Kim, Erasmo Barbante Casella, Ana Beatriz Alvarez Perez

المصدر: Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.

مصطلحات موضوعية: Evolução clínica, Glicosaminoglicanas, Mucopolissacaridoses, Seguimentos, Terapia de reposição de enzimas, Clinical evolution, Enzyme replacement therapy, Follow-up studies, Glycosaminoglycans, Mucopolysaccharidosis

الاتاحة: http://www.teses.usp.br/teses/disponiveis/5/5141/tde-24032016-142203/

المؤلفون: Jaime López-Valdez, Deborah Marsden, José Francisco da Silva Franco, Chester B. Whitley, Agnieszka Jurecka, Raymond Y. Wang, Tricia Cimms, Lin Zhang, Esmeralda Martins, Vernon R. Sutton, Paul Harmatz

المصدر: Molecular Genetics and Metabolism. 129:219-227

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Urinary system, Mucopolysaccharidosis, Population, Mucopolysaccharidosis VII, MPS VII, 030105 genetics & heredity, Biochemistry, Pulmonary function testing, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Endocrinology, Internal medicine, Genetics, medicine, Humans, Enzyme Replacement Therapy, Child, Adverse effect, education, Molecular Biology, Glucuronidase, Glycosaminoglycans, education.field_of_study, Cross-Over Studies, business.industry, Enzyme replacement therapy, medicine.disease, Antibodies, Neutralizing, Crossover study, Treatment, Treatment Outcome, Blood-Brain Barrier, Sly syndrome, Female, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::626aecd03a8f13445a61354db82d8ce8
https://doi.org/10.1016/j.ymgme.2020.01.003

المؤلفون: Liane de Rosso Giuliani, Maria Espírito Santo Almeida Moreira, Luiz Roberto da Silva, Isabel Cristina Neves de Souza, Tatiéle Nalin, Chong Ae Kim, Melissa Rossi Calvão Dumas, Diego Santana Chaves Geraldo Miguel, Paula Frassinetti Vasconcelos de Medeiros, Carlos Henrique Paiva Grangeiro, Luiz Carlos Santana da Silva, Roberto Giugliani, Anneliese Lopes Barth, Dafne Dain Gandelman Horovitz, Daniel M. Garcia, José Francisco da Silva Franco, Emília Katiane Embiruçu de Araújo Leão, Helena Maria Guimarães Pimentel dos Santos

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Lysosomal storage disorder, Mucopolysaccharidosis, Sly syndrome, Mucopolysaccharidosis VII, Compound heterozygosity, Beta-glucuronidase deficiency, Hydrops fetalis, Epidemiology, Medicine, Humans, Pharmacology (medical), Mucopolysaccharidosis type VII, Genetics (clinical), Retrospective Studies, Glycosaminoglycans, business.industry, Research, Sly disease, General Medicine, medicine.disease, Natural history, Cohort, Mutation, business, Brazil

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d39e7632bd351eea7034c784b883d49d
https://pubmed.ncbi.nlm.nih.gov/34022924

المؤلفون: Bethania F.R. Ribeiro, Dafne Dain Gandelman Horovitz, Ana Cecília Menezes de Siqueira, Renata C.F. Bonatti, José Francisco da Silva Franco, Erlane Marques Ribeiro, Charles Marques Lourenço, Alexandra Gonçalves, Angelina Xavier Acosta, Ane S.S. Pereira, Liane de Rosso Giuliani, Joao I. C. F. Neri, Chong Ae Kim, Leniza C.L. Lichtvan, Anneliese Lopes Barth, Emília Katiane Embiruçu de Araújo Leão, Marcelo Kerstenetzky, Ana Maria Martins, Thaís B. Teixeira, Maria do Carmo S. Rodrigues, Francisca C. Santos

المصدر: Molecular genetics and metabolism. 133(1)

مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, N-Acetylgalactosamine-4-Sulfatase, Endocrinology, Diabetes and Metabolism, Urinary system, Mucopolysaccharidosis type VI, 030105 genetics & heredity, Biochemistry, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Cognition, Quality of life, Internal medicine, Genetics, medicine, Humans, Enzyme Replacement Therapy, Child, Molecular Biology, Glycosaminoglycans, Mucopolysaccharidosis VI, business.industry, Mortality rate, nutritional and metabolic diseases, Sleep apnea, Enzyme replacement therapy, medicine.disease, Recombinant Proteins, Maroteaux–Lamy syndrome, Phenotype, Child, Preschool, Quality of Life, Female, business, 030217 neurology & neurosurgery, Progressive disease, Brazil

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe565b09ab8026747e88a4cb4c37d2a9
https://pubmed.ncbi.nlm.nih.gov/33678523

المؤلفون: Débora Romeo Bertola, Bernd Wollnik, Shehla Mohammed, Marco Tartaglia, Raoul C.M. Hennekam, José Francisco da Silva Franco, Stefano Paolacci

المساهمون: APH - Quality of Care, Paediatric Genetics

المصدر: American journal of medical genetics. Part A, 173(7), 1763-1772. Wiley-Liss Inc.

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Ataxia, business.industry, Generalized lipodystrophy, 030105 genetics & heredity, medicine.disease, Dermatology, Phenotype, 3. Good health, 03 medical and health sciences, Hypodontia, 0302 clinical medicine, Endocrinology, Internal medicine, Genetics, medicine, Wiedemann-Rautenstrauch syndrome, Sparse hair, Lipodystrophy, medicine.symptom, business, 030217 neurology & neurosurgery, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfb40b78548a3cdae68c1950b7b84da6
https://doi.org/10.1002/ajmg.a.38246

المؤلفون: Fernanda Hendges de Bitencourt, Fernanda da Silva Medeiros, Fernanda Bender, Maira Graeff Burin, Antoine Daher, José Francisco Da Silva Franco, Francyne Kubaski, Kristiane Michelin Tirelli, Heydy Bravo, Gabriel Civallero, Roberto Giugliani, Vanessa Carnier

المصدر: Genetics and Molecular Biology
Genetics and Molecular Biology v.43 n.2 2020
Sociedade Brasileira de Genética (SBG)
instacron:SBG

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, medicine.medical_specialty, Newborn screening, newborn screening, Urinary system, Mucopolysaccharidosis, enzymes, Lysosomal storage disorders, Signs and symptoms, Inborn errors of metabolism, QH426-470, Biology, medicine.disease, 01 natural sciences, 03 medical and health sciences, 030104 developmental biology, Internal medicine, Human and Medical Genetics, Genetics, medicine, Molecular Biology, 010606 plant biology & botany

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07eac2e35f2d13026a75ed93d3993233
https://doi.org/10.1590/1678-4685-gmb-2018-0334

المؤلفون: Raymond Y. Wang, José Francisco da Silva Franco, Agnieszka Jurecka, Vernon R. Sutton, Paul Harmatz, Lin Zhang, Esmeralda Martins, Chester B. Whitley, Jaime López-Valdez, Tricia Cimms, Deborah Marsden

المصدر: Molecular Genetics and Metabolism. 131:285

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Vestronidase alfa, Mucopolysaccharidosis VII, Enzyme replacement therapy, Biochemistry, Gastroenterology, Endocrinology, Internal medicine, Genetics, medicine, Long term safety, business, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::591724db902d7aa63546ccceabdf460f
https://doi.org/10.1016/j.ymgme.2020.08.001

المؤلفون: Raymond Y. Wang, José Francisco da Silva Franco, Jaime López-Valdez, Esmeralda Martins, Vernon R. Sutton, Chester B. Whitley, Lin Zhang, Tricia Cimms, Deborah Marsden, Agnieszka Jurecka, Paul Harmatz

المصدر: Molecular Genetics and Metabolism. 129:S158-S159

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::df44fb3610d6948946b5142339f1b27b
https://doi.org/10.1016/j.ymgme.2019.11.422

المؤلفون: James Y. Garbern, José Francisco da Silva Franco, Gen Nishimura, Melanie A. Knight, Débora Romeo Bertola, Asako Takanohashi, Raphael Schiffmann, Chong Ae Kim, Maria Rita Passos-Bueno, Rachel Sayuri Honjo, Kinya Ishikawa, Pelin Ozlem Simsek-Kiper, Margaret Timmons, Yuko Segawa, Hirofumi Ohashi, Kenneth H. Fischbeck, Cas Simons, Takanori Yokota, Long Guo, Alan Boyde, Carlos Ferreira, Noriko Miyake, Shiro Ikegawa, Zheng Wang, J. Spranger, Guilherme L. Yamamoto, Adeline Vanderver, Asuka Saito, Yoichiro Nishida, Naomichi Matsumoto, Andrew B. Singleton, Camila Manso Musso, Ryan J. Taft, Bryan R. Lajoie, Amy Pizzino, Pamela Gehron Robey, Li Yan, Satoru Ishibashi

المصدر: American journal of human genetics. 104(5)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Lineage (genetic), Adolescent, Biology, Compound heterozygosity, medicine.disease_cause, Osteochondrodysplasias, Leukoencephalopathy, Colony stimulating factor 1 receptor, 03 medical and health sciences, Mice, Young Adult, 0302 clinical medicine, Leukoencephalopathies, Report, Genetics, medicine, Animals, Humans, Genetics (clinical), Alleles, Mice, Knockout, Mutation, Brain, medicine.disease, Metaphyseal dysplasia, 030104 developmental biology, Phenotype, Dysplasia, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, Child, Preschool, Hereditary diffuse leukoencephalopathy with spheroids, Female, 030217 neurology & neurosurgery, Osteosclerosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::450e49e47570759d5d31a943887be4e7
https://pubmed.ncbi.nlm.nih.gov/30982609

المؤلفون: José Francisco da Silva Franco, Chong Ae Kim, Leuridan Cavalcante Torres, Diogo Cordeiro de Queiroz Soares, Leslie Domenici Kulikowski

المصدر: Clinical Immunology. 154:100-104

مصطلحات موضوعية: Adult, Male, Adolescent, Immunology, Mutation, Missense, Immunoglobulins, Iduronate Sulfatase, Biology, medicine.disease_cause, Gene Expression Regulation, Enzymologic, Autoimmunity, Young Adult, Immune system, Antigen, Lysosome, medicine, Humans, Immunology and Allergy, Child, Immunodeficiency, Mucopolysaccharidosis II, B-Lymphocytes, Mutation, medicine.disease, Killer Cells, Natural, medicine.anatomical_structure, Child, Preschool, Primary immunodeficiency, biology.protein, Antibody

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38e5fe0b4702c7f68fe39b35161a4f9e
https://doi.org/10.1016/j.clim.2014.07.001

المؤلفون: Caio Robledo D'Angioli Costa Quaio, Felippe Borlot, Débora Romeo Bertola, Israel Gomy, Charles Marques Lourenço, Chong Ae Kim, José Francisco da Silva Franco, Paula Ricci Arantes

المصدر: American Journal of Medical Genetics Part A. 164:1162-1169

مصطلحات موضوعية: Adult, Central Nervous System, Male, medicine.medical_specialty, Adolescent, Central nervous system, Neuroimaging, Physical examination, Basilar invagination, Mucopolysaccharidosis Type IVA, Young Adult, Spinal cord compression, Genetics, Lysosomal storage disease, medicine, Humans, Child, Genetics (clinical), medicine.diagnostic_test, business.industry, Odontoid Hypoplasia, Brain, Mucopolysaccharidosis IV, medicine.disease, Spinal cord, Magnetic Resonance Imaging, Cross-Sectional Studies, medicine.anatomical_structure, Spinal Cord, Child, Preschool, Female, Radiology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51d411a54c8335fe6cfaee07ba3ef58c
https://doi.org/10.1002/ajmg.a.36424

المؤلفون: V. Reid Sutton, Qais Abu Ali, Christine Haller, Amanda Chanda, José Francisco da Silva Franco, Esmeralda Martins, Jaime López-Valdez, Chester B. Whitley, Wenjie Song, Raymond Y. Wang, Paul Harmatz

المصدر: Molecular Genetics and Metabolism. 123:S144-S145

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Vestronidase alfa, Enzyme replacement therapy, Biochemistry, Gastroenterology, 03 medical and health sciences, 030104 developmental biology, Endocrinology, Internal medicine, Genetics, medicine, In patient, business, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7598dd4f2218e33a174e00f6fe7bee4c
https://doi.org/10.1016/j.ymgme.2017.12.400

المؤلفون: Fatih Süheyl Ezgü, Kaustuv Bhattacharya, Raymond Y. Wang, Roberto Giugliani, Max Holtz, Brett H. Graham, Mahmut Çoker, Rena E. Falk, José Francisco da Silva Franco, Robert D. Steiner, Alfons Macaya, Robert M. Greenstein, William S. Sly, Grant A. Mitchell, Ngu Lock-Hock, Gregory M. Pastores, Mercedes Pineda, Loreta Cimbalistiene, Laila Arash, Klane K. White, Antonio González-Meneses, Anastasia K. Ketko, Michael Beck, Marina Szlago, Adriana M. Montaño, Dennis Bartholomew, Akemi Tanaka, Mark S. Sands

المساهمون: Ege Üniversitesi

المصدر: JOURNAL OF MEDICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of medical genetics, London : BMJ Publishing group, 2016, vol. 53, iss. 6, p. 403-418
Journal of medical genetics, vol 53, iss 6
Journal of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Mucopolysaccharidosis, Sly syndrome, Hepatosplenomegaly, Metabolic disorders, Mucopolysaccharidosis VII, Medical and Health Sciences, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Hydrops fetalis, Surveys and Questionnaires, medicine, Genetics, Humans, Medical history, Clinical genetics, Family history, Preschool, Child, Genetics (clinical), Glucuronidase, Genetics & Heredity, business.industry, Genotype-Phenotype Correlations, Infant, Enzyme replacement therapy, Biological Sciences, medicine.disease, Lysosomal Storage Diseases, 030104 developmental biology, Phenotype, Clinical genetics, Genetics, Metabolic disorders, Child, Preschool, Female, medicine.symptom, business, 030217 neurology & neurosurgery, MPS, lysosomal storage disease, β-glucuronidase

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0b94c3aaa5f62e908319f0f9188207a
https://hdl.handle.net/10668/9860

المؤلفون: José Francisco da Silva Franco

المساهمون: Chong Ae Kim, Erasmo Barbante Casella, Ana Beatriz Alvarez Perez

المصدر: Biblioteca Digital de Teses e Dissertações da USP
Universidade de São Paulo (USP)
instacron:USP

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34d0f6a998b85d1fb202f2c99c31f968

المؤلفون: Cunha Mt, Diogo Cordeiro de Queiroz Soares, Gabriela Nunes Leal, C A Kim, Rachel Sayuri Honjo, Débora Romeo Bertola, José Francisco da Silva Franco, L. C. Torres

المصدر: Genetics and Molecular Research. 15

مصطلحات موضوعية: 0301 basic medicine, Arylsulfatase B, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Long term follow up, Mucopolysaccharidosis type VI, Disease, 03 medical and health sciences, Compressive myelopathy, Genetics, medicine, Humans, Enzyme Replacement Therapy, Child, Molecular Biology, Mucopolysaccharidosis VI, business.industry, Siblings, Infant, nutritional and metabolic diseases, Apnea, General Medicine, Enzyme replacement therapy, Treatment Outcome, 030104 developmental biology, Female, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d42a0f3130b78780fa821b34b1b778ce
https://doi.org/10.4238/gmr.15017850

المؤلفون: Paula Ricci Arantes, Felippe Borlot, Charles Marques Lourenço, José Francisco da Silva Franco, Caio Robledo D'Angioli Costa Quaio, Chong Ae Kim, Débora Romeo Bertola

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, N-Acetylgalactosamine-4-Sulfatase, Mucopolysaccharidosis, Mucopolysaccharidosis type VI, Neurological examination, Developmental Neuroscience, Spinal cord compression, medicine, Humans, Enzyme Replacement Therapy, Child, Neurologic Examination, Mucopolysaccharidosis VI, medicine.diagnostic_test, business.industry, Brain, Cervical spinal stenosis, Magnetic resonance imaging, General Medicine, medicine.disease, Spinal cord, Magnetic Resonance Imaging, Surgery, Cross-Sectional Studies, medicine.anatomical_structure, Spinal Cord, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business, IMAGEM POR RESSONÂNCIA MAGNÉTICA, Vertebral column

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8db40240389b47b862de1eec142cb6e

المؤلفون: Carolina Sanchez Aranda, Luis Felipe Ensina, Alex Eustáquio de Lacerda, Ana Maria Martins, Tatiana de Sá Pacheco C. Magalhães, José Francisco da Silva Franco

المصدر: Molecular Genetics and Metabolism. 117:S21-S22

مصطلحات موضوعية: business.industry, Endocrinology, Diabetes and Metabolism, LARONIDASE, medicine.medical_treatment, medicine.disease, Biochemistry, Endocrinology, Anesthesia, Mucopolysaccharidosis I, Genetics, medicine, Scheie syndrome, business, Molecular Biology, Desensitization (medicine)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::899e569b23cda1507f31efe3db13b32d
https://doi.org/10.1016/j.ymgme.2015.12.181

المؤلفون: Gabriela Lima Espinosa, José Francisco da Silva Franco, Fabiola Esgrignoli Garcia

المصدر: Molecular Genetics and Metabolism. 117:S47

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Biochemistry, Short stature, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Genetics, Etiology, Medicine, In patient, 030212 general & internal medicine, medicine.symptom, business, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a8e576114f349ea71ce297befb8e83d8
https://doi.org/10.1016/j.ymgme.2015.12.259