Roberto Giugliani

Dados pessoais Membro

Lattes
Grupos de Pesquisa
Genealogia Acadêmica

Nacionalidade: Brasileira
Grande área de atuação: Ciências Biológicas
Área de atuação: Genética

Publicações

Total: 1765

Área temática ASJC

Percentual das publicações classificadas

HS Ciências da Saúde
LS Ciências da Vida
MU Multidisciplinar
PS Ciências Físicas
SH Ciências Sociais e Humanidades

Categoria ASJC

Categorias ASJC mais frequentes

Nome	Vínculo	Grande área de atuação	Área de atuação
Nome	Vínculo	Grande área de atuação	Área de atuação
Alicia Matijasevich MANITTO		Ciências da Saúde	Saúde Coletiva
Ana Maria Marques Da SILVA		Ciências Exatas e da Terra	Física
Bernardo Lessa HORTA		Ciências da Saúde	Medicina
Bruno Duarte GOMES	Membro	Ciências Biológicas	Fisiologia
Carlos Alberto Saraiva GONÇALVES	Membro	Ciências Biológicas	Bioquímica
Carlos Alexandre NETTO	Membro	Ciências Biológicas	Bioquímica
Carmen Lucia Bezerra MACHADO		Ciências Humanas	Educação
Chong Ae KIM		Ciências da Saúde	Medicina
Christian Costa KIELING		Ciências da Saúde	Medicina
Dafne Dain Gandelman HOROVITZ		Ciências da Saúde	Medicina
Decio BRUNONI		Ciências Biológicas	Genética
Diogo Onofre Gomes De SOUZA		Ciências Biológicas	Bioquímica
Jaderson Costa Da COSTA	Membro	Ciências da Saúde	Medicina
Jair Licio Ferreira SANTOS		Ciências Sociais Aplicadas	Demografia
Juan Clinton Llerena JUNIOR		Ciências da Saúde	Medicina
Luciana Neves NUNES		Ciências Humanas	Educação
Maria Raquel Santos CARVALHO		Ciências Biológicas	Genética
Paulo Ricardo Gazzola ZEN		Ciências da Saúde	Medicina
Vânia D ALMEIDA	Membro	Ciências Biológicas	Bioquímica
Vera Maria Treis TRINDADE		Ciências Biológicas	Bioquímica

Figura 1

Número de publicações por ano e por tipo

Todas as publicações do perfil

Figura 2

Categorias ASJC mais frequentes por ano

A cor dos pontos identifica a categoria predominante

Figura 3

Mapa de calor das categorias ASJC por ano

Frequências absolutas; cores mais escuras indicam mais publicações. Todas as categorias ASJC e anos disponíveis, sem aplicar os filtros da página.

Escala: 0 → 45

Mapa de calor das categorias ASJC por ano
Categoria ASJC	1980	1981	1982	1983	1984	1985	1986	1987	1988	1989	1990	1991	1992	1993	1994	1995	1996	1997	1998	1999	2000	2001	2002	2003	2004	2005	2006	2007	2008	2009	2010	2011	2012	2013	2014	2015	2016	2017	2018	2019	2020	2021	2022	2023	2024	2025	2026
2716 · Genetics (clinical)	1	1	1	1	0	1	4	1	0	1	1	1	6	4	1	6	6	4	7	23	12	19	11	42	37	35	45	39	33	16	4	8	6	14	9	7	5	9	4	7	7	14	6	7	4	7	1
1311 · Genetics	0	1	0	0	1	2	2	0	0	2	5	2	0	1	2	2	5	8	10	22	13	13	25	28	22	37	16	18	22	12	6	4	1	5	6	6	3	3	6	7	4	4	6	2	2	2	0
2701 · Medicine (miscellaneous)	0	0	0	1	1	1	3	1	2	0	1	0	1	3	3	1	2	5	7	14	10	14	26	23	25	35	17	32	33	8	1	5	8	5	4	6	3	8	5	2	4	5	5	0	1	1	1
1301 · Biochemistry; Genetics and Molecular Biology (miscellaneous)	0	0	0	0	1	0	0	1	0	3	1	1	0	0	0	2	1	0	3	9	2	7	3	12	9	14	8	20	3	4	0	2	5	1	8	6	6	5	6	3	3	4	4	2	0	0	0
2735 · Pediatrics; Perinatology and Child Health	0	0	0	0	0	0	0	0	0	0	1	2	2	0	1	3	1	3	1	1	2	3	0	0	2	5	4	6	2	2	2	2	3	0	2	1	0	2	1	0	1	0	2	0	1	1	0
2712 · Endocrinology; Diabetes and Metabolism	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	0	1	0	3	8	0	1	5	5	4	5	1	0	0	0	0	1	0	0	1	0	0	1	0	0	0	2	2	1
2728 · Neurology (clinical)	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	1	1	0	1	3	1	0	0	4	3	1	1	1	0	0	3	0	0	2	1	2	0	0	0	1	0	1	0	1	0
1308 · Clinical Biochemistry	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	1	1	0	0	1	5	2	2	1	2	1	1	0	1	2	0	1	3	0	0	0	0	1	0	0	0	0
1312 · Molecular Biology	0	0	0	0	0	0	0	0	0	0	0	0	2	0	0	0	0	1	1	0	3	0	0	0	0	0	1	2	0	1	1	1	4	0	3	0	0	2	1	0	1	1	0	2	0	0	1
2700 · General Medicine	0	0	0	1	0	0	0	0	1	0	2	0	0	0	0	0	0	0	0	0	2	0	1	0	1	1	0	0	1	0	0	0	1	0	0	2	1	0	1	1	0	1	0	1	0	0	0
2736 · Pharmacology (medical)	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	2	0	2	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	1	0	1	2	0
1303 · Biochemistry	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	2	0	1	1	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	2	0
2808 · Neurology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	1	2	0	2	2	1	0	0	0	0	0	0	0	0	0	0	2	0	1	0	0	0	0	0	0
2713 · Epidemiology	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	2	0	0	2	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	1	1
2704 · Biochemistry (medical)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	2	1	3	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1
2739 · Public Health; Environmental and Occupational Health	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	1	1	0	1	0	0	1	0	0	0	2	1	1	0
2741 · Radiology; Nuclear Medicine and Imaging	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	3	1	1	1	0	0	0	0	0	0	0	1	0	1	0	0	1	1	0	0	0	0	0
2724 · Internal Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	2	2
2730 · Oncology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	2	0	4	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0
3201 · Psychology (miscellaneous)	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	1	0	0	0	0	1	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1306 · Cancer Research	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	0	0	2	0	0	0	4	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1307 · Cell Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	3	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0
2801 · Neuroscience (miscellaneous)	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	3	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0
2705 · Cardiology and Cardiovascular Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1
1402 · Accounting	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	2	0	0	0	0	0	0	0	0	0	0	2	0	0
2725 · Infectious Diseases	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	3	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1309 · Developmental Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2710 · Embryology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	1	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2729 · Obstetrics and Gynecology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2748 · Urology	2	2	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1305 · Biotechnology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	2	1
1314 · Physiology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0
2719 · Health Policy	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0
2919 · Pediatrics	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0
3001 · Pharmacology; Toxicology and Pharmaceutics (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	1	1	0	0	0	0	0	0	0	0	0
3004 · Pharmacology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	2	0	0	0	0	0	0	0	0	0	0	0	0	0
1103 · Animal Science and Zoology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1313 · Molecular Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0
2401 · Immunology and Microbiology (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0
2723 · Immunology and Allergy	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0
3501 · Dentistry (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0
1300 · General Biochemistry; Genetics and Molecular Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0
1310 · Endocrinology	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2708 · Dermatology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2738 · Psychiatry and Mental Health	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2740 · Pulmonary and Respiratory Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2743 · Reproductive Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2916 · Nutrition and Dietetics	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0
3003 · Pharmaceutical Science	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	0	0
3301 · Social Sciences (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	0
1000 · Multidisciplinary	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1202 · History	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0
1207 · History and Philosophy of Science	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0
2301 · Environmental Science (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2404 · Microbiology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2406 · Virology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2717 · Geriatrics and Gerontology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0
2718 · Health Informatics	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2727 · Nephrology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2731 · Ophthalmology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2732 · Orthopedics and Sports Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0
2734 · Pathology and Forensic Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2737 · Physiology (medical)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2744 · Reviews and References (medical)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2802 · Behavioral Neuroscience	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2901 · Nursing (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2913 · Maternity and Midwifery	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3005 · Toxicology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3204 · Developmental and Educational Psychology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0
3304 · Education	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3601 · Health Professions (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0

Ano	Tipo	Registro	Área temática e categoria ASJC
	Tipo de Publicação	Registro	Área temática e categoria ASJC
2012	Artigo em periódico	Breast cancer risk estimates; body mass index and breast density in women submitted to mammographic screening in an underserved population Belo Reyes VANESSA; Giacomazzi J; Aishameriane Venes SCHMIDT; Aishameriane Venes SCHMIDT; Patricia Santos SILVA et al Cadernos Saúde Coletiva (UFRJ) ISSN 1414-462X	LS Cancer Research
2012	Artigo em periódico	Recombinant Encapsulated Cells Overexpressing Alpha-L</i>-Iduronidase Correct Enzyme Deficiency in Human Mucopolysaccharidosis Type I Cells Guilherme BALDO; Quoos Mayer FABIANA; Maira BURIN; Carrillo Farga JOAQUÍN; Ursula Da Silveira MATTE et al Cells Tissues Organs (Print) DOI 10.1159/000327532 ISSN 1422-6405	LS Molecular Biology
2012	Artigo em periódico	Important aspects in the molecular diagnosis of mucopolysaccharidoses Brusius Facchin Ana CAROLINA; Kubaski FRANCYNE; Roberto GIUGLIANI; Sandra Leistner SEGAL; Sandra Leistner SEGAL Journal of Inherited Metabolic Disease (Dordrecht Online) DOI 10.1007/s10545-012-9557-z ISSN 1573-2665	HS Genetics (clinical)
2012	Artigo em periódico	Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI Azevedo Ana C M; Osvaldo ARTIGALÁS; Leonardo VEDOLIN; Komlós MÁRCIA; Adriana PIRES et al Journal of Inherited Metabolic Disease DOI 10.1007/s10545-012-9559-x ISSN 0141-8955	HS Neurology (clinical)
2011	Capítulo de livro	Non Viral Gene Transfer Approaches for Lysosomal Storage Disorders Ursula MATTE; Guilherme BALDO; Roberto GIUGLIANI Non-Viral Gene Therapy ISBN 9783075389	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2011	Capítulo de livro	Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II) Quaio C R D C; Grinberg H; Vieira M L C; Paula A C; Leal G N et al JIMD Reports DOI 10.1007/8904_2011_90 ISBN 9783642257513	HS Medicine (miscellaneous)
2011	Capítulo de livro	Utility of Rare Disease Registries in Latin America Ana Maria MARTINS; Kerstenezky MARCELO; Linares ADRIANA; Politei JUAN; Kohan REGINA et al JIMD Reports DOI 10.1007/8904_2011_25 ISBN 9783642177071	HS Medicine (miscellaneous)
2011	Artigo em periódico	Age-Dependent Availability and Functionality of Bone Marrow Stem Cells in an Experimental Model of Acute and Chronic Myocardial Infarction Ayala Lugo ANA; Tavares Angela M V; Paz Ana H R; Alegretti ANA; Miquelito LUDMILA et al Cell Transplantation DOI 10.3727/096368909X519283 ISSN 0963-6897	LS Molecular Biology
2011	Artigo em periódico	Population analysis of the GLB1 gene in South Brazil Cléia Rosani BAIOTTO; Fernanda SPERB; Ursula MATTE; C DORNELLES; R SANO et al Genetics and Molecular Biology (Impresso) ISSN 1415-4757	LS Genetics
2011	Artigo em periódico	Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data; X-inactivation analysis and imaging evaluations De Camargo Pinto Louise LAPAGESSE; Maluf Sharbel WEIDNER; Sandra Leistner SEGAL; Zimmer Da Silva CAMILA; Brusius Facchin ANA et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.33770 ISSN 1552-4825	HS Genetics (clinical)
2011	Artigo em periódico	Long-term; open-labeled extension study of idursulfase in the treatment of Hunter syndrome Muenzer JOSEPH; Beck MICHAEL; Eng Christine M; Roberto GIUGLIANI; Harmatz PAUL et al Genetics in Medicine DOI 10.1097/GIM.0b013e3181fea459 ISSN 1098-3600	HS Medicine (miscellaneous)
2011	Artigo em periódico	Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey Muenzer JOSEPH; Beck MICHAEL; Roberto GIUGLIANI; Suzuki YASUYUKI; Tylki Szymanska ANNA et al Genetics in Medicine DOI 10.1097/GIM.0b013e318206786f ISSN 1098-3600	HS Medicine (miscellaneous)
2011	Artigo em periódico	DNA damage in leukocytes from pretreatment mucopolysaccharidosis type II patients- protective effect of enzyme replacement therapy Filippon LETÍCIA; Wayhs Carlos A Y; Atik Diana M; Manfredini VANUSA; Herber SILVANI et al Mutation Research. Genetic Toxicology and Environmental Mutagenesis DOI 10.1016/j.mrgentox.2011.02.005 ISSN 1383-5718	HS Genetics (clinical)
2011	Artigo em periódico	Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density Giacomazzi J; Aguiar E; Palmero E I; Schmidt A V; Skonieski G et al brazilian journal of medical and biological research -on line DOI 10.1590/S0100-879X2011007500029 ISSN 1678-4510	HS Pediatrics; Perinatology and Child Health
2011	Artigo em periódico	Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy Filippon LETÍCIA; Vanzin Camila S; Biancini Giovana B; Pereira Izabela N; Manfredini VANUSA et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2011.02.016 ISSN 1096-7192	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2011	Artigo em periódico	Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI Baldo GUILHERME; Ursula MATTE; Artigalas OSVALDO; Ida Vanessa SCHWARTZ; Maira Graeff BURIN et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2011.03.002 ISSN 1096-7192	LS Genetics
2011	Artigo em periódico	Recent Advances in Treatment Approaches of Mucopolysaccharidosis VI Roberto GIUGLIANI; Carvalho Clarissa G; Silvani HERBER; De Camargo Pinto Louise LAPAGESSE Current Pharmaceutical Biotechnology (Print) ISSN 1389-2010	HS Genetics (clinical)
2011	Artigo em periódico	Response of women with Fabry disease to enzyme replacement therapy: Comparison with men; using data from FOS¿the Fabry Outcome Survey Hughes Derralynn A; Barba Romero Miguel ÁNGEL; Hollak Carla E M; Roberto GIUGLIANI; Deegan Patrick B Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2011.03.022 ISSN 1096-7192	HS Genetics (clinical)
2011	Artigo em periódico	Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI John ÂNGELA; Fagondes SIMONE; Schwartz IDA; Ana Cecília AZEVEDO; Barrios PATRÍCIA et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.33902 ISSN 1552-4825	HS Medicine (miscellaneous)
2011	Artigo em periódico	Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency Giugliani LUCIANA; Angela SITTA; Santana Da Silva Luiz C; Nalin Tati Amp Eacute LE; Saraiva Pereira Maria LUIZA et al Jornal de Pediatria (Impresso) DOI 10.2223/JPED.2090 ISSN 0021-7557	HS Genetics (clinical)
2011	Artigo em periódico	Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases Ursula MATTE; Lagranha Valeska LIZZI; Carvalho Talita GIACOMET; Mayer Fabiana QUOOS; Roberto GIUGLIANI Journal of Inherited Metabolic Disease DOI 10.1007/s10545-011-9350-4 ISSN 0141-8955	HS Immunology and Allergy
2011	Artigo em periódico	Practical and reliable enzyme test for the detection of Mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples Camelier Marli V; Burin Maira G; De Mari JUREMA; Vieira Taiane A; Marasca GIÓRGIA et al Clinica Chimica Acta (Print) DOI 10.1016/j.cca.2011.06.001 ISSN 0009-8981	LS Clinical Biochemistry
2011	Artigo em periódico	Impact of Measures to Enhance the Value of Observational Surveys in Rare Diseases: The Fabry Outcome Survey (FOS). Clarke J T; Roberto GIUGLIANI; G Sunder PLASSMAN; Elliot PM; Pintos Morell G et al Value in Health ISSN 1098-3015	HS Health Policy
2011	Artigo em periódico	The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil Bakos Renato M; Besch ROBERT; Zoratto Gabriela G; Godinho Janaína M; Mazzotti Nicolle G et al Experimental Dermatology DOI 10.1111/j.1600-0625.2011.01332.x ISSN 0906-6705	HS Infectious Diseases
2011	Artigo em periódico	Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy Viana Gustavo M; Lima Nathália O DE; Cavaleiro ROSELY; Erik ALVES; Souza Isabel C N et al Genetics and Molecular Biology (Impresso) DOI 10.1590/S1415-47572011005000025 ISSN 1415-4757	LS Genetics

2012 Artigo em periódico

LS Cancer Research

Breast cancer risk estimates; body mass index and breast density in women submitted to mammographic screening in an underserved population

Cadernos Saúde Coletiva (UFRJ)

Belo Reyes VANESSA; Giacomazzi J; Aishameriane Venes SCHMIDT; Aishameriane Venes SCHMIDT; Patricia Santos SILVA et al

ISSN 1414-462X

2012 Artigo em periódico

LS Molecular Biology

Recombinant Encapsulated Cells Overexpressing Alpha-L</i>-Iduronidase Correct Enzyme Deficiency in Human Mucopolysaccharidosis Type I Cells

Cells Tissues Organs (Print)

Guilherme BALDO; Quoos Mayer FABIANA; Maira BURIN; Carrillo Farga JOAQUÍN; Ursula Da Silveira MATTE et al

DOI ISSN 1422-6405

2012 Artigo em periódico

HS Genetics (clinical)

Important aspects in the molecular diagnosis of mucopolysaccharidoses

Journal of Inherited Metabolic Disease (Dordrecht Online)

Brusius Facchin Ana CAROLINA; Kubaski FRANCYNE; Roberto GIUGLIANI; Sandra Leistner SEGAL; Sandra Leistner SEGAL

DOI ISSN 1573-2665

2012 Artigo em periódico

HS Neurology (clinical)

Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI

Journal of Inherited Metabolic Disease

Azevedo Ana C M; Osvaldo ARTIGALÁS; Leonardo VEDOLIN; Komlós MÁRCIA; Adriana PIRES et al

DOI ISSN 0141-8955

2011 Capítulo de livro

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Non Viral Gene Transfer Approaches for Lysosomal Storage Disorders

Non-Viral Gene Therapy

Ursula MATTE; Guilherme BALDO; Roberto GIUGLIANI

ISBN 9783075389

2011 Capítulo de livro

HS Medicine (miscellaneous)

Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)

JIMD Reports

Quaio C R D C; Grinberg H; Vieira M L C; Paula A C; Leal G N et al

DOI ISBN 9783642257513

2011 Capítulo de livro

HS Medicine (miscellaneous)

Utility of Rare Disease Registries in Latin America

JIMD Reports

Ana Maria MARTINS; Kerstenezky MARCELO; Linares ADRIANA; Politei JUAN; Kohan REGINA et al

DOI ISBN 9783642177071

2011 Artigo em periódico

LS Molecular Biology

Age-Dependent Availability and Functionality of Bone Marrow Stem Cells in an Experimental Model of Acute and Chronic Myocardial Infarction

Cell Transplantation

Ayala Lugo ANA; Tavares Angela M V; Paz Ana H R; Alegretti ANA; Miquelito LUDMILA et al

DOI ISSN 0963-6897

2011 Artigo em periódico

LS Genetics

Population analysis of the GLB1 gene in South Brazil

Genetics and Molecular Biology (Impresso)

Cléia Rosani BAIOTTO; Fernanda SPERB; Ursula MATTE; C DORNELLES; R SANO et al

ISSN 1415-4757

2011 Artigo em periódico

HS Genetics (clinical)

Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data; X-inactivation analysis and imaging evaluations

American Journal of Medical Genetics. Part A

De Camargo Pinto Louise LAPAGESSE; Maluf Sharbel WEIDNER; Sandra Leistner SEGAL; Zimmer Da Silva CAMILA; Brusius Facchin ANA et al

DOI ISSN 1552-4825

2011 Artigo em periódico

HS Medicine (miscellaneous)

Long-term; open-labeled extension study of idursulfase in the treatment of Hunter syndrome

Genetics in Medicine

Muenzer JOSEPH; Beck MICHAEL; Eng Christine M; Roberto GIUGLIANI; Harmatz PAUL et al

DOI ISSN 1098-3600

2011 Artigo em periódico

HS Medicine (miscellaneous)

Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey

Genetics in Medicine

Muenzer JOSEPH; Beck MICHAEL; Roberto GIUGLIANI; Suzuki YASUYUKI; Tylki Szymanska ANNA et al

DOI ISSN 1098-3600

2011 Artigo em periódico

HS Genetics (clinical)

DNA damage in leukocytes from pretreatment mucopolysaccharidosis type II patients- protective effect of enzyme replacement therapy

Mutation Research. Genetic Toxicology and Environmental Mutagenesis

Filippon LETÍCIA; Wayhs Carlos A Y; Atik Diana M; Manfredini VANUSA; Herber SILVANI et al

DOI ISSN 1383-5718

2011 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density

brazilian journal of medical and biological research -on line

Giacomazzi J; Aguiar E; Palmero E I; Schmidt A V; Skonieski G et al

DOI ISSN 1678-4510

2011 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy

Molecular Genetics and Metabolism (Print)

Filippon LETÍCIA; Vanzin Camila S; Biancini Giovana B; Pereira Izabela N; Manfredini VANUSA et al

DOI ISSN 1096-7192

2011 Artigo em periódico

LS Genetics

Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI

Molecular Genetics and Metabolism (Print)

Baldo GUILHERME; Ursula MATTE; Artigalas OSVALDO; Ida Vanessa SCHWARTZ; Maira Graeff BURIN et al

DOI ISSN 1096-7192

2011 Artigo em periódico

HS Genetics (clinical)

Recent Advances in Treatment Approaches of Mucopolysaccharidosis VI

Current Pharmaceutical Biotechnology (Print)

Roberto GIUGLIANI; Carvalho Clarissa G; Silvani HERBER; De Camargo Pinto Louise LAPAGESSE

ISSN 1389-2010

2011 Artigo em periódico

HS Genetics (clinical)

Response of women with Fabry disease to enzyme replacement therapy: Comparison with men; using data from FOS¿the Fabry Outcome Survey

Molecular Genetics and Metabolism (Print)

Hughes Derralynn A; Barba Romero Miguel ÁNGEL; Hollak Carla E M; Roberto GIUGLIANI; Deegan Patrick B

DOI ISSN 1096-7192

2011 Artigo em periódico

HS Medicine (miscellaneous)

Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI

American Journal of Medical Genetics. Part A

John ÂNGELA; Fagondes SIMONE; Schwartz IDA; Ana Cecília AZEVEDO; Barrios PATRÍCIA et al

DOI ISSN 1552-4825

2011 Artigo em periódico

HS Genetics (clinical)

Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency

Jornal de Pediatria (Impresso)

Giugliani LUCIANA; Angela SITTA; Santana Da Silva Luiz C; Nalin Tati Amp Eacute LE; Saraiva Pereira Maria LUIZA et al

DOI ISSN 0021-7557

2011 Artigo em periódico

HS Immunology and Allergy

Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases

Journal of Inherited Metabolic Disease

Ursula MATTE; Lagranha Valeska LIZZI; Carvalho Talita GIACOMET; Mayer Fabiana QUOOS; Roberto GIUGLIANI

DOI ISSN 0141-8955

2011 Artigo em periódico

LS Clinical Biochemistry

Practical and reliable enzyme test for the detection of Mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples

Clinica Chimica Acta (Print)

Camelier Marli V; Burin Maira G; De Mari JUREMA; Vieira Taiane A; Marasca GIÓRGIA et al

DOI ISSN 0009-8981

2011 Artigo em periódico

HS Health Policy

Impact of Measures to Enhance the Value of Observational Surveys in Rare Diseases: The Fabry Outcome Survey (FOS).

Value in Health

Clarke J T; Roberto GIUGLIANI; G Sunder PLASSMAN; Elliot PM; Pintos Morell G et al

ISSN 1098-3015

2011 Artigo em periódico

HS Infectious Diseases

The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil

Experimental Dermatology

Bakos Renato M; Besch ROBERT; Zoratto Gabriela G; Godinho Janaína M; Mazzotti Nicolle G et al

DOI ISSN 0906-6705

2011 Artigo em periódico

LS Genetics

Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy

Genetics and Molecular Biology (Impresso)

Viana Gustavo M; Lima Nathália O DE; Cavaleiro ROSELY; Erik ALVES; Souza Isabel C N et al

DOI ISSN 1415-4757