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
2005	Trabalho em evento	LONGTERM INTRAVENOUS CENTRAL LINE PLACEMENT IN ENZYME REPLACEMENT THERAPY FOR MUCOPOLYSACCHARIDOSIS TYPE II (MPS II): THE EXPERIENCE AT HOSPITAL DE CLÍNICAS DE PORTO ALEGRE; RS; BRAZIL M V MUNOZ; Louise Lapagesse De Camargo PINTO; L REFOSCO; Ida Vanessa SCHWARTZ; Roberto GIUGLIANI SSIEM 42ST ANNUAL SYMPOSIUM	HS Genetics (clinical)
2005	Trabalho em evento	MUCOPOLYSACCHARIDOSIS TYPE II: A CLINICAL STUDY OF 77 SOUTH-AMERICAN PATIENTS Ida Vanessa SCHWARTZ; M RIBEIRO; J MOTA; M TORALLES; P CORREIA et al SSIEM 42ST ANNUAL SYMPOSIUM	HS Genetics (clinical)
2005	Trabalho em evento	A PHASE 3; RANDOMIZED; DOUBLE-BLIND; PLACEBO-CONTROLLED; MULTICENTER; MULTINATIONAL CLINICAL STUDY OF RECOMBINANT HUMAN N-ACETYLGALACTOSAMINE 4 SULFATASE (RHASB) IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS VI N GUFFON; P HARMATZ; Roberto GIUGLIANI; Ida Vanessa SCHWARTZ; C MIRANDA et al SSIEM 42ST ANNUAL SYMPOSIUM	HS Pediatrics; Perinatology and Child Health
2005	Trabalho em evento	MUCOPOLYSACCHARIDOSIS TYPE VI: IDENTIFICATION OF NOVEL MUTATIONS ON THE ARYLSULPHATASE B GENE IN SOUTH-AMERICAN PATIENTS M PETRY; L NONEMACHER; J SEBBEN; Ida Vanessa SCHWARTZ; Ana Cecília AZEVEDO et al SSIEM 42ST ANNUAL SYMPOSIUM	LS Genetics
2005	Trabalho em evento	BRAZILIAN NATIONWIDE DATA ABOUT INHERITED METABOLIC DISEASE DONE BY A NON GOVERNMENT ORGANIZATION C MICHELETTI; S ARAUJO; C SOUZA; E VALADARES; Roberto GIUGLIANI et al SSIEM 42ST ANNUAL SYMPOSIUM	LS Cancer Research
2005	Trabalho em evento	ANÁLISE MOLECULAR DE SEIS PACIENTES COM DOENÇA DE FABRY F S PEREIRA; Ursula MATTE; L JARDIM; L KALAKUN; C CECCHIN et al 25a. SEMANA CIENTÍFICA DO HCPA	LS Genetics
2005	Trabalho em evento	SERVIÇO DE INFORMAÇÕES SOBRE ERROS INATOS DO METABOLISMO A B DETANICO; C SOUZA; S BRUSTOLIN; T TUBINO; L REFOSCO et al 25a. SEMANA CIENTÍFICA DO HCPA	HS Infectious Diseases
2005	Trabalho em evento	SCREENING OF FABRY DISEASE USING DRIED BLOOD SPOTS ON FILTER PAPER: EXPERIENCE OF A BRAZILIAN CENTER M TSAO; M BURIN; A NUNES; E BARROS; F PEREIRA et al 15TH EUROPEAN STUDY GROUP ON LYSOSOMAL DISEASES	LS Clinical Biochemistry
2005	Trabalho em evento	RANDOMIZED; DOUBLE-BLIND; PLACEBO-CONTROLLED; MULTICENTER; MULTINATIONAL CLINICAL STUDY (PHASE III) OF RECOMBINANT HUMAN N-ACETYLGALACTOSAMINE 4-SULFATASE (rhASB) IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS VI. Roberto GIUGLIANI; Ida Vanessa SCHWARTZ; C Sá MIRANDA; E TELES; J E WRAITH et al 15TH EUROPEAN STUDY GROUP ON LYSOSOMAL DISEASES	HS Medicine (miscellaneous)
2005	Trabalho em evento	MPS-BRAZIL NETWORK: A COUNTRY WIDE INITIATIVE TO IMPROVE DIAGNOSIS AND AMANGEMENT OF MUCOPOLYSACCHARIDOSES IN BRAZIL Ida Vanessa SCHWARTZ; K SOEIRO; C RAFAELLI; M BURIN; J COELHO et al 15TH EUROPEAN STUDY GROUP ON LYSOSOMAL DISEASES	HS Endocrinology; Diabetes and Metabolism
2005	Trabalho em evento	NON-IMMUNE FETAL HYDROPSI: A PROPOSAL TO REACH THE DIAGNOSIS OF LYSOSOMAL DISEASES M BURIN; A P SCHOLZ; R GUS; M T SANSEVERINO; A FRITSCH et al 15TH EUROPEAN STUDY GROUP ON LYSOSOMAL DISEASES	LS Genetics
2005	Trabalho em evento	DIAGNOSIS OF LYSOSOMAL DISORDERS IN BRAZIL: RESULTS IN 26;900 HIGH-RISK PATIENTS SUBMITTED TO A SCREENING PROTOCOL M G BURIN; Kristiane MICHELIN; Marli Viapiana CAMELIER; R GUIDOBONO; M TSAO et al 15TH EUROPEAN STUDY GROUP ON LYSOSOMAL DISEASES	LS Genetics
2005	Trabalho em evento	INTRATHECAL ENZYME REPLACEMENT THERAPY IN A PATIENT WITH MUCOPOLYSACCHARIDOSIS AND SYMPTOMATIC SPINAL CORD COMPRESSION Roberto GIUGLIANI; R MUNOZ; P DICKSON; Taiane Alves VIEIRA; R COSTA et al 15TH EUROPEAN STUDY GROUP ON LYSOSOMAL DISEASES	HS Reproductive Medicine
2005	Trabalho em evento	UPDATE ON ENZYME REPLACEMENT THERAPY (ERT) WITH RECOMBINANT HUMAN ARYLSULFATASE B (rhASB) FOR MPS VI (MAROTEAUX-LAMY) P HARMATZ; Roberto GIUGLIANI; Ida Vanessa SCHWARTZ; N GUFFON; C Sa MIRANDA et al EUROPEAN SOCIETY OF HUMAN GENETICS	HS Genetics (clinical)
2005	Trabalho em evento	DETECTION OF MICROCHIMERISM USING SHORT TANDEM REPEATS IN PATIENTS SUBMITTED TO BLOOD TRANSFUSION A C MARDINI; S SCHUMACHER; M H ALBARUS; R RODENBUSCH; Roberto GIUGLIANI et al INTERNATIONAL INTERNATIONAL SOCIETY FOR FORENSIC GENETICS - 21ST. CONGRESS	LS Genetics
2005	Trabalho em evento	ALLELE FREQUENCY OF 12 Y-STR LOCI IN THE BRAZILIAN POPULATION FROM SOUTH BRAZIL R RODENBUSCH; A C MARDINI; A A F ESTIVALET; André Zoratto GASTALDO; S SCHUMACHER et al INTERNATIONAL SOCIETY FOR FORENSIC GENETICS - 21ST. CONGRESS	LS Genetics
2005	Trabalho em evento	DIAGNÓSTICO DAS DOENÇAS MITOCONDRIAIS: APLICAÇÃO DE UM PROTOCOLO SISTEMÁTICO EM UM GRUPO DE PACIENTES COM FORTE SUSPEITA CLÍNICA. C F M SOUZA; L LAYBAUER; N COPETTI; B CRUZ; M CERSKI et al II CONGRESSO BRASILEIRO DE NEUROLOGIA INFANTIL	LS Neurology
2005	Trabalho em evento	VALIDAÇÃO DO EXAME BINS DO DESENVOLVIMENTO NEUROPSICOMOTOR EM CRIANÇAS NORMAIS LATINO-AMERICANAS. C DEUTSCHENDORF; J C L LEITE; L O DEWES; Roberto GIUGLIANI XVII SALÃO DE INICIAÇÃO CIENTÍFICA	SH Psychology (miscellaneous)
2005	Trabalho em evento	PROGRAMA DE MONITORAMENTO DE DEFEITOS CONGÊNITOS: 22 ANOS DE EXPERIÊNCIA NO HOSPITAL DE CLÍNICAS DE PORTO ALEGRE L O DEWES; C DEUTSCHENDORF; R S WACHHOLZ; C CHESKY; V R PHILIPSEN et al XVII SALÃO DE INICIAÇÃO CIENTÍFICA	HS Medicine (miscellaneous)
2005	Trabalho em evento	ENZYME REPLACEMENT THERAPY (ERT) WITH RECOMBINANT HUMAN ARYLSULFATASE B (rhASB) FOR MPS VI (MAROTEAUX-LAMY)- 96 WEEK FOLLOW-UP. P HARMATZ; D KETTERIDGE; J HOPWOOD; Roberto GIUGLIANI; Ida Vanessa SCHWARTZ et al 55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS	HS Genetics (clinical)
2005	Trabalho em evento	THE PHASE II/III 12S ENZYME REPLACEMENT (ERT) CLINICAL TRIAL RESULTS FOR MPS II. J MUENZER; E WRAITH; M BECK; Roberto GIUGLIANI; P HARMATZ et al 55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2005	Trabalho em evento	A NEW CLINICAL FINDING IN THE RICHIERI-PEREIRA TYPE OF ACROFACIAL DYSOSTOSIS. L O DEWES; V R PHILIPSEN; M B GOLBERT; R S WACHHOLZ; C DEUTSCHENDORF et al 55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS	HS Medicine (miscellaneous)
2005	Trabalho em evento	ONTOGENETIC CHANGES IN SERUM S100B IN DOWN SYNDROME PATIENTS C A GONÇALVES; Cristina Brinckmann De Oliveira NETTO; L PORTELA; C KIELING; Ursula MATTE et al 55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS	HS Genetics (clinical)
2005	Trabalho em evento	STUDY OF NATURAL HISTORY AND GENOTYPE ANALYSIS OF JUVENILE GM2 GANGLIOSIDOSIS G H B MAEGAWA; M TROPAK; D MAHURAN; T STOCKLEY; Roberto GIUGLIANI et al 55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS	LS Genetics
2005	Trabalho em evento	LYSOSOMAL DISORDERS IN BRAZIL: RESULTS IN 26.900 HIGH-RISK PATIENTS SUBMITTED TO A SCREENING PROTOCOL Janice Carneiro COELHO; M G BURIN; Kristiane MICHELIN; Marli Viapiana CAMELIER; R GUIDOBONO et al 55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS	LS Genetics

2005 Trabalho em evento

HS Genetics (clinical)

LONGTERM INTRAVENOUS CENTRAL LINE PLACEMENT IN ENZYME REPLACEMENT THERAPY FOR MUCOPOLYSACCHARIDOSIS TYPE II (MPS II): THE EXPERIENCE AT HOSPITAL DE CLÍNICAS DE PORTO ALEGRE; RS; BRAZIL

SSIEM 42ST ANNUAL SYMPOSIUM

M V MUNOZ; Louise Lapagesse De Camargo PINTO; L REFOSCO; Ida Vanessa SCHWARTZ; Roberto GIUGLIANI

2005 Trabalho em evento

HS Genetics (clinical)

MUCOPOLYSACCHARIDOSIS TYPE II: A CLINICAL STUDY OF 77 SOUTH-AMERICAN PATIENTS

SSIEM 42ST ANNUAL SYMPOSIUM

Ida Vanessa SCHWARTZ; M RIBEIRO; J MOTA; M TORALLES; P CORREIA et al

2005 Trabalho em evento

HS Pediatrics; Perinatology and Child Health

A PHASE 3; RANDOMIZED; DOUBLE-BLIND; PLACEBO-CONTROLLED; MULTICENTER; MULTINATIONAL CLINICAL STUDY OF RECOMBINANT HUMAN N-ACETYLGALACTOSAMINE 4 SULFATASE (RHASB) IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS VI

SSIEM 42ST ANNUAL SYMPOSIUM

N GUFFON; P HARMATZ; Roberto GIUGLIANI; Ida Vanessa SCHWARTZ; C MIRANDA et al

2005 Trabalho em evento

LS Genetics

MUCOPOLYSACCHARIDOSIS TYPE VI: IDENTIFICATION OF NOVEL MUTATIONS ON THE ARYLSULPHATASE B GENE IN SOUTH-AMERICAN PATIENTS

SSIEM 42ST ANNUAL SYMPOSIUM

M PETRY; L NONEMACHER; J SEBBEN; Ida Vanessa SCHWARTZ; Ana Cecília AZEVEDO et al

2005 Trabalho em evento

LS Cancer Research

BRAZILIAN NATIONWIDE DATA ABOUT INHERITED METABOLIC DISEASE DONE BY A NON GOVERNMENT ORGANIZATION

SSIEM 42ST ANNUAL SYMPOSIUM

C MICHELETTI; S ARAUJO; C SOUZA; E VALADARES; Roberto GIUGLIANI et al

2005 Trabalho em evento

LS Genetics

ANÁLISE MOLECULAR DE SEIS PACIENTES COM DOENÇA DE FABRY

25a. SEMANA CIENTÍFICA DO HCPA

F S PEREIRA; Ursula MATTE; L JARDIM; L KALAKUN; C CECCHIN et al

2005 Trabalho em evento

HS Infectious Diseases

SERVIÇO DE INFORMAÇÕES SOBRE ERROS INATOS DO METABOLISMO

25a. SEMANA CIENTÍFICA DO HCPA

A B DETANICO; C SOUZA; S BRUSTOLIN; T TUBINO; L REFOSCO et al

2005 Trabalho em evento

LS Clinical Biochemistry

SCREENING OF FABRY DISEASE USING DRIED BLOOD SPOTS ON FILTER PAPER: EXPERIENCE OF A BRAZILIAN CENTER