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
2004	Trabalho em evento	SLEEP DISORDERED BREATHING IN BRAZILIAN PATIENTS WITH MUCOPOLYSACCHARIDOSIS Ida Vanessa SCHWARTZ; S F CANANI; Ana Cecília AZEVEDO; L PINTO; A PUGA et al 8TH INTERNATIONAL SYMPOSIUM ON MUCOPOLYSACCHARIDE AND RELATED DISEASES	HS Medicine (miscellaneous)
2004	Trabalho em evento	UPDATE ON CLINICAL TRIAL RESULTS IN MPS VI S SWIEDLER; P HARMATZ; Roberto GIUGLIANI; Ida Vanessa SCHWARTZ; Ana Cecília AZEVEDO et al EUROPEAN SOCIETY OF HUMAN GENETICS	HS Genetics (clinical)
2004	Trabalho em evento	GLAUCOMA OR PSEUDO-GLAUCOMA IN A SCHEIE SYNDROME PATIENT. MANAGEMENT AND ETIOLOGIC CONSIDERATIONS María Verónica Rojas MUÑOZ; D MARINHO; P ESTEVES; Ana Cecília AZEVEDO; Ida Vanessa SCHWARTZ et al 8TH INTERNATIONAL SYMPOSIUM ON MUCOPOLYSACCHARIDE AND RELATED DISEASES	LS Genetics
2004	Trabalho em evento	DIAGNOSTIC STRATEGY FOR MUCOPOLYSACCHARIDOSES AND MUCOLIPIDOSIS S TOMATSU; K OKAMURA; H MAEDA; T TAKETANI; S VELEZCASTRILLON et al 8TH INTERNATIONAL SYMPOSIUM ON MUCOPOLYSACCHARIDE AND RELATED DISEASES	SH Accounting
2004	Trabalho em evento	INBORN ERRORS OF METABOLISM (IEM): A COMPARISON OF DIAGNOSTIC FREQUENCIES BETWEEN THE MEDICAL GENETICS LABORATORY (LGM) AT HOSPITAL DE CLÍNICAS DE PORTO ALEGRE (HCPA) AND THE INBORN ERRORS OF METABOLISM INFORMATION SERVICE (SIEM). C SOUZA; S BRUSTOLIN; Ricardo Flores PIRES; L REFOSCO; L GIUGLIANI et al 8TH INTERNATIONAL SYMPOSIUM ON MUCOPOLYSACCHARIDE AND RELATED DISEASES	HS Genetics (clinical)
2004	Trabalho em evento	PULMONARY FUNCTION IN 20 BRAZILIAN MPS II/HUNTER SYNDROME PATIENTS ASSESSED AT HOSPITAL DE CLÍNICAS DE PORTO ALEGRE; RS; BRAZIL A PUGA; L PINTO; M MOREIRA; L KALAKUN; Taiane Alves VIEIRA et al 8TH INTERNATIONAL SYMPOSIUM ON MUCOPOLYSACCHARIDE AND RELATED DISEASES	HS Medicine (miscellaneous)
2004	Trabalho em evento	PROGRESSION OF MUSCLE-SKELETAL ABNORMALITIES IN 21 BRAZILIAN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE II (MPS II/HUNTER SYNDROME) FOLLOWED AT HOSPITAL DE CLÍNICAS DE PORTO ALEGRE; RS; BRAZIL A PUGA; L PINTO; L VEDOLIN; A De ABREU; L KALAKUN et al 8TH INTERNATIONAL CONGRESS OF HUMAN GENETICS	HS Genetics (clinical)
2004	Trabalho em evento	A PROSPECTIVE OBSERVATIONAL EVALUATION OF 20 BRAZILIAN MUCOPOLYSACCHARIDOSIS TYPE 2 (HUNTER SYNDROME) PATIENTS IN A MEDICAL GENETICS SERVICE: PRELIMINARIES RESULTS L PINTO; A PUGA; P BARRIOS; D MARINHO; P ESTEVES et al 8TH INTERNATIONAL SYMPOSIUM ON MUCOPOLYSACCHARIDE AND RELATED DISEASES	HS Medicine (miscellaneous)
2004	Trabalho em evento	FAMILY ASSESSMENT OF CHILDREN WITH MPS VI FACING ENZYMATIC REPLACEMENT THERAPY L KALAKUN; Taiane Alves VIEIRA; Ana Cecília AZEVEDO; Ida Vanessa SCHWARTZ; Roberto GIUGLIANI 8TH INTERNATIONAL SYMPOSIUM ON MUCOPOLYSACCHARIDE AND RELATED DISEASES	HS Reviews and References (medical)
2004	Trabalho em evento	MUCOPOLYSACCHARIDOSIS TYPE VI - A GENOTYPE-PHENOTYPE CORRELATION STUDY IN SIX BRAZILIAN CARRIERS OF THE 1531-1553DEL23 MUTATION. Roberto GIUGLIANI; M PETRY; Ana Paula BEHEREGARAY; M ROSA; C GIUGLIANI et al 8TH INTERNATIONAL SYMPOSIUM ON MUCOPOLYSACCHARIDE AND RELATED DISEASES	HS Genetics (clinical)
2004	Trabalho em evento	CORRELAÇÃO GENÓTIPO/FENÓTIPO EM 3 PACIENTES BRASILEIROS COM MPS I APRESENTANDO A MUTAÇÃO 134DEL12 NO GENE IDUA. M V R MUNOZ; Ursula MATTE; Denise NORATO; Roberto GIUGLIANI; Ida Vanessa SCHWARTZ SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL	LS Genetics
2004	Trabalho em evento	DIAGNÓSTICO LABORATORIAL DA DOENÇA DE GAUCHER NO BRASIL Janice Carneiro COELHO; Kristiane MICHELIN; M G BURIN; Maria Luiza Saraiva PEREIRA; R F PIRES et al SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL	HS Genetics (clinical)
2004	Trabalho em evento	CARACTERIZAÇÃO BIOQUÍMICA DA ENZIMA QUITOTRIOSIDASE: COMPARAÇÃO ENTRE INDIVÍDUOS NORMAIS E PACIENTES COM AS DOENÇAS DE GAUCHER E DE NIEMANN-PICK Janice Carneiro COELHO; Alessandro WAJNER; Kristiane MICHELIN; M BURIN; Maria Luiza Saraiva PEREIRA et al SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2004	Trabalho em evento	TERAPIA DE REPOSIÇÃO ENZIMÁTICA PARA DOENÇA DE GAUCHER TIPO I: RESULTADOS APÓS 36 MESES DE TRATAMENTO Roberto GIUGLIANI; R F PIRES; Janice Carneiro COELHO; Maria Luiza Saraiva PEREIRA; Kristiane MICHELIN et al SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL	LS Clinical Biochemistry
2004	Trabalho em evento	IDENTIFICAÇÃO DE MUTAÇÕES EM PACIENTES BRASILEIROS COM DOENÇA DE FABRY F PEREIRA; L JARDIM; C CECCHIN; Roberto GIUGLIANI; Ursula MATTE SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL	HS Genetics (clinical)
2004	Trabalho em evento	ETIOLOGICAL BEHAVIORS AND CONSIDERATIONS RELATED TO GLAUCOMA OR PSEUDO-GLAUCOMA IN A PATIENTS WITH SCHEIE SYNDROME. M V R MUNOZ; Ida Vanessa SCHWARTZ; Ana Cecília AZEVEDO; D MARINHO; Roberto GIUGLIANI SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL	LS Genetics
2004	Trabalho em evento	INFORMED CONSENT ON TRIALS WITH ENZYME REPLACEMENT THERAPY FOR MUCOPOLYSACCHARIDOSES L KALAKUN; Ana Cecília AZEVEDO; Ida Vanessa SCHWARTZ; Taiane Alves VIEIRA; Louise Lapagesse De Camargo PINTO et al SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL	HS Pharmacology (medical)
2004	Trabalho em evento	DETECTION OF LYSOSOMAL DISEASES BY THE MEASUREMENT OF SPECIFIC ENZYME ACTIVITIES IN DRIED-BLOOD FILTER PAPAER SAMPLES G CIVALLERO; D CORREIA; H Pena COSTA; Ana Paula BEHEREGARAY; Kristiane MICHELIN et al SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL	HS Genetics (clinical)
2004	Trabalho em evento	GENE TRANSFER IN A MURINE MODEL FOR MUCOPOLYSACCHARIDOSIS I USING A NON VIRAL PROTOCOL M CAMASSOLA; L M BRAGA; P CHAGASTELES; T P DALBERTO; Ursula MATTE et al SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL	LS Genetics
2004	Trabalho em evento	MANEJO DAS MUCOPOLISSACARIDOSES: UMA VISÃO MULTIDISCIPLINAR Roberto GIUGLIANI; María Verónica Rojas MUNOZ; Ida Vanessa SCHWARTZ; Ana Cecília AZEVEDO; L PINTO et al SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL	MU Multidisciplinary
2004	Trabalho em evento	REDE MPS BRASIL - UMA INICIATIVA INOVADORA PARA A ABORDAGEM INTEGRADA DAS MUCOPOLISSACARIDOSES NO BRASIL Ida Vanessa SCHWARTZ; K G SOEIRO; M G BURIN; Janice Carneiro COELHO; Sandra Leistner SEGAL et al SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL	HS Maternity and Midwifery
2004	Trabalho em evento	DISTÚRBIOS RESPIRATÓRIOS DURANTE O SONO EM PACIENTES BRASILEIROS COM MUCOPOLISSACARIDOSE María Verónica Rojas MUNOZ; Ida Vanessa SCHWARTZ; S CANANI; Ana Cecília AZEVEDO; L PINTO et al SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL	HS Medicine (miscellaneous)
2004	Trabalho em evento	PROTOCOLO ESPECIAL PARA A IDENTIFICAÇÃO DE DOENÇAS LISOSSÔMICAS SELECIONADAS NO BRASIL Janice Carneiro COELHO; M BURIN; Ursula MATTE; Roberto GIUGLIANI SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL	HS Medicine (miscellaneous)
2004	Trabalho em evento	DOENÇA DE NIEMANN-PICK A E B: DIAGNÓSTICO E CARACTERIZAÇÃO INICIAL DOS PACIENTES IDENTIFICADOS EM LABORATÓRIO DE REFERÊNCIA NO BRASIL R F PIRES; Janice Carneiro COELHO; M G BURIN; Marli Viapiana CAMELIER; Roberto GIUGLIANI SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL	HS Medicine (miscellaneous)
2004	Trabalho em evento	METABOLIC INFORMATION HELPLINE: A TOOL FOR THE INVESTIGATION AND MANAGEMENT OF CHILDREN WITH ACUTE METABOLIC DISORDERS IN BRAZIL. C SOUZA; S BRUSTOLIN; L REFOSCO; Ricardo Flores PIRES; Roberto GIUGLIANI 41st. SYMPOSIUM OF THE SOCIETY FOR THE STUDY OF INBORN ERRORS OF METABOLISM	HS Medicine (miscellaneous)

2004 Trabalho em evento

HS Medicine (miscellaneous)

SLEEP DISORDERED BREATHING IN BRAZILIAN PATIENTS WITH MUCOPOLYSACCHARIDOSIS

8TH INTERNATIONAL SYMPOSIUM ON MUCOPOLYSACCHARIDE AND RELATED DISEASES

Ida Vanessa SCHWARTZ; S F CANANI; Ana Cecília AZEVEDO; L PINTO; A PUGA et al

2004 Trabalho em evento

HS Genetics (clinical)

UPDATE ON CLINICAL TRIAL RESULTS IN MPS VI

EUROPEAN SOCIETY OF HUMAN GENETICS

S SWIEDLER; P HARMATZ; Roberto GIUGLIANI; Ida Vanessa SCHWARTZ; Ana Cecília AZEVEDO et al

2004 Trabalho em evento

LS Genetics

GLAUCOMA OR PSEUDO-GLAUCOMA IN A SCHEIE SYNDROME PATIENT. MANAGEMENT AND ETIOLOGIC CONSIDERATIONS

8TH INTERNATIONAL SYMPOSIUM ON MUCOPOLYSACCHARIDE AND RELATED DISEASES

María Verónica Rojas MUÑOZ; D MARINHO; P ESTEVES; Ana Cecília AZEVEDO; Ida Vanessa SCHWARTZ et al

2004 Trabalho em evento

SH Accounting

DIAGNOSTIC STRATEGY FOR MUCOPOLYSACCHARIDOSES AND MUCOLIPIDOSIS

8TH INTERNATIONAL SYMPOSIUM ON MUCOPOLYSACCHARIDE AND RELATED DISEASES

S TOMATSU; K OKAMURA; H MAEDA; T TAKETANI; S VELEZCASTRILLON et al

2004 Trabalho em evento

HS Genetics (clinical)

INBORN ERRORS OF METABOLISM (IEM): A COMPARISON OF DIAGNOSTIC FREQUENCIES BETWEEN THE MEDICAL GENETICS LABORATORY (LGM) AT HOSPITAL DE CLÍNICAS DE PORTO ALEGRE (HCPA) AND THE INBORN ERRORS OF METABOLISM INFORMATION SERVICE (SIEM).

8TH INTERNATIONAL SYMPOSIUM ON MUCOPOLYSACCHARIDE AND RELATED DISEASES

C SOUZA; S BRUSTOLIN; Ricardo Flores PIRES; L REFOSCO; L GIUGLIANI et al

2004 Trabalho em evento

HS Medicine (miscellaneous)

PULMONARY FUNCTION IN 20 BRAZILIAN MPS II/HUNTER SYNDROME PATIENTS ASSESSED AT HOSPITAL DE CLÍNICAS DE PORTO ALEGRE; RS; BRAZIL

8TH INTERNATIONAL SYMPOSIUM ON MUCOPOLYSACCHARIDE AND RELATED DISEASES

A PUGA; L PINTO; M MOREIRA; L KALAKUN; Taiane Alves VIEIRA et al

2004 Trabalho em evento

HS Genetics (clinical)

PROGRESSION OF MUSCLE-SKELETAL ABNORMALITIES IN 21 BRAZILIAN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE II (MPS II/HUNTER SYNDROME) FOLLOWED AT HOSPITAL DE CLÍNICAS DE PORTO ALEGRE; RS; BRAZIL

8TH INTERNATIONAL CONGRESS OF HUMAN GENETICS

A PUGA; L PINTO; L VEDOLIN; A De ABREU; L KALAKUN et al

2004 Trabalho em evento

HS Medicine (miscellaneous)

A PROSPECTIVE OBSERVATIONAL EVALUATION OF 20 BRAZILIAN MUCOPOLYSACCHARIDOSIS TYPE 2 (HUNTER SYNDROME) PATIENTS IN A MEDICAL GENETICS SERVICE: PRELIMINARIES RESULTS

8TH INTERNATIONAL SYMPOSIUM ON MUCOPOLYSACCHARIDE AND RELATED DISEASES

L PINTO; A PUGA; P BARRIOS; D MARINHO; P ESTEVES et al

2004 Trabalho em evento

HS Reviews and References (medical)

FAMILY ASSESSMENT OF CHILDREN WITH MPS VI FACING ENZYMATIC REPLACEMENT THERAPY

8TH INTERNATIONAL SYMPOSIUM ON MUCOPOLYSACCHARIDE AND RELATED DISEASES

L KALAKUN; Taiane Alves VIEIRA; Ana Cecília AZEVEDO; Ida Vanessa SCHWARTZ; Roberto GIUGLIANI

2004 Trabalho em evento

HS Genetics (clinical)

MUCOPOLYSACCHARIDOSIS TYPE VI - A GENOTYPE-PHENOTYPE CORRELATION STUDY IN SIX BRAZILIAN CARRIERS OF THE 1531-1553DEL23 MUTATION.

8TH INTERNATIONAL SYMPOSIUM ON MUCOPOLYSACCHARIDE AND RELATED DISEASES

Roberto GIUGLIANI; M PETRY; Ana Paula BEHEREGARAY; M ROSA; C GIUGLIANI et al

2004 Trabalho em evento

LS Genetics

CORRELAÇÃO GENÓTIPO/FENÓTIPO EM 3 PACIENTES BRASILEIROS COM MPS I APRESENTANDO A MUTAÇÃO 134DEL12 NO GENE IDUA.