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
2007	Trabalho em evento	Epstein-Bar virus - induced transformation of B cells for the diagnosis of genetic metabolic disorders A S MELLO; Maira Graeff BURIN; Kristiane MICHELIN; Marli VIAPIANA; Roberto GIUGLIANI et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Genetics
2007	Trabalho em evento	Avaliação do uso de células de medula em modelo animal de lesão hepática aguda induzida por paracetamol Maria Cristina Ramos BELARDINELLI; Fernanda Dos Santos PEREIRA; Guilherme BALDO; C KIELING; T R Da SILVEIRA et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Cell Biology
2007	Trabalho em evento	Inborn errors of metabolism information service (SIEM): 5-year results of a pioneering metabolism disorder call free service in Brazil (08005102858) Cláudio Dacier LOBATO; L GIUGLIANI; Silvani HERBER; Lília Farrett REFOSCO; Cristina Brinckmann De Oliveira NETTO et al VI Congreso Latinoamericano de errores innatos del metabolismo y pesquisa neonatal	HS Genetics (clinical)
2007	Trabalho em evento	Análise de doenças metabólicas diagnosticadas pelo Serviço de Informações sobre Erros Inatos do Metabolismo (SIEM) Silvani HERBER; L GIUGLIANI; Cláudio Dacier LOBATO; Cristina Brinckmann De Oliveira NETTO; Maria Tereza Vieira SANSEVERINO et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	HS Genetics (clinical)
2007	Trabalho em evento	Reversion of activated phenotype in GRX cells using RNAI for TGF-BETA: preliminary results. Fernanda OLIVEIRA; Uribe C; M REZENDE; Roberto GIUGLIANI; L MEURER et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Molecular Biology
2007	Trabalho em evento	Systematization of follow-up in patients with an inherited metabolic disease at the Instituto Canguru - An NGO in Brazil Cecilia MICHELETTI; R B OLIVEIRA; S ARAUJO; Eugenia VALADARES; Roberto GIUGLIANI et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2007	Trabalho em evento	Adrenoleukodystrophy genomic analysis of a case series in brazilian families Fernanda Dos Santos PEREIRA; Ursula MATTE; Carmen Regla VARGAS; Roberto GIUGLIANI; Laura Bannach JARDIM VI Congreso latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Genetics
2007	Trabalho em evento	X-linked adrenoleukodystrophy genomic analysis of a case series in brazilian families Fernanda Dos Santos PEREIRA; Ursula MATTE; Carmen Regla VARGAS; Roberto GIUGLIANI; Laura Bannach JARDIM VI Congreso latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Genetics
2007	Trabalho em evento	Transient tyrosinemia: diagnosis improvement with a expanded neonatal screening Cecilia MICHELETTI; R B OLIVEIRA; Soraya ARAUJO; Armando FONSECA; C F M SOUZA et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2007	Trabalho em evento	Lipid peroxidation and membrane protein thiol content in plasma of patients with peroxisomal biogenesis disorders Marion DEON; Angela SITTA; Alethéa Gatto BARSCHAK; Thatiana TERROSO; Maiara PIGATTO et al V International Conference on Peroxynitrite and Reactive Nitrogen Species	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2007	Trabalho em evento	Maple syrup urine disease patients under treatment:reduction on antioxidant system Alethéa Gatto BARSCHAK; Angela SITTA; Marion DEON; Anelise CARVALHO; Busanello ENB et al V International conference on peroxynitrite andreactive nitrogen species	HS Endocrinology; Diabetes and Metabolism
2007	Trabalho em evento	Phase 3 extension 96-week study data for Naglazyme (galsulfase) enzyme replacement therapy in MPS VI patients. P HARMATZ; Roberto GIUGLIANI; Ida Vanessa SCHWARTZ; N GUFFON; C Sá MIRANDA et al 57th Annual meeting - American Society of human genetics	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2007	Trabalho em evento	Machado-Joseph Disease enhances genetic fitness: a comparison between affected and unaffected women between MJD and the general population. P R PRESTES; Maria Luiza Saraiva PEREIRA; I SILVEIRA; Jorge SEQUEIROS; Roberto GIUGLIANI et al 5th Annual Meeting of the American Society of Human Genetics	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2007	Trabalho em evento	A neurological examination score for the assessment of spinocerebellar ataxia. Laura Bannach JARDIM; Carlos Roberto RIEDER; A CHAVES; Claudia CECCHIN; Monte TL et al 5th Annual Meeting of the American Society of Human Genetics	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2007	Trabalho em evento	Survival in Machado-Joseph Disease Christian KIELING; P R PRESTES; Roberto GIUGLIANI; Maria Luiza Saraiva PEREIRA; Laura Bannach JARDIM 5th Annual Meeting of the American Society of Human Genetics	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2007	Trabalho em evento	Angiokeratoma: an important clue for the diagnosis of Fabry Disease Lilian ALBANO; C RIVITTI; Roberto GIUGLIANI; L C F SÁ; D R BERTOLA et al 5th Annual Metting of the American Society of Human genetics	HS Genetics (clinical)
2007	Trabalho em evento	MPS-Brazil Network: 3 years improving diagnosis and management of Mucopolysaccharidoses in Brazil Ida Vanessa SCHWARTZ; Andressa FEDERHEN; Celio Luiz RAFAELLI; Ursula MATTE; Janice Carneiro COELHO et al 5th Annual Meeting of the American Society of Human Genetics	HS Genetics (clinical)
2007	Trabalho em evento	Evidence that oxidative stress is increased in plasma of patients with peroxisome biogenesis disorders. Marion DEON; Ângela SITTA; Alethéa Gatto BARSCHAK; Thatiana TERROSO; Maiara PIGATTO et al 5th Annual Meeting of the American Society of Human Genetics	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2007	Trabalho em evento	Clinical characteristics of patients with mucopolysaccharidosis type II: Hunter outcome survey (HOS). J E WRAITH; B K BURTON; J MUENZER; Michael BECK; Roberto GIUGLIANI et al 5th Annual Meeting of the American Society of Human Genetics	HS Genetics (clinical)
2007	Trabalho em evento	Intrathecal enzyme replacement therapy in a child with mucopolysaccharidosis VI and symptomatic spinal cord compression María Verónica Rojas MUÑOZ; Dafne HOROVITZ; Taiane Alves VIEIRA; R COSTA; Leonardo VEDOLIN et al 5th Annual Meeting of the American Society of Human Genetics	HS Genetics (clinical)
2007	Trabalho em evento	Urinary GAG behavior and clinical correlation in three patients with MPS-I-Scheie during irregular enzyme replacement therapy María Verónica Rojas MUÑOZ; Taiane Alves VIEIRA; Andressa FEDERHEN; Louise Lapagesse De Camargo PINTO; Katia LAZZARONI et al 5th Annual Meeting of the American Society of Human Genetics	HS Genetics (clinical)
2007	Trabalho em evento	Treating symptomatic spinal cord compression with intratechal enzyme therapy in three brazilian patients with MPS: what has happened so far. Roberto GIUGLIANI; Dafne HOROVITZ; Laura Bannach JARDIM; R COSTA; Simone FAGONDES et al 5th annual meeting of the American Society of Human Genetics	HS Genetics (clinical)
2007	Trabalho em evento	Long-term weekly dosing of idursulfase in the treatment of mucopolysaccharidosis II (MPS II; Hunter syndrome). J MUENZER; E WRAITH; Michael BECK; Roberto GIUGLIANI; P HARMATZ et al 5th Annual Meeting of the American Society of Human Genetics	HS Medicine (miscellaneous)
2007	Trabalho em evento	Early experience with intrathecal rhlDU for spinal cord compression in MPS I patients. Patricia DICKSON; María Verónica Rojas MUÑOZ; Roberto GIUGLIANI; D NAYLOR; A CHEN et al 5th Annual Meeting of the American Society of Human Genetics	HS Medicine (miscellaneous)
2007	Trabalho em evento	The Hunter Outcome Survey: first data on latin american patients and preliminary comparison with data from the rest of the world. Roberto GIUGLIANI; Louise Lapagesse De Camargo PINTO; Taiane Alves VIEIRA; María Verónica Rojas MUNOZ; Ida Vanessa SCHWARTZ et al Congress of the Latin American Society of Inborn Errors of Metabolism and Newborn screening	HS Genetics (clinical)

2007 Trabalho em evento

LS Genetics

Epstein-Bar virus - induced transformation of B cells for the diagnosis of genetic metabolic disorders

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

A S MELLO; Maira Graeff BURIN; Kristiane MICHELIN; Marli VIAPIANA; Roberto GIUGLIANI et al

2007 Trabalho em evento

LS Cell Biology

Avaliação do uso de células de medula em modelo animal de lesão hepática aguda induzida por paracetamol

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Maria Cristina Ramos BELARDINELLI; Fernanda Dos Santos PEREIRA; Guilherme BALDO; C KIELING; T R Da SILVEIRA et al

2007 Trabalho em evento

HS Genetics (clinical)

Inborn errors of metabolism information service (SIEM): 5-year results of a pioneering metabolism disorder call free service in Brazil (08005102858)

VI Congreso Latinoamericano de errores innatos del metabolismo y pesquisa neonatal

Cláudio Dacier LOBATO; L GIUGLIANI; Silvani HERBER; Lília Farrett REFOSCO; Cristina Brinckmann De Oliveira NETTO et al

2007 Trabalho em evento

HS Genetics (clinical)

Análise de doenças metabólicas diagnosticadas pelo Serviço de Informações sobre Erros Inatos do Metabolismo (SIEM)

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Silvani HERBER; L GIUGLIANI; Cláudio Dacier LOBATO; Cristina Brinckmann De Oliveira NETTO; Maria Tereza Vieira SANSEVERINO et al

2007 Trabalho em evento

LS Molecular Biology

Reversion of activated phenotype in GRX cells using RNAI for TGF-BETA: preliminary results.

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Fernanda OLIVEIRA; Uribe C; M REZENDE; Roberto GIUGLIANI; L MEURER et al

2007 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Systematization of follow-up in patients with an inherited metabolic disease at the Instituto Canguru - An NGO in Brazil

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Cecilia MICHELETTI; R B OLIVEIRA; S ARAUJO; Eugenia VALADARES; Roberto GIUGLIANI et al

2007 Trabalho em evento

LS Genetics

Adrenoleukodystrophy genomic analysis of a case series in brazilian families

VI Congreso latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Fernanda Dos Santos PEREIRA; Ursula MATTE; Carmen Regla VARGAS; Roberto GIUGLIANI; Laura Bannach JARDIM

2007 Trabalho em evento

LS Genetics

X-linked adrenoleukodystrophy genomic analysis of a case series in brazilian families

VI Congreso latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Fernanda Dos Santos PEREIRA; Ursula MATTE; Carmen Regla VARGAS; Roberto GIUGLIANI; Laura Bannach JARDIM

2007 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Transient tyrosinemia: diagnosis improvement with a expanded neonatal screening

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Cecilia MICHELETTI; R B OLIVEIRA; Soraya ARAUJO; Armando FONSECA; C F M SOUZA et al

2007 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Lipid peroxidation and membrane protein thiol content in plasma of patients with peroxisomal biogenesis disorders

V International Conference on Peroxynitrite and Reactive Nitrogen Species

Marion DEON; Angela SITTA; Alethéa Gatto BARSCHAK; Thatiana TERROSO; Maiara PIGATTO et al

2007 Trabalho em evento

HS Endocrinology; Diabetes and Metabolism

Maple syrup urine disease patients under treatment:reduction on antioxidant system

V International conference on peroxynitrite andreactive nitrogen species

Alethéa Gatto BARSCHAK; Angela SITTA; Marion DEON; Anelise CARVALHO; Busanello ENB et al

2007 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Phase 3 extension 96-week study data for Naglazyme (galsulfase) enzyme replacement therapy in MPS VI patients.

57th Annual meeting - American Society of human genetics

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

2007 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Machado-Joseph Disease enhances genetic fitness: a comparison between affected and unaffected women between MJD and the general population.

5th Annual Meeting of the American Society of Human Genetics

P R PRESTES; Maria Luiza Saraiva PEREIRA; I SILVEIRA; Jorge SEQUEIROS; Roberto GIUGLIANI et al

2007 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

A neurological examination score for the assessment of spinocerebellar ataxia.

5th Annual Meeting of the American Society of Human Genetics

Laura Bannach JARDIM; Carlos Roberto RIEDER; A CHAVES; Claudia CECCHIN; Monte TL et al

2007 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Survival in Machado-Joseph Disease

5th Annual Meeting of the American Society of Human Genetics

Christian KIELING; P R PRESTES; Roberto GIUGLIANI; Maria Luiza Saraiva PEREIRA; Laura Bannach JARDIM

2007 Trabalho em evento

HS Genetics (clinical)

Angiokeratoma: an important clue for the diagnosis of Fabry Disease

5th Annual Metting of the American Society of Human genetics

Lilian ALBANO; C RIVITTI; Roberto GIUGLIANI; L C F SÁ; D R BERTOLA et al

2007 Trabalho em evento

HS Genetics (clinical)

MPS-Brazil Network: 3 years improving diagnosis and management of Mucopolysaccharidoses in Brazil

5th Annual Meeting of the American Society of Human Genetics

Ida Vanessa SCHWARTZ; Andressa FEDERHEN; Celio Luiz RAFAELLI; Ursula MATTE; Janice Carneiro COELHO et al

2007 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Evidence that oxidative stress is increased in plasma of patients with peroxisome biogenesis disorders.

5th Annual Meeting of the American Society of Human Genetics

Marion DEON; Ângela SITTA; Alethéa Gatto BARSCHAK; Thatiana TERROSO; Maiara PIGATTO et al

2007 Trabalho em evento

HS Genetics (clinical)

Clinical characteristics of patients with mucopolysaccharidosis type II: Hunter outcome survey (HOS).

5th Annual Meeting of the American Society of Human Genetics

J E WRAITH; B K BURTON; J MUENZER; Michael BECK; Roberto GIUGLIANI et al

2007 Trabalho em evento

HS Genetics (clinical)

Intrathecal enzyme replacement therapy in a child with mucopolysaccharidosis VI and symptomatic spinal cord compression

5th Annual Meeting of the American Society of Human Genetics

María Verónica Rojas MUÑOZ; Dafne HOROVITZ; Taiane Alves VIEIRA; R COSTA; Leonardo VEDOLIN et al

2007 Trabalho em evento

HS Genetics (clinical)

Urinary GAG behavior and clinical correlation in three patients with MPS-I-Scheie during irregular enzyme replacement therapy

5th Annual Meeting of the American Society of Human Genetics

María Verónica Rojas MUÑOZ; Taiane Alves VIEIRA; Andressa FEDERHEN; Louise Lapagesse De Camargo PINTO; Katia LAZZARONI et al

2007 Trabalho em evento

HS Genetics (clinical)

Treating symptomatic spinal cord compression with intratechal enzyme therapy in three brazilian patients with MPS: what has happened so far.

5th annual meeting of the American Society of Human Genetics

Roberto GIUGLIANI; Dafne HOROVITZ; Laura Bannach JARDIM; R COSTA; Simone FAGONDES et al

2007 Trabalho em evento

HS Medicine (miscellaneous)

Long-term weekly dosing of idursulfase in the treatment of mucopolysaccharidosis II (MPS II; Hunter syndrome).

5th Annual Meeting of the American Society of Human Genetics

J MUENZER; E WRAITH; Michael BECK; Roberto GIUGLIANI; P HARMATZ et al

2007 Trabalho em evento

HS Medicine (miscellaneous)

Early experience with intrathecal rhlDU for spinal cord compression in MPS I patients.

5th Annual Meeting of the American Society of Human Genetics

Patricia DICKSON; María Verónica Rojas MUÑOZ; Roberto GIUGLIANI; D NAYLOR; A CHEN et al

2007 Trabalho em evento

HS Genetics (clinical)

The Hunter Outcome Survey: first data on latin american patients and preliminary comparison with data from the rest of the world.

Congress of the Latin American Society of Inborn Errors of Metabolism and Newborn screening

Roberto GIUGLIANI; Louise Lapagesse De Camargo PINTO; Taiane Alves VIEIRA; María Verónica Rojas MUNOZ; Ida Vanessa SCHWARTZ et al