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	Artigo em periódico	A clinical study of 77 patients with mucopolysaccharidosis type II Ida Vanessa SCHWARTZ; M G RIBEIRO; J G MOTA; M B P TORALLES; P CORREIA et al Acta Paediatrica Scandinavica ISSN 0001-656X	HS Pediatrics; Perinatology and Child Health
2007	Artigo em periódico	Management guidelines for mucopolysaccharidosis VI Roberto GIUGLIANI; P HARMATZ; J E WRAITH Pediatrics International ISSN 1328-8067	HS Pediatrics; Perinatology and Child Health
2007	Artigo em periódico	Polymorphic variation of mononucleotide microsatellites in healthy humans and its implication for microsatellite instability screening. S L COSSIO; Renata Dos Santos COURA; Maria Cátira BORTOLINI; Roberto GIUGLIANI; Patrícia Ashton PROLLA et al Arquivos de Gastroenterologia ISSN 0004-2803	LS Genetics
2007	Artigo em periódico	Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II Leonardo VEDOLIN; Ida Vanessa SCHWARTZ; Marcia KOMLOS; SCHUCH; Ana Cristina Scheidt PUGA et al American Journal of Neuroradiology ISSN 0195-6108	HS Neurology (clinical)
2007	Artigo em periódico	Induction of lipid peroxidation and decrease of antioxidant defenses in symptomatic and asymptomatic patients with X-linked adrenoleukodystrophy. Marion DEON; Ângela SITTA; Alethéa Gatto BARSCHAK; Daniela De Moura COELHO; Maiara PIGATTO et al International Journal of Developmental Neuroscience ISSN 0736-5748	LS Developmental Biology
2007	Artigo em periódico	Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA) Tatiana DIETER; Ursula MATTE; Ida Vanessa SCHWARTZ; S TOMATSU; Roberto GIUGLIANI Genetics and Molecular Biology ISSN 1415-4757	LS Genetics
2007	Artigo em periódico	A clinical study of 77 patients with mucopolysaccharidosis type II Schwartz Ida VD; Ribeiro Márcia G; Mota João G; Toralles Maria Betânia P; Correia PATRÍCIA et al Acta Paediatrica (Oslo) DOI 10.1111/j.1651-2227.2007.00212.x ISSN 0803-5253	HS Pediatrics; Perinatology and Child Health
2006	Capítulo de livro	Oligosacaridosis y mucolipidosis Ida Vanessa SCHWARTZ; Carolina SOUZA; Roberto GIUGLIANI Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias ISBN 84-8473-47	HS Endocrinology; Diabetes and Metabolism
2006	Trabalho em evento	Avaliação da função renal em pacientes com Doença de Fabry durante 36 meses de terapia de reposição enzimática Scheila THOFEHRN; Claudia CECCHIN; Maira BURIN; Ursula MATTE; Silva BRUSTOLIN et al Congresso Sul-Brasileiro de Nefrologia	HS Medicine (miscellaneous)
2006	Trabalho em evento	White matter lesions in Fabry disease: a three years follow-up. Laura Bannach JARDIM; Leonardo VEDOLIN; Luciane KALAKUN; Maira BURIN; Ursula MATTE et al 6th International Symposium on Lysosomal Storage Diseases	HS Medicine (miscellaneous)
2006	Trabalho em evento	Cardiac function evaluation after 36-months of enzyme replacement therapy for Fabry disease Laura Bannach JARDIM; Claudia CECCHIN; Maira BURIN; Silvia BRUSTOLIN; L E ROHDE et al 6th International Symposium on Lysosomal Storage Diseases	HS Medicine (miscellaneous)
2006	Trabalho em evento	Brain magnetic resonance imaging and spectroscopic findings in mucopolysaccharidosis II Ida Vanessa SCHWARTZ; Leonardo VEDOLIN; Laura Bannach JARDIM; Alice SCHUCK; Ana Cristina Scheidt PUGA et al 6th International Symposium on Lysosomal Storage Diseases	HS Medicine (miscellaneous)
2006	Trabalho em evento	Improving diagnosis and management of mucopolysaccharidoses throughout the MPS Brazil network Ida Vanessa SCHWARTZ; Andressa FEDERHEN; C RAFAELLI; F HUVE; M BURIN et al 6th International Symposium on Lysosomal Storage Diseases	HS Epidemiology
2006	Trabalho em evento	Tracking mucopolysaccharidosis in Brazil: what does it happen from birth until diagnosis? Taiane Alves VIEIRA; Ida Vanessa SCHWARTZ; Louise Lapagesse De Camargo PINTO; S STEINER; M RIBEIRO et al 6th International Symposium on Lysosomal Storage Diseases	HS Medicine (miscellaneous)
2006	Trabalho em evento	Ataxias espinocerebelares em 114 famílias no Sul do Brasil: achados clínicos e moleculares Alexis TROTT; Laura Bannach JARDIM; Hector Yuri CONTI; A WANDERLEY; Henrique LUDWIG et al XVIII Congresso Brasileiro de Genética Clínica	HS Genetics (clinical)
2006	Trabalho em evento	Serviço de Informações sobre Erros Inatos do metabolismo (SIEM): experiência de 4 anos de funcionamento Silvia BRUSTOLIN; Ana Bittencourt DETANICO; Lilia REFOSCO; Maria Tereza Vieira SANSEVERINO; Roberto GIUGLIANI XVIII Congresso Brasileiro de Genética Clínica	HS Genetics (clinical)
2006	Trabalho em evento	Doença de Gaucher no Centro de Referência do Rio Grande do sul Barbara Correa KRUG; Ida Vanessa SCHWARTZ; Paulo Dornelles PICON; Roberto GIUGLIANI; Norberto MARTINS et al XVIII Congresso Brasileiro de Genética Clínica	HS Genetics (clinical)
2006	Trabalho em evento	Estimativa do perfil epidemiológico de mucopolissacaridoses no Estado do Pará Roberto GIUGLIANI; Nathalia Santos S De CASTRO; Luiz Carlos Santana Da SILVA XVIII Congresso Brasileiro de Genética Clínica	HS Genetics (clinical)
2006	Trabalho em evento	Perfil nutricional em indivíduos com mucopolissacaridose Lilia REFOSCO; Ida Vanessa SCHWARTZ; Louise Lapagesse De Camargo PINTO; Ana Cecília AZEVEDO; Taiane Alves VIEIRA et al XVIII Congresso Brasileiro de Genética Clínica	HS Genetics (clinical)
2006	Trabalho em evento	Schwannoma cervical em um paciente com mucopolissacaridose tipo II. Louise Lapagesse De Camargo PINTO; Ida Vanessa SCHWARTZ; Taiane Alves VIEIRA; María Verónica Rojas MUÑOZ; Leonardo VEDOLIN et al XVIII Congresso Brasileiro de Genética Clínica	HS Genetics (clinical)
2006	Trabalho em evento	Correlação genótipo-fenótipo: uma comparação entre irmãos com mucopolissacaridose II Taiane Alves VIEIRA; Ida Vanessa SCHWARTZ; Louise Lapagesse De Camargo PINTO; Adriana PIRES; Roberto GIUGLIANI XVIII Congresso Brasileiro de Genética Clínica	HS Genetics (clinical)
2006	Trabalho em evento	Mucopolissacaridoses: o que acontece desde o nascimento até o diagnóstico? Taiane Alves VIEIRA; Ida Vanessa SCHWARTZ; Louise Lapagesse De Camargo PINTO; Carlos STEINER; Marcia RIBEIRO et al XVIII Congresso Brasileiro de Genética Clínica	HS Medicine (miscellaneous)
2006	Trabalho em evento	Estudo de intercorrências clínicas em 30 pacientes com mucopolissacaridoses Ana Carolina De PAULA; Lilian ALBANO; Debora BERTOLA; Claudia SILVA; Vera LEVYMAN et al XVIII Congresso Brasileiro de Genética Clínica	HS Genetics (clinical)
2006	Trabalho em evento	Avaliação fonoaudiológica de pacientes com mucopolissacaridose Giovana Sasso TURRA; Ida Vanessa SCHWARTZ; Roberto GIUGLIANI XVIII Congresso Brasileiro de Genética Clínica	LS Genetics
2006	Trabalho em evento	Atendimento odontológico de pacientes com mucopolissacaridose Ida Vanessa SCHWARTZ; Isabel VERGARA; Ana Cecília AZEVEDO; Julio Cesar MACIEL; Louise Lapagesse De Camargo PINTO et al XVIII Congresso Brasileiro de Genética Clínica	HS Dentistry (miscellaneous)

2007 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

A clinical study of 77 patients with mucopolysaccharidosis type II

Acta Paediatrica Scandinavica

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

ISSN 0001-656X

2007 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Management guidelines for mucopolysaccharidosis VI

Pediatrics International

Roberto GIUGLIANI; P HARMATZ; J E WRAITH

ISSN 1328-8067

2007 Artigo em periódico

LS Genetics

Polymorphic variation of mononucleotide microsatellites in healthy humans and its implication for microsatellite instability screening.

Arquivos de Gastroenterologia

S L COSSIO; Renata Dos Santos COURA; Maria Cátira BORTOLINI; Roberto GIUGLIANI; Patrícia Ashton PROLLA et al

ISSN 0004-2803

2007 Artigo em periódico

HS Neurology (clinical)

Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II

American Journal of Neuroradiology

Leonardo VEDOLIN; Ida Vanessa SCHWARTZ; Marcia KOMLOS; SCHUCH; Ana Cristina Scheidt PUGA et al

ISSN 0195-6108

2007 Artigo em periódico

LS Developmental Biology

Induction of lipid peroxidation and decrease of antioxidant defenses in symptomatic and asymptomatic patients with X-linked adrenoleukodystrophy.

International Journal of Developmental Neuroscience

Marion DEON; Ângela SITTA; Alethéa Gatto BARSCHAK; Daniela De Moura COELHO; Maiara PIGATTO et al

ISSN 0736-5748

2007 Artigo em periódico

LS Genetics

Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA)

Genetics and Molecular Biology

Tatiana DIETER; Ursula MATTE; Ida Vanessa SCHWARTZ; S TOMATSU; Roberto GIUGLIANI

ISSN 1415-4757

2007 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

A clinical study of 77 patients with mucopolysaccharidosis type II

Acta Paediatrica (Oslo)

Schwartz Ida VD; Ribeiro Márcia G; Mota João G; Toralles Maria Betânia P; Correia PATRÍCIA et al

DOI ISSN 0803-5253

2006 Capítulo de livro

HS Endocrinology; Diabetes and Metabolism

Oligosacaridosis y mucolipidosis

Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias

Ida Vanessa SCHWARTZ; Carolina SOUZA; Roberto GIUGLIANI

ISBN 84-8473-47

2006 Trabalho em evento

HS Medicine (miscellaneous)

Avaliação da função renal em pacientes com Doença de Fabry durante 36 meses de terapia de reposição enzimática

Congresso Sul-Brasileiro de Nefrologia

Scheila THOFEHRN; Claudia CECCHIN; Maira BURIN; Ursula MATTE; Silva BRUSTOLIN et al

2006 Trabalho em evento

HS Medicine (miscellaneous)

White matter lesions in Fabry disease: a three years follow-up.

6th International Symposium on Lysosomal Storage Diseases

Laura Bannach JARDIM; Leonardo VEDOLIN; Luciane KALAKUN; Maira BURIN; Ursula MATTE et al

2006 Trabalho em evento

HS Medicine (miscellaneous)

Cardiac function evaluation after 36-months of enzyme replacement therapy for Fabry disease

6th International Symposium on Lysosomal Storage Diseases

Laura Bannach JARDIM; Claudia CECCHIN; Maira BURIN; Silvia BRUSTOLIN; L E ROHDE et al

2006 Trabalho em evento

HS Medicine (miscellaneous)

Brain magnetic resonance imaging and spectroscopic findings in mucopolysaccharidosis II

6th International Symposium on Lysosomal Storage Diseases

Ida Vanessa SCHWARTZ; Leonardo VEDOLIN; Laura Bannach JARDIM; Alice SCHUCK; Ana Cristina Scheidt PUGA et al

2006 Trabalho em evento

HS Epidemiology

Improving diagnosis and management of mucopolysaccharidoses throughout the MPS Brazil network

6th International Symposium on Lysosomal Storage Diseases

Ida Vanessa SCHWARTZ; Andressa FEDERHEN; C RAFAELLI; F HUVE; M BURIN et al

2006 Trabalho em evento

HS Medicine (miscellaneous)

Tracking mucopolysaccharidosis in Brazil: what does it happen from birth until diagnosis?

6th International Symposium on Lysosomal Storage Diseases

Taiane Alves VIEIRA; Ida Vanessa SCHWARTZ; Louise Lapagesse De Camargo PINTO; S STEINER; M RIBEIRO et al

2006 Trabalho em evento

HS Genetics (clinical)

Ataxias espinocerebelares em 114 famílias no Sul do Brasil: achados clínicos e moleculares