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	Artigo em periódico	Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses S TOMATSU; M GUTIERREZ; T ISHIMARU; O PENA; A M MONTANO et al Journal of Inherited Metabolic Disease ISSN 0141-8955	HS Biochemistry (medical)
2005	Artigo em periódico	Biochemical properties of beta-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers. Kristiane MICHELIN; Alessandro WAJNER; H BOCK; R ROSENBERG; R F PIRES et al Clinica Chimica Acta DOI 10.1016/j.cccn.2005.06.010 ISSN 0009-8981	LS Clinical Biochemistry
2005	Artigo em periódico	Mucopolysaccharidosis type VI: identification of novel mutations on the arylsulphatase B gene in South American patients M F G PETRY; K NONEMACHER; J C SEBBEN; Ida Vanessa SCHWARTZ; Ana Cecília AZEVEDO et al Journal of Inherited Metabolic Disease DOI 10.1007/s10545-005-0020-2 ISSN 0141-8955	LS Genetics
2005	Artigo em periódico	Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses S TOMATSU; K OKAMURA; H MAEDA; T TAKETANI; S V CASTRILLON et al Journal of Inherited Metabolic Disease ISSN 0141-8955	HS Biochemistry (medical)
2005	Artigo em periódico	Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model M CAMASSOLA; L M BRAGA; A D CANEDO; T P DALBERTO; Ursula MATTE et al Journal of Inherited Metabolic Disease DOI 10.1007/s10545-005-0070-5 ISSN 0141-8955	LS Genetics
2005	Artigo em periódico	3-hydroxyglutaric acid moderately impairs energy metabolism in brain of young rats A LATINI; M RODRIGUEZ; R Borba ROSA; K SCUSSIATO; G LEIPNITZ et al Neuroscience DOI 10.1016/j.neuroscience.2005.05.013 ISSN 0306-4522	HS Neurology (clinical)
2005	Artigo em periódico	MPS Brazil Network: an alternative approach to improve diagnosis of metabolic disorders in developing countries Roberto GIUGLIANI; Ida Vanessa SCHWARTZ Journal Of Metabolism And Genetics	HS Medicine (miscellaneous)
2005	Artigo em periódico	Threshold effect of urinary glucosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). S J SWIEDLER; M BECK; M BAJBOUJ; Roberto GIUGLIANI; Ida Vanessa SCHWARTZ et al American Journal of Medical Genetics DOI 10.1002/ajmg.a.30579 ISSN 0148-7299	HS Genetics (clinical)
2004	Capítulo de livro	FREQUÊNCIAS DE DEFEITOS CONGÊNITOS EM REGIÃO CARBONÍFERA: UM ESTUDO NO RIO GRANDE DO SUL J C L LEITE; L SCHULER; E TATTO; C A MELO; A S NUNES et al CARVÃO E MEIO AMBIENTE	PS Environmental Science (miscellaneous)
2004	Capítulo de livro	TESTES POPULACIONAIS NA ERA DA MEDICINA GENÔMICA Roberto GIUGLIANI; P ASHTONPROLLA MEDICINA GENÔMICA	HS Medicine (miscellaneous)
2004	Capítulo de livro	ACONSELHAMENTO GENÉTICO NA ERA GENÔMICA P ASHTONPROLLA; Roberto GIUGLIANI MEDICINA GENÔMICA	HS Medicine (miscellaneous)
2004	Capítulo de livro	FUNDAMENTOS DE TERAPIA GÊNICA Ursula MATTE; Roberto GIUGLIANI BIOSSEGURANÇA EM BIOTECNOLOGIA	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2004	Trabalho em evento	PHARMACOKINETIC PROFILE OF RECOMBINANT HUMAN N-ACETYLGALACTOSAMINE 4-SULFATASE (RHASB) ENZYME REPLACEMENT THERAPY IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS VI (MAROTEAUX-LAMY SINDROME) P HARMATZ; C WHITLEY; R STEINER; B PLECKO; P KAPLAN et al ANNUAL MEETING SOCIETY FOR INHERITED METABOLIC DISEASES	LS Genetics
2004	Trabalho em evento	MUCOPOLYSACCHARIDOSIS TYPE VI - A GENOTYPE-PHENOTYPE CORRELATION STUDY IN SIX BRAZILIAN CARRIERS OF THE 1531-1553DEL23 MUTATION Ana Cecília AZEVEDO; M PETRY; Ana Paula BEHEREGARAY; M BURIN; Ida Vanessa SCHWARTZ et al LYSOSOMAL DISEASE RESEARCH NETWORK SYMPOSIUM	HS Endocrinology; Diabetes and Metabolism
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). Roberto GIUGLIANI; S BRUSTOLIN; Ricardo Flores PIRES; L GIUGLIANI; Janice Carneiro COELHO et al LYSOSOMAL DISEASE RESEARCH NETWORK SYMPOSIUM	HS Genetics (clinical)
2004	Trabalho em evento	NON VIRAL GENE TRANSFER IN A MURINE MODEL FOR MUCOPOLYSACCHARIDOSIS I M CAMASSOLA; L BRAGA; P CHAGASTELLES; T DALBERTO; Ursula MATTE et al LYSOSOMAL DISEASE RESEARCH NETWORK SYMPOSIUM	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2004	Trabalho em evento	SLEEP DISORDERED BREATHING IN BRAZILIAN PATIENTS WITH MUCOPOLYSACCHARIDOSIS S CANANI; Ida Vanessa SCHWARTZ; Ana Cecília AZEVEDO; L PINTO; A PUGA et al LYSOSOMAL DISEASE RESEARCH NETWORK SYMPOSIUM	HS Pulmonary and Respiratory Medicine
2004	Trabalho em evento	PULMONARY FUNCTION TESTING IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE I S CANANI; Ana Cecília AZEVEDO; Ida Vanessa SCHWARTZ; A B JOHN; R B NOAL et al LYSOSOMAL DISEASE RESEARCH NETWORK SYMPOSIUM	HS General Medicine
2004	Trabalho em evento	ENZYMATIC ACTIVITIES IN DRIED-BLOOD FILTER PAPER SAMPLES FROM SOUTH-AMERICAN PATIENTS WITH INHERITED LYSOSOMAL STORAGE DISEASES G CIVALLERO; D CORREIA; H Pena COSTA; Kristiane MICHELIN; Ana Paula BEHEREGARAY et al LYSOSOMAL DISEASE RESEARCH NETWORK SYMPOSIUM	LS Biochemistry; Genetics and Molecular Biology (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 LYSOSOMAL DISEASE RESEARCH NETWORK SYMPOSIUM	HS Pharmacology (medical)
2004	Trabalho em evento	GAUCHER DISEASE IN BRAZIL: 412 CASES BIOCHEMICALLY DIAGNOSED Kristiane MICHELIN; Alessandro WAJNER; F T SOUZA; A S De MELLO; M G BURIN et al LYSOSOMAL DISEASE RESEARCH NETWORK SYMPOSIUM	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2004	Trabalho em evento	METACHROMATIC LEUKODYSTROPHY IN BRAZIL: PRELIMINARY RESULTS OF A SYSTEMATIC DIAGNOSIS PROTOCOL Maria Luiza Saraiva PEREIRA; M G BURIN; Ana Paula BEHEREGARAY; T BRESSEL; M C BELLARDINELI et al LYSOSOMAL DISEASE RESEARCH NETWORK SYMPOSIUM	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2004	Trabalho em evento	CEREBRAL INVOLVEMENT IN MUCOPOLYSACCHARIDOSIS TYPE II (MPS II): ASSOCIATION OF BRAIN MAGNETIC RESONANCE FINDINGS AND CLINICAL MANIFESTATIONS Louise Lapagesse De Camargo PINTO; L VEDOLIN; F GONÇALVES; A PIRES; Ida Vanessa SCHWARTZ et al LYSOSOMAL DISEASE RESEARCH NETWORK SYMPOSIUM	HS Medicine (miscellaneous)
2004	Trabalho em evento	PULMONARY FUNCTION IN 20 BRAZILIAN MUCOPOLYSACCHARIDOSIS TYPE II (MPS II/HUNTER SYNDROME) PATIENTS ASSESSED AT HOSPITAL DE CLINICAS DE PORTO ALEGRE; RS; BRAZIL Louise Lapagesse De Camargo PINTO; M A MOREIRA; Ida Vanessa SCHWARTZ; R BOY; I MONLLEO et al LYSOSOMAL DISEASE RESEARCH NETWORK SYMPOSIUM	HS Medicine (miscellaneous)
2004	Trabalho em evento	EAR-NOSE-THROAT FINDINGS IN MPS PATIENTS L P SCHMIDT; M M SMITH; L C FACCHINI; Louise Lapagesse De Camargo PINTO; Ida Vanessa SCHWARTZ et al LYSOSOMAL DISEASE RESEARCH NETWORK SYMPOSIUM	HS Medicine (miscellaneous)

2005 Artigo em periódico

HS Biochemistry (medical)

Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses

Journal of Inherited Metabolic Disease

S TOMATSU; M GUTIERREZ; T ISHIMARU; O PENA; A M MONTANO et al

ISSN 0141-8955

2005 Artigo em periódico

LS Clinical Biochemistry

Biochemical properties of beta-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers.

Clinica Chimica Acta

Kristiane MICHELIN; Alessandro WAJNER; H BOCK; R ROSENBERG; R F PIRES et al

DOI ISSN 0009-8981

2005 Artigo em periódico

LS Genetics

Mucopolysaccharidosis type VI: identification of novel mutations on the arylsulphatase B gene in South American patients

Journal of Inherited Metabolic Disease

M F G PETRY; K NONEMACHER; J C SEBBEN; Ida Vanessa SCHWARTZ; Ana Cecília AZEVEDO et al

DOI ISSN 0141-8955

2005 Artigo em periódico

HS Biochemistry (medical)

Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses

Journal of Inherited Metabolic Disease

S TOMATSU; K OKAMURA; H MAEDA; T TAKETANI; S V CASTRILLON et al

ISSN 0141-8955

2005 Artigo em periódico

LS Genetics

Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model

Journal of Inherited Metabolic Disease

M CAMASSOLA; L M BRAGA; A D CANEDO; T P DALBERTO; Ursula MATTE et al

DOI ISSN 0141-8955

2005 Artigo em periódico

HS Neurology (clinical)

3-hydroxyglutaric acid moderately impairs energy metabolism in brain of young rats

Neuroscience

A LATINI; M RODRIGUEZ; R Borba ROSA; K SCUSSIATO; G LEIPNITZ et al

DOI ISSN 0306-4522

2005 Artigo em periódico

HS Medicine (miscellaneous)

MPS Brazil Network: an alternative approach to improve diagnosis of metabolic disorders in developing countries

Journal Of Metabolism And Genetics

Roberto GIUGLIANI; Ida Vanessa SCHWARTZ

2005 Artigo em periódico

HS Genetics (clinical)

Threshold effect of urinary glucosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

American Journal of Medical Genetics

S J SWIEDLER; M BECK; M BAJBOUJ; Roberto GIUGLIANI; Ida Vanessa SCHWARTZ et al

DOI ISSN 0148-7299

2004 Capítulo de livro

PS Environmental Science (miscellaneous)

FREQUÊNCIAS DE DEFEITOS CONGÊNITOS EM REGIÃO CARBONÍFERA: UM ESTUDO NO RIO GRANDE DO SUL

CARVÃO E MEIO AMBIENTE

J C L LEITE; L SCHULER; E TATTO; C A MELO; A S NUNES et al

2004 Capítulo de livro

HS Medicine (miscellaneous)

TESTES POPULACIONAIS NA ERA DA MEDICINA GENÔMICA

MEDICINA GENÔMICA

Roberto GIUGLIANI; P ASHTONPROLLA

2004 Capítulo de livro

HS Medicine (miscellaneous)

ACONSELHAMENTO GENÉTICO NA ERA GENÔMICA

MEDICINA GENÔMICA

P ASHTONPROLLA; Roberto GIUGLIANI

2004 Capítulo de livro

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

FUNDAMENTOS DE TERAPIA GÊNICA

BIOSSEGURANÇA EM BIOTECNOLOGIA

Ursula MATTE; Roberto GIUGLIANI

2004 Trabalho em evento

LS Genetics

PHARMACOKINETIC PROFILE OF RECOMBINANT HUMAN N-ACETYLGALACTOSAMINE 4-SULFATASE (RHASB) ENZYME REPLACEMENT THERAPY IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS VI (MAROTEAUX-LAMY SINDROME)

ANNUAL MEETING SOCIETY FOR INHERITED METABOLIC DISEASES

P HARMATZ; C WHITLEY; R STEINER; B PLECKO; P KAPLAN et al

2004 Trabalho em evento

HS Endocrinology; Diabetes and Metabolism

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