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	Molecular analysis of phenylketonuria (PKU) patients in north Brazil Pedro Eduardo Bonfim FREITAS; Rita RIBEIRO; Andrea Ribeiro SANTOS; Maria PEREIRA; Roberto GIUGLIANI et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo Y Pesquisa neonatal	HS Genetics (clinical)
2007	Trabalho em evento	Biochemical and oxidative stress profiles in patients with maple syrup urine disease during dietary treatment Alethéa Gatto BARSCHAK; Angela SITTA; Marion DEON; Anelise CARVALHO; Christiane MARCHESAN et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Clinical Biochemistry
2007	Trabalho em evento	Detection of two common mutations in brazilian patients with GM1 gangliosidosis F Q MAYER; F PEREIRA; M GOLDIM; Ursula MATTE; Roberto GIUGLIANI VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Genetics
2007	Trabalho em evento	Comparison of the measurement of lysosomal hydrolase activity in mycoplasm-contaminated and non-contaminated human fibroblast cultures treated with mycoplasma removal agent. F T S SOUZA; Luana SOSTRUZNIK; Roberta SCOLARI; K CASTRO; 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	The effect produced by contamination with mycoplasm and the addition of the antimicrobial MRA in human fibroblast cultures on the measurement of acid hydrolase activity in patients with lysosomal diseases F T SOUZA; Luana SOSTRUZNIK; Roberta SCOLARI; K CASTRO; C VIEIRA et al VI Congresso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	HS Genetics (clinical)
2007	Trabalho em evento	Chitotriosidase thermal stability: comparison between Gaucher patients with and without enzymatic replacement therapy and normal individuals Alessandro WAJNER; Kristiane MICHELIN; Maira Graeff BURIN; Ricardo Flores PIRES; 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	Mucolipidosis II e III no Brasil: revisão de casos diagnosticados em um centro de referência Ida Vanessa SCHWARTZ; M S MEDEIROS; Andressa FEDERHEN; Maira Graeff BURIN; Janice Carneiro COELHO et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	HS Genetics (clinical)
2007	Trabalho em evento	Genomic analysis of GLA gene in two families with Fabry`s disease Fernanda Dos Santos PEREIRA; Cristina Brinckmann De Oliveira NETTO; Maira Graeff BURIN; Ursula MATTE; Roberto GIUGLIANI et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Genetics
2007	Trabalho em evento	Frequência da duplicação de 24PB no gene da quitotriosidase no Estado do Pará C M CRUZ; Erik ALVES; N S S CASTRO; Maria Luiza Saraiva PEREIRA; Roberto GIUGLIANI et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Genetics
2007	Trabalho em evento	Standardization and evaluation of arylsulfatase a enzyme activity in different organs of C57 - BL6 mice Bruna Doleys CARDOSO; Veronica LAGRANHA; Maria Luiza Saraiva PEREIRA; Ursula MATTE; Roberto GIUGLIANI et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	HS Genetics (clinical)
2007	Trabalho em evento	Biochemical diagnosis of Pompe`s disease in blood samples Maira Graeff BURIN; Marli VIAPIANA; Gabriel CIVALLERO; Janice Carneiro COELHO; María Verónica Rojas MUÑOZ et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Clinical Biochemistry
2007	Trabalho em evento	Screening for Fabry`s disease in patients on hemodialysis: prevalence and accuracy of the method performed in dried blood spots Marilyn TSAO; Maira Graeff BURIN; Michelin Tirelli K; Bitencourt FH; Daiana PORSCH et al VI congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2007	Trabalho em evento	Epidemiological; clinical and biochemical characteristics of the mucopolysaccharidoses in a northeast state of Brazil Erlane RIBEIRO; Silva C B; Fernando Henrique De Lima SÁ; Arruda Anderson PONTES; Roberto GIUGLIANI VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2007	Trabalho em evento	Transient non viral gene therapy for type I mucopolyssacaridosis in human skin fibroblasts Guilherme BALDO; Veronica LAGRANHA; Uribe C; Maira Graeff BURIN; Roberto GIUGLIANI VI Congreso Latinoamericano del Errores Innatos del Metabolismo y Pesquisa Neonatal	HS Medicine (miscellaneous)
2007	Trabalho em evento	Disabling spinal cord compression in MPS VI: familial recurrence and intrathecal enzyme replacement therapy María Verónica Rojas MUÑOZ; Dafne HOROVITZ; Taiane Alves VIEIRA; Ronaldo COSTA; Leonardo VEDOLIN et al VI Congreso Latinoamericano del Errores del Metabolismo y Pesquisa Neonatal	HS Medicine (miscellaneous)
2007	Trabalho em evento	Comportamento de GAGs urinários e sua correlação clínica em três pacientes com MPS I durante terapia de reposição enzimática irregular María Verónica Rojas MUÑOZ; Taiane Alves VIEIRA; Andressa FEDERHEN; Louise Lapagesse De Camargo PINTO; Katia LAZZARONI et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2007	Trabalho em evento	Searching for clinical and laboratory manifestations in carriers of MPS II (Hunter`s disease): preliminary results. Louise Lapagesse De Camargo PINTO; Ida Vanessa SCHWARTZ; Taiane Alves VIEIRA; María Verónica Rojas MUÑOZ; Leonardo VEDOLIN et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2007	Trabalho em evento	A longa trajetória do nascimento até o diagnóstico: um estudo em 113 pacientes brasileiros com mucopolissacaridose Taiane Alves VIEIRA; Ida Vanessa SCHWARTZ; María Verónica Rojas MUÑOZ; Louise Lapagesse De Camargo PINTO; Carlos STEINER et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	HS Medicine (miscellaneous)
2007	Trabalho em evento	Alta prevalência de mucopolissacaridose tipo VI no município de Monte Santo - Bahia - Nordeste do Brasil Angelina Xavier ACOSTA; Tatiana AMORIM; Eduardo CASTILLA; Gabriele GROSSI; Taiane Alves VIEIRA et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	HS Genetics (clinical)
2007	Trabalho em evento	MPS Brazil network helpline - call free information service on mucopolysaccharidoses F SILVA; Louise Lapagesse De Camargo PINTO; Andressa FEDERHEN; Celio Luiz RAFAELLI; 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	Molecular analysis of brazilian patients with Morquio A - MPS IV A Tatiana DIETER; T CARVALHO; Fernanda Dos Santos PEREIRA; Ursula MATTE; Roberto GIUGLIANI VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2007	Trabalho em evento	Mucopolysaccharidosis type VI and enzyme replacement therapy: case report of a brazilian patient L R GIULIANI; D PALHARES; Roberto GIUGLIANI VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	HS Genetics (clinical)
2007	Trabalho em evento	Analysis of frequent mutations in latin american patients with type I mucopolysaccharidosis F D B PESSUTTO; Fernanda Dos Santos PEREIRA; Ursula MATTE; Ida Vanessa SCHWARTZ; María Verónica Rojas MUÑOZ et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	HS Medicine (miscellaneous)
2007	Trabalho em evento	Differentiation of mesenchymal stem cells into hepatocyte-like cells using conditioned medium from the HEPG2 cell line. Uribe C; G R SANTOS; Guilherme BALDO; Maria Cristina Ramos BELARDINELLI; Roberto GIUGLIANI et al VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	LS Cell Biology
2007	Trabalho em evento	Production of encapsulated cells for use in gene therapy Veronica LAGRANHA; Guilherme BALDO; Roberto GIUGLIANI; Ursula MATTE VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal	HS Medicine (miscellaneous)

2007 Trabalho em evento

HS Genetics (clinical)

Molecular analysis of phenylketonuria (PKU) patients in north Brazil

VI Congreso Latinoamericano de Errores Innatos del Metabolismo Y Pesquisa neonatal

Pedro Eduardo Bonfim FREITAS; Rita RIBEIRO; Andrea Ribeiro SANTOS; Maria PEREIRA; Roberto GIUGLIANI et al

2007 Trabalho em evento

LS Clinical Biochemistry

Biochemical and oxidative stress profiles in patients with maple syrup urine disease during dietary treatment

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Alethéa Gatto BARSCHAK; Angela SITTA; Marion DEON; Anelise CARVALHO; Christiane MARCHESAN et al

2007 Trabalho em evento

LS Genetics

Detection of two common mutations in brazilian patients with GM1 gangliosidosis

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

F Q MAYER; F PEREIRA; M GOLDIM; Ursula MATTE; Roberto GIUGLIANI

2007 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Comparison of the measurement of lysosomal hydrolase activity in mycoplasm-contaminated and non-contaminated human fibroblast cultures treated with mycoplasma removal agent.

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

F T S SOUZA; Luana SOSTRUZNIK; Roberta SCOLARI; K CASTRO; Roberto GIUGLIANI et al

2007 Trabalho em evento

HS Genetics (clinical)

The effect produced by contamination with mycoplasm and the addition of the antimicrobial MRA in human fibroblast cultures on the measurement of acid hydrolase activity in patients with lysosomal diseases

VI Congresso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

F T SOUZA; Luana SOSTRUZNIK; Roberta SCOLARI; K CASTRO; C VIEIRA et al

2007 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Chitotriosidase thermal stability: comparison between Gaucher patients with and without enzymatic replacement therapy and normal individuals

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Alessandro WAJNER; Kristiane MICHELIN; Maira Graeff BURIN; Ricardo Flores PIRES; Roberto GIUGLIANI et al

2007 Trabalho em evento

HS Genetics (clinical)

Mucolipidosis II e III no Brasil: revisão de casos diagnosticados em um centro de referência

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Ida Vanessa SCHWARTZ; M S MEDEIROS; Andressa FEDERHEN; Maira Graeff BURIN; Janice Carneiro COELHO et al

2007 Trabalho em evento

LS Genetics

Genomic analysis of GLA gene in two families with Fabry`s disease

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Fernanda Dos Santos PEREIRA; Cristina Brinckmann De Oliveira NETTO; Maira Graeff BURIN; Ursula MATTE; Roberto GIUGLIANI et al

2007 Trabalho em evento

LS Genetics

Frequência da duplicação de 24PB no gene da quitotriosidase no Estado do Pará

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

C M CRUZ; Erik ALVES; N S S CASTRO; Maria Luiza Saraiva PEREIRA; Roberto GIUGLIANI et al

2007 Trabalho em evento

HS Genetics (clinical)

Standardization and evaluation of arylsulfatase a enzyme activity in different organs of C57 - BL6 mice

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Bruna Doleys CARDOSO; Veronica LAGRANHA; Maria Luiza Saraiva PEREIRA; Ursula MATTE; Roberto GIUGLIANI et al

2007 Trabalho em evento

LS Clinical Biochemistry

Biochemical diagnosis of Pompe`s disease in blood samples

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Maira Graeff BURIN; Marli VIAPIANA; Gabriel CIVALLERO; Janice Carneiro COELHO; María Verónica Rojas MUÑOZ et al

2007 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Screening for Fabry`s disease in patients on hemodialysis: prevalence and accuracy of the method performed in dried blood spots

VI congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Marilyn TSAO; Maira Graeff BURIN; Michelin Tirelli K; Bitencourt FH; Daiana PORSCH et al

2007 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Epidemiological; clinical and biochemical characteristics of the mucopolysaccharidoses in a northeast state of Brazil

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Erlane RIBEIRO; Silva C B; Fernando Henrique De Lima SÁ; Arruda Anderson PONTES; Roberto GIUGLIANI

2007 Trabalho em evento

HS Medicine (miscellaneous)

Transient non viral gene therapy for type I mucopolyssacaridosis in human skin fibroblasts

VI Congreso Latinoamericano del Errores Innatos del Metabolismo y Pesquisa Neonatal

Guilherme BALDO; Veronica LAGRANHA; Uribe C; Maira Graeff BURIN; Roberto GIUGLIANI

2007 Trabalho em evento

HS Medicine (miscellaneous)

Disabling spinal cord compression in MPS VI: familial recurrence and intrathecal enzyme replacement therapy

VI Congreso Latinoamericano del Errores del Metabolismo y Pesquisa Neonatal

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

2007 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Comportamento de GAGs urinários e sua correlação clínica em três pacientes com MPS I durante terapia de reposição enzimática irregular

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

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

2007 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Searching for clinical and laboratory manifestations in carriers of MPS II (Hunter`s disease): preliminary results.

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Louise Lapagesse De Camargo PINTO; Ida Vanessa SCHWARTZ; Taiane Alves VIEIRA; María Verónica Rojas MUÑOZ; Leonardo VEDOLIN et al

2007 Trabalho em evento

HS Medicine (miscellaneous)

A longa trajetória do nascimento até o diagnóstico: um estudo em 113 pacientes brasileiros com mucopolissacaridose

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Taiane Alves VIEIRA; Ida Vanessa SCHWARTZ; María Verónica Rojas MUÑOZ; Louise Lapagesse De Camargo PINTO; Carlos STEINER et al

2007 Trabalho em evento

HS Genetics (clinical)

Alta prevalência de mucopolissacaridose tipo VI no município de Monte Santo - Bahia - Nordeste do Brasil

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Angelina Xavier ACOSTA; Tatiana AMORIM; Eduardo CASTILLA; Gabriele GROSSI; Taiane Alves VIEIRA et al

2007 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

MPS Brazil network helpline - call free information service on mucopolysaccharidoses

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

F SILVA; Louise Lapagesse De Camargo PINTO; Andressa FEDERHEN; Celio Luiz RAFAELLI; Roberto GIUGLIANI et al

2007 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Molecular analysis of brazilian patients with Morquio A - MPS IV A

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Tatiana DIETER; T CARVALHO; Fernanda Dos Santos PEREIRA; Ursula MATTE; Roberto GIUGLIANI

2007 Trabalho em evento

HS Genetics (clinical)

Mucopolysaccharidosis type VI and enzyme replacement therapy: case report of a brazilian patient

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

L R GIULIANI; D PALHARES; Roberto GIUGLIANI

2007 Trabalho em evento

HS Medicine (miscellaneous)

Analysis of frequent mutations in latin american patients with type I mucopolysaccharidosis

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

F D B PESSUTTO; Fernanda Dos Santos PEREIRA; Ursula MATTE; Ida Vanessa SCHWARTZ; María Verónica Rojas MUÑOZ et al

2007 Trabalho em evento

LS Cell Biology

Differentiation of mesenchymal stem cells into hepatocyte-like cells using conditioned medium from the HEPG2 cell line.

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Uribe C; G R SANTOS; Guilherme BALDO; Maria Cristina Ramos BELARDINELLI; Roberto GIUGLIANI et al

2007 Trabalho em evento

HS Medicine (miscellaneous)

Production of encapsulated cells for use in gene therapy

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Veronica LAGRANHA; Guilherme BALDO; Roberto GIUGLIANI; Ursula MATTE