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	MPS-Brazil Network:a country wide initiative to improve diagnosis and management of mucopolysaccharidoses in Brazil Ida Vanessa SCHWARTZ; Andressa FEDERHEN; Celio Luiz RAFAELLI; Louise Lapagesse De Camargo PINTO; Maira Graeff BURIN et al 7th International Symposium on Lysosomal Storage Diseases	HS Genetics (clinical)
2007	Trabalho em evento	Intrathecal enzyme therapy outcome in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression: follow-up after one year María Verónica Rojas MUÑOZ; Simone CANANI; Angela JOHN; Laura Bannach JARDIM; VEDOLIN et al 7th International Symposium on Lysosomal Storage Diseases	HS Medicine (miscellaneous)
2007	Trabalho em evento	Biochemical and/or molecularly confirmed GBA mutations carriers among Parkinson patients Mariana SOCAL; Kristiane MICHELIN; Maria Luiza Saraiva PEREIRA; Hugo BOCK; Roberto GIUGLIANI et al 7th International Symposium on Lysosomal Storage Diseases	LS Genetics
2007	Trabalho em evento	Mucolipidosis II and III in Brazil: a review of the cases diagnosed by a reference center Ida Vanessa SCHWARTZ; Medeiros M S; Andressa FEDERHEN; Maira Graeff BURIN; Janice Carneiro COELHO et al 7th International symposium on lysosomal storage diseases	LS Genetics
2007	Trabalho em evento	Achados neurorradiológicos das doenças lisossômicas Komlos M; Leonardo VEDOLIN; Ida Vanessa SCHWARTZ; Roberto GIUGLIANI 37a. Jornada Paulista de Radiologia	HS Radiology; Nuclear Medicine and Imaging
2007	Trabalho em evento	Analysis of metabolic disorders diagnosed by the service of information on inborn errors of metabolism (SIEM) Carolina SOUZA; Silvia BRUSTOLIN; Cristina Brinckmann De Oliveira NETTO; Maria Tereza Vieira SANSEVERINO; Silvani HERBER et al 3rd. International conference on Birth Defects and Disabilities in the Developing World	HS Medicine (miscellaneous)
2007	Trabalho em evento	MPS - Brasil Network: a country wide initiative to improve diagnosis and management of mucopolysaccharidoses in Brazil Roberto GIUGLIANI; Ida Vanessa SCHWARTZ; Andressa FEDERHEN; Celio Luiz RAFAELLI; Louise Lapagesse De Camargo PINTO et al 3rd. International Conference on Birth Defects and Disabilities in the Developing World	HS Medicine (miscellaneous)
2007	Trabalho em evento	Bone marrow cells improve survival in a rat model of acute liver failure Maria Cristina Ramos BELARDINELLI; Fernanda Dos Santos PEREIRA; Guilherme BALDO; C KIELING; T R SILVEIRA et al 3rd. International Conference on Birth Defects and Disabilities in the Developing World	LS Cell Biology
2007	Trabalho em evento	Niemann-Pick C variant: a case report of a new mutation Angelina Xavier ACOSTA; Maria Betania PEREIRA; Freitas L; Milan ELLEDER; Laura FONTES et al 3rd. International Conference on Birth Defects and Disabilities in the Developing World	HS Medicine (miscellaneous)
2007	Trabalho em evento	Gentamicin restores the enzimatic activity in nonsense mutations from patients with MPS I and GMI Cristina KATH; Roberto GIUGLIANI 3rd International Conference on Birth Defects and Disabilities in the Developing World	HS Medicine (miscellaneous)
2007	Trabalho em evento	Intrathecal enzyme replacement therapy: a promising new approach in symptomatic spinal cord compression management in mucopolysaccharidosis I. María Verónica Rojas MUÑOZ; R COSTA; L JARDIM; Taiane Alves VIEIRA; Leonardo VEDOLIN et al 3rd. International Conference on Birth Defects and Disabilities in the Developing World	HS Medicine (miscellaneous)
2007	Trabalho em evento	High prevalence of mucopolysaccharidosis VI in a northeastern brazilian town Angelina Xavier ACOSTA; Tatiana AMORIM; Eduardo CASTILLA; Gabriele GROSSI; Taiane Alves VIEIRA et al 3rd International Conference on Birth Defects and Disabilities in the Developing World	HS Medicine (miscellaneous)
2007	Trabalho em evento	Frequency of 24pb duplication in gene of chitotriosidase at the population of parastate C M CRUZ; E A C ALVES; N Serrão De CASTRO; Maria Luiza Saraiva PEREIRA; Roberto GIUGLIANI et al 3rd International Conference on Birth Defects and Disabilities in the Developing World	HS Medicine (miscellaneous)
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 3rd. International Conference on Birth Defects and Disabilities in the Developing World	HS Medicine (miscellaneous)
2007	Trabalho em evento	Karyotype results in 305 cases of miscarriage in a brazilian population M SCHNEIDER; C CASTILHOS; L E DORFMAN; Mahler C; Maus S P et al 3rd International Conference on Birth Defects and Disabilities in the Developing World	HS Medicine (miscellaneous)
2007	Trabalho em evento	Spontaneous Regression of a central nervous system tumor in neurofibromatosis type 1:case report Denise ZANDONÁ; VEDOLIN; Roberto GIUGLIANI 3rd. International Conference on Birth Defects and Disabilities in the Developing World	HS Medicine (miscellaneous)
2007	Trabalho em evento	Detection of R337H; a germline mutation predisposing to multiple cancers; in asymptomatic women participating in a breast cancer screening programme in southern Brazil Edenir PALMERO; Maira CALEFFI; Maria Isabel ACHATZ; Ghyslaine MARTELPLANCHE; Virginie MARCEL et al 3rd. International Conference on Birth Defects and disabilities in the Developing World	HS Medicine (miscellaneous)
2007	Trabalho em evento	Optic nerve enlargment as an early sign of Krabbe Disease Louise Lapagesse De Camargo PINTO; Osvaldo ARTIGALÁS; Hector WANDERLEY; VEDOLIN; Maira BURIN et al 3rd. International Conference on Birth Defects and Disabilities in the Developing World	HS Genetics (clinical)
2007	Trabalho em evento	Service of information on inborn errors of metabolisdm (SIEM): results of 5 years of a pionerring metabolism call free service in Brazil (0800-5102858) Silvia BRUSTOLIN; Carolina SOUZA; Cristina Brinckmann De Oliveira NETTO; Maria Tereza Vieira SANSEVERINO; Silvani HERBER et al 3rd International Conference on Birth Defects and Disabilities in the Developing World	HS Genetics (clinical)
2007	Trabalho em evento	The Hunter outcome survey (HOS): baseline observations in patients with mucopolysaccharidosis Type II. Roberto GIUGLIANI; Louise Lapagesse De Camargo PINTO; Ida Vanessa SCHWARTZ; María Verónica Rojas MUÑOZ; Taiane Alves VIEIRA et al 3rd International Conference on Birth Defects and Disabilities in the Developing World	HS Genetics (clinical)
2007	Trabalho em evento	The Hunter Outcome Survey (HOS): clinical characteristics of patients with mucopolysaccharidosis type II J E WRAITH; M BECK; Roberto GIUGLIANI; B K BOURTON; Demeirleir L et al European Symposium of Human Genetics	HS Genetics (clinical)
2007	Trabalho em evento	Brazilian Information Service on Inborn Errors of Metabolism (SIEM): results of first thousand cases C F Moura E SOUZA; Cristina Brinckmann De Oliveira NETTO; Maria Tereza Vieira SANSEVERINO; Silvani HERBER; Celio Luiz RAFAELLI et al Journal of Inherited Metabolic Diseases	HS Genetics (clinical)
2007	Trabalho em evento	Oxidative stress in maple syrup urine disease: antioxidant enzyme activities and selenium levels Alethéa Gatto BARSCHAK; Angela SITTA; Marion DEON; G O SCHMIT; M C PIGATTO et al Journal of Inherited Metabolic Disease	HS Genetics (clinical)
2007	Trabalho em evento	Hydroxy-3-methylglutaric aciduria: report of 15 brazilian patients Angela SITTA; Alethéa Gatto BARSCHAK; Marion DEON; G O SCHMIT; G C FERREIRA et al Journal of Inherited Metabolic Disease	HS Genetics (clinical)
2007	Trabalho em evento	Lipoperoxidation is induced in female carriers of X-linked adrenoleukodystrophy Marion DEON; Angela SITTA; Alethéa Gatto BARSCHAK; T TERROSO; Maiara PIGATTO et al Journal of Inherited Metabolic Diseases	HS Medicine (miscellaneous)

2007 Trabalho em evento

HS Genetics (clinical)

MPS-Brazil Network:a country wide initiative to improve diagnosis and management of mucopolysaccharidoses in Brazil

7th International Symposium on Lysosomal Storage Diseases

Ida Vanessa SCHWARTZ; Andressa FEDERHEN; Celio Luiz RAFAELLI; Louise Lapagesse De Camargo PINTO; Maira Graeff BURIN et al

2007 Trabalho em evento

HS Medicine (miscellaneous)

Intrathecal enzyme therapy outcome in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression: follow-up after one year

7th International Symposium on Lysosomal Storage Diseases

María Verónica Rojas MUÑOZ; Simone CANANI; Angela JOHN; Laura Bannach JARDIM; VEDOLIN et al

2007 Trabalho em evento

LS Genetics

Biochemical and/or molecularly confirmed GBA mutations carriers among Parkinson patients

7th International Symposium on Lysosomal Storage Diseases

Mariana SOCAL; Kristiane MICHELIN; Maria Luiza Saraiva PEREIRA; Hugo BOCK; Roberto GIUGLIANI et al

2007 Trabalho em evento

LS Genetics

Mucolipidosis II and III in Brazil: a review of the cases diagnosed by a reference center

7th International symposium on lysosomal storage diseases

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

2007 Trabalho em evento

HS Radiology; Nuclear Medicine and Imaging

Achados neurorradiológicos das doenças lisossômicas

37a. Jornada Paulista de Radiologia

Komlos M; Leonardo VEDOLIN; Ida Vanessa SCHWARTZ; Roberto GIUGLIANI

2007 Trabalho em evento

HS Medicine (miscellaneous)

Analysis of metabolic disorders diagnosed by the service of information on inborn errors of metabolism (SIEM)

3rd. International conference on Birth Defects and Disabilities in the Developing World

Carolina SOUZA; Silvia BRUSTOLIN; Cristina Brinckmann De Oliveira NETTO; Maria Tereza Vieira SANSEVERINO; Silvani HERBER et al

2007 Trabalho em evento

HS Medicine (miscellaneous)

MPS - Brasil Network: a country wide initiative to improve diagnosis and management of mucopolysaccharidoses in Brazil

3rd. International Conference on Birth Defects and Disabilities in the Developing World

Roberto GIUGLIANI; Ida Vanessa SCHWARTZ; Andressa FEDERHEN; Celio Luiz RAFAELLI; Louise Lapagesse De Camargo PINTO et al

2007 Trabalho em evento

LS Cell Biology

Bone marrow cells improve survival in a rat model of acute liver failure

3rd. International Conference on Birth Defects and Disabilities in the Developing World

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

2007 Trabalho em evento

HS Medicine (miscellaneous)

Niemann-Pick C variant: a case report of a new mutation

3rd. International Conference on Birth Defects and Disabilities in the Developing World

Angelina Xavier ACOSTA; Maria Betania PEREIRA; Freitas L; Milan ELLEDER; Laura FONTES et al

2007 Trabalho em evento

HS Medicine (miscellaneous)

Gentamicin restores the enzimatic activity in nonsense mutations from patients with MPS I and GMI

3rd International Conference on Birth Defects and Disabilities in the Developing World

Cristina KATH; Roberto GIUGLIANI

2007 Trabalho em evento

HS Medicine (miscellaneous)

Intrathecal enzyme replacement therapy: a promising new approach in symptomatic spinal cord compression management in mucopolysaccharidosis I.

3rd. International Conference on Birth Defects and Disabilities in the Developing World

María Verónica Rojas MUÑOZ; R COSTA; L JARDIM; Taiane Alves VIEIRA; Leonardo VEDOLIN et al

2007 Trabalho em evento

HS Medicine (miscellaneous)

High prevalence of mucopolysaccharidosis VI in a northeastern brazilian town

3rd International Conference on Birth Defects and Disabilities in the Developing World

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

2007 Trabalho em evento

HS Medicine (miscellaneous)

Frequency of 24pb duplication in gene of chitotriosidase at the population of parastate

3rd International Conference on Birth Defects and Disabilities in the Developing World

C M CRUZ; E A C ALVES; N Serrão De CASTRO; Maria Luiza Saraiva PEREIRA; Roberto GIUGLIANI et al

2007 Trabalho em evento

HS Medicine (miscellaneous)

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

3rd. International Conference on Birth Defects and Disabilities in the Developing World

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

2007 Trabalho em evento

HS Medicine (miscellaneous)

Karyotype results in 305 cases of miscarriage in a brazilian population

3rd International Conference on Birth Defects and Disabilities in the Developing World

M SCHNEIDER; C CASTILHOS; L E DORFMAN; Mahler C; Maus S P et al

2007 Trabalho em evento

HS Medicine (miscellaneous)

Spontaneous Regression of a central nervous system tumor in neurofibromatosis type 1:case report

3rd. International Conference on Birth Defects and Disabilities in the Developing World

Denise ZANDONÁ; VEDOLIN; Roberto GIUGLIANI

2007 Trabalho em evento

HS Medicine (miscellaneous)

Detection of R337H; a germline mutation predisposing to multiple cancers; in asymptomatic women participating in a breast cancer screening programme in southern Brazil

3rd. International Conference on Birth Defects and disabilities in the Developing World

Edenir PALMERO; Maira CALEFFI; Maria Isabel ACHATZ; Ghyslaine MARTELPLANCHE; Virginie MARCEL et al

2007 Trabalho em evento

HS Genetics (clinical)

Optic nerve enlargment as an early sign of Krabbe Disease

3rd. International Conference on Birth Defects and Disabilities in the Developing World

Louise Lapagesse De Camargo PINTO; Osvaldo ARTIGALÁS; Hector WANDERLEY; VEDOLIN; Maira BURIN et al

2007 Trabalho em evento

HS Genetics (clinical)

Service of information on inborn errors of metabolisdm (SIEM): results of 5 years of a pionerring metabolism call free service in Brazil (0800-5102858)

3rd International Conference on Birth Defects and Disabilities in the Developing World

Silvia BRUSTOLIN; Carolina SOUZA; Cristina Brinckmann De Oliveira NETTO; Maria Tereza Vieira SANSEVERINO; Silvani HERBER et al

2007 Trabalho em evento

HS Genetics (clinical)

The Hunter outcome survey (HOS): baseline observations in patients with mucopolysaccharidosis Type II.

3rd International Conference on Birth Defects and Disabilities in the Developing World

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

2007 Trabalho em evento

HS Genetics (clinical)

The Hunter Outcome Survey (HOS): clinical characteristics of patients with mucopolysaccharidosis type II

European Symposium of Human Genetics

J E WRAITH; M BECK; Roberto GIUGLIANI; B K BOURTON; Demeirleir L et al

2007 Trabalho em evento

HS Genetics (clinical)

Brazilian Information Service on Inborn Errors of Metabolism (SIEM): results of first thousand cases

Journal of Inherited Metabolic Diseases

C F Moura E SOUZA; Cristina Brinckmann De Oliveira NETTO; Maria Tereza Vieira SANSEVERINO; Silvani HERBER; Celio Luiz RAFAELLI et al

2007 Trabalho em evento

HS Genetics (clinical)

Oxidative stress in maple syrup urine disease: antioxidant enzyme activities and selenium levels

Journal of Inherited Metabolic Disease

Alethéa Gatto BARSCHAK; Angela SITTA; Marion DEON; G O SCHMIT; M C PIGATTO et al

2007 Trabalho em evento

HS Genetics (clinical)

Hydroxy-3-methylglutaric aciduria: report of 15 brazilian patients

Journal of Inherited Metabolic Disease

Angela SITTA; Alethéa Gatto BARSCHAK; Marion DEON; G O SCHMIT; G C FERREIRA et al

2007 Trabalho em evento

HS Medicine (miscellaneous)

Lipoperoxidation is induced in female carriers of X-linked adrenoleukodystrophy

Journal of Inherited Metabolic Diseases

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