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
2008	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; M C BORTOLINI; Roberto GIUGLIANI; Patrícia Ashton PROLLA et al Arquivos de Gastroenterologia ISSN 0004-2803	HS Psychiatry and Mental Health
2008	Artigo em periódico	Alder-reilly anomaly in patients with mucopolysaccharidosis VI Taiane Alves VIEIRA; Ida Vanessa SCHWARTZ; C F M De SOUZA; Ana Cecília AZEVEDO; Louise Lapagesse De Camargo PINTO et al Revista do HCPA & Faculdade de Medicina da Universidade Federal do Rio Grande do Sul ISSN 0101-5575	HS Medicine (miscellaneous)
2008	Artigo em periódico	Clinical and Molecular Characterization of Patients at Risk for Hereditary Melanoma in Southern Brazil Patrícia Ashton PROLLA; L BAKOS; G JUNQUEIRA; Roberto GIUGLIANI; Sérgio J AZEVEDO et al Journal of Investigative Dermatology DOI 10.1038/SJ.JID.5701030 ISSN 0022-202X	HS Infectious Diseases
2008	Artigo em periódico	Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome) R MARTIN; Michael BECK; C ENG; Roberto GIUGLIANI; P HARMATZ et al Pediatrics (Evanston) DOI 10.1542/peds.2007-1350 ISSN 0031-4005	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2008	Artigo em periódico	A prospective; cross-sectional survey study o the natural history of Niemann-Pick B disease M M MCGOVERN; M WASSERSTEIN; Roberto GIUGLIANI; B BEMBI; M VANIER et al Pediatrics (Evanston) DOI 10.1542/peds.2007-3016 ISSN 0031-4005	HS Pediatrics; Perinatology and Child Health
2008	Artigo em periódico	Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression María Verónica Rojas MUÑOZ; Taiane Alves VIEIRA; Ronaldo COSTA; Simone CANANI; Angela JOHN et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.32294 ISSN 1552-4825	LS Genetics
2008	Artigo em periódico	Maple syrup urine disease in treated patients: biochemical and oxidative stress profiles. Alethéa Gatto BARSCHAK; Christiane MARCHESAN; Angela SITTA; Marion DEON; Roberto GIUGLIANI et al Clinical Biochemistry ISSN 0009-9120	LS Clinical Biochemistry
2008	Artigo em periódico	In vitro correction of ARSA deficiency in human skin fibroblasts from Metachromatic Leukodystrophy patients after treatment with microencapsulated recombinant cells. Valeska LAGRANHA; Guilherme BALDO; T CARVALHO; Maira Graeff BURIN; Maria Luiza Saraiva PEREIRA et al Metabolic Brain Disease ISSN 0885-7490	HS Medicine (miscellaneous)
2008	Artigo em periódico	Prenatal diagnosis for fetal chromosomal abnormalities: report of an 18 years experience in a Brazilian public hospital. Rejane GUS; Maria Tereza Vieira SANSEVERINO; Sandra Leistner SEGAL; J A A MAGALHÃES; Roberto GIUGLIANI Genetics and Molecular Biology ISSN 1415-4757	LS Genetics
2008	Artigo em periódico	Fabry disease in hemodialysis patients in Southern Brazil: prevalence study and clinical report Daiana PORSCH; A C F NUNES; VAGNER; L B ROSSATO; C B MATTOS et al Renal Failure DOI 10.1080/08860220802353777 ISSN 0886-022X	HS Nephrology
2008	Artigo em periódico	Genetics: an essential tool for the pediatrician of the 21st century Nunes Magda LAHORGUE; Roberto GIUGLIANI Jornal de Pediatria DOI 10.2223/JPED.1827 ISSN 0021-7557	HS Pediatrics
2008	Artigo em periódico	Treatment of inborn errors of metabolism Ida Vanessa SCHWARTZ; C F Moura E SOUZA; Roberto GIUGLIANI Jama. Pediatria (Rio de Janeiro) ISSN 1414-0470	HS Genetics (clinical)
2008	Artigo em periódico	The polymorphism of the serotonin-2A receptor T102C is associated with age. P F JOBIM; P A Prado LIMA; C H SCHWANKE; Roberto GIUGLIANI; Ivana Beatrice Manica Da CRUZ Brazilian Journal of Medical and Biological Research ISSN 0100-879X	HS Genetics (clinical)
2008	Artigo em periódico	A Brazilian galactosialidosis patient given renal transplantation: a case report Andrea KISS; P ZEN; V BITTENCOURT; G A PASKULIN; Roberto GIUGLIANI et al Journal of Inherited Metabolic Disease ISSN 0141-8955	HS Genetics (clinical)
2008	Artigo em periódico	Initial report from the Hunter Outcome Survey J E WRAITH; Michael BECK; Roberto GIUGLIANI; J CLARKE; R MARTIN et al Genetics in Medicine ISSN 1098-3600	HS Genetics (clinical)
2008	Artigo em periódico	Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase P HARMATZ; Giugliani R; Dschwartz I; N GUFFON; E TELES et al Molecular Genetics and Metabolism DOI 10.1016/j.ymgme.2008.04.001 ISSN 1096-7192	LS Genetics
2008	Artigo em periódico	Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength A Cardoso SANTOS; Ana Cecília AZEVEDO; Simone FAGONDES; Maira Graeff BURIN; Roberto GIUGLIANI et al Jama. Pediatria (Rio de Janeiro) ISSN 1414-0470	HS Pediatrics; Perinatology and Child Health
2008	Artigo em periódico	Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy Marion DEON; Ângela SITTA; Alethéa Gatto BARSCHAK; Daniela De Moura COELHO; Thatiana TERROSO et al Neurological Sciences ISSN 1590-1874	LS Neuroscience (miscellaneous)
2008	Artigo em periódico	Microsatellite instability testing in genetically heterogeneous populations Silvia COSSIO; Patrícia Ashton PROLLA; Maria Cátira BORTOLINI; Renata Dos Santos COURA; Roberto GIUGLIANI et al Journal of Clinical Oncology ISSN 0732-183X	LS Immunology and Microbiology (miscellaneous)
2008	Artigo em periódico	Hexacosanoic and docosanoic acids plasma levels in patientes with cerebral childhood and asymptomatic X-linked adrenoleukodystrophy: Lorenzo`s oil Marion DEON; Ângela SITTA; Alethéa Gatto BARSCHAK; Daniela De Moura COELHO; G O SCHMIT et al Metabolic Brain Disease ISSN 0885-7490	HS Genetics (clinical)
2008	Artigo em periódico	Adult derived mononuclear bone marrow cells improve survival in a model of acetaminophen-induced liver failure in rats. Maria Cristina Ramos BELARDINELLI; Fernanda Dos Santos PEREIRA; Guilherme BALDO; Angela Maria Vicente TAVARES; Christian KIELING et al Toxicology ISSN 0300-483X	LS Cell Biology
2007	Capítulo de livro	Testes de triagem para doenças metabólicas no recém-nascido. Ida Vanessa SCHWARTZ; Carolina SOUZA; Paula VARGAS; Roberto GIUGLIANI Programa de Educação em Neonatologia ISBN 1679-4737	HS Medicine (miscellaneous)
2007	Capítulo de livro	Erros Inatos do Metabolismo Carolina SOUZA; Ida Vanessa SCHWARTZ; Cristina Brinckmann De Oliveira NETTO; Roberto GIUGLIANI Diagnóstico e Tratamento ISBN 978-85-204-24	HS Pediatrics; Perinatology and Child Health
2007	Capítulo de livro	Terapia Gênica em Doenças Metabólicas Roberto GIUGLIANI; N B NARDI; Ursula MATTE; J A B CHIES Terapias avançadas - Células-tronco; Terapia Gênica e Nanotecnologia Aplicada à Saúde ISBN 978-85-7379-9	HS Medicine (miscellaneous)
2007	Trabalho em evento	Terapia de reposição intratecal em um paciente com mucopolissacaridosetipo I: desfechos respiratórios F C FAGONDES; Angela JOHN; C PERIN; Taiane Alves VIEIRA; María Verónica Rojas MUÑOZ et al Congresso de Pneumologia da Região Sul ISBN 18063713	HS Pulmonary and Respiratory Medicine

2008 Artigo em periódico

HS Psychiatry and Mental Health

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; M C BORTOLINI; Roberto GIUGLIANI; Patrícia Ashton PROLLA et al

ISSN 0004-2803

2008 Artigo em periódico

HS Medicine (miscellaneous)

Alder-reilly anomaly in patients with mucopolysaccharidosis VI

Revista do HCPA & Faculdade de Medicina da Universidade Federal do Rio Grande do Sul

Taiane Alves VIEIRA; Ida Vanessa SCHWARTZ; C F M De SOUZA; Ana Cecília AZEVEDO; Louise Lapagesse De Camargo PINTO et al

ISSN 0101-5575

2008 Artigo em periódico

HS Infectious Diseases

Clinical and Molecular Characterization of Patients at Risk for Hereditary Melanoma in Southern Brazil

Journal of Investigative Dermatology

Patrícia Ashton PROLLA; L BAKOS; G JUNQUEIRA; Roberto GIUGLIANI; Sérgio J AZEVEDO et al

DOI ISSN 0022-202X

2008 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)

Pediatrics (Evanston)

R MARTIN; Michael BECK; C ENG; Roberto GIUGLIANI; P HARMATZ et al

DOI ISSN 0031-4005

2008 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

A prospective; cross-sectional survey study o the natural history of Niemann-Pick B disease

Pediatrics (Evanston)

M M MCGOVERN; M WASSERSTEIN; Roberto GIUGLIANI; B BEMBI; M VANIER et al

DOI ISSN 0031-4005

2008 Artigo em periódico

LS Genetics

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression

American Journal of Medical Genetics. Part A

María Verónica Rojas MUÑOZ; Taiane Alves VIEIRA; Ronaldo COSTA; Simone CANANI; Angela JOHN et al

DOI ISSN 1552-4825

2008 Artigo em periódico

LS Clinical Biochemistry

Maple syrup urine disease in treated patients: biochemical and oxidative stress profiles.

Clinical Biochemistry

Alethéa Gatto BARSCHAK; Christiane MARCHESAN; Angela SITTA; Marion DEON; Roberto GIUGLIANI et al

ISSN 0009-9120

2008 Artigo em periódico

HS Medicine (miscellaneous)

In vitro correction of ARSA deficiency in human skin fibroblasts from Metachromatic Leukodystrophy patients after treatment with microencapsulated recombinant cells.

Metabolic Brain Disease

Valeska LAGRANHA; Guilherme BALDO; T CARVALHO; Maira Graeff BURIN; Maria Luiza Saraiva PEREIRA et al

ISSN 0885-7490

2008 Artigo em periódico

LS Genetics

Prenatal diagnosis for fetal chromosomal abnormalities: report of an 18 years experience in a Brazilian public hospital.

Genetics and Molecular Biology

Rejane GUS; Maria Tereza Vieira SANSEVERINO; Sandra Leistner SEGAL; J A A MAGALHÃES; Roberto GIUGLIANI

ISSN 1415-4757

2008 Artigo em periódico

HS Nephrology

Fabry disease in hemodialysis patients in Southern Brazil: prevalence study and clinical report

Renal Failure

Daiana PORSCH; A C F NUNES; VAGNER; L B ROSSATO; C B MATTOS et al

DOI ISSN 0886-022X

2008 Artigo em periódico

HS Pediatrics

Genetics: an essential tool for the pediatrician of the 21st century

Jornal de Pediatria

Nunes Magda LAHORGUE; Roberto GIUGLIANI

DOI ISSN 0021-7557

2008 Artigo em periódico

HS Genetics (clinical)

Treatment of inborn errors of metabolism

Jama. Pediatria (Rio de Janeiro)

Ida Vanessa SCHWARTZ; C F Moura E SOUZA; Roberto GIUGLIANI

ISSN 1414-0470

2008 Artigo em periódico

HS Genetics (clinical)

The polymorphism of the serotonin-2A receptor T102C is associated with age.

Brazilian Journal of Medical and Biological Research

P F JOBIM; P A Prado LIMA; C H SCHWANKE; Roberto GIUGLIANI; Ivana Beatrice Manica Da CRUZ

ISSN 0100-879X

2008 Artigo em periódico

HS Genetics (clinical)

A Brazilian galactosialidosis patient given renal transplantation: a case report

Journal of Inherited Metabolic Disease

Andrea KISS; P ZEN; V BITTENCOURT; G A PASKULIN; Roberto GIUGLIANI et al

ISSN 0141-8955

2008 Artigo em periódico

HS Genetics (clinical)

Initial report from the Hunter Outcome Survey

Genetics in Medicine

J E WRAITH; Michael BECK; Roberto GIUGLIANI; J CLARKE; R MARTIN et al

ISSN 1098-3600

2008 Artigo em periódico

LS Genetics

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

Molecular Genetics and Metabolism

P HARMATZ; Giugliani R; Dschwartz I; N GUFFON; E TELES et al

DOI ISSN 1096-7192

2008 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength

Jama. Pediatria (Rio de Janeiro)

A Cardoso SANTOS; Ana Cecília AZEVEDO; Simone FAGONDES; Maira Graeff BURIN; Roberto GIUGLIANI et al

ISSN 1414-0470

2008 Artigo em periódico

LS Neuroscience (miscellaneous)

Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy

Neurological Sciences

Marion DEON; Ângela SITTA; Alethéa Gatto BARSCHAK; Daniela De Moura COELHO; Thatiana TERROSO et al

ISSN 1590-1874

2008 Artigo em periódico

LS Immunology and Microbiology (miscellaneous)

Microsatellite instability testing in genetically heterogeneous populations

Journal of Clinical Oncology

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

ISSN 0732-183X

2008 Artigo em periódico

HS Genetics (clinical)

Hexacosanoic and docosanoic acids plasma levels in patientes with cerebral childhood and asymptomatic X-linked adrenoleukodystrophy: Lorenzo`s oil

Metabolic Brain Disease

Marion DEON; Ângela SITTA; Alethéa Gatto BARSCHAK; Daniela De Moura COELHO; G O SCHMIT et al

ISSN 0885-7490

2008 Artigo em periódico

LS Cell Biology

Adult derived mononuclear bone marrow cells improve survival in a model of acetaminophen-induced liver failure in rats.

Toxicology

Maria Cristina Ramos BELARDINELLI; Fernanda Dos Santos PEREIRA; Guilherme BALDO; Angela Maria Vicente TAVARES; Christian KIELING et al

ISSN 0300-483X

2007 Capítulo de livro

HS Medicine (miscellaneous)

Testes de triagem para doenças metabólicas no recém-nascido.

Programa de Educação em Neonatologia

Ida Vanessa SCHWARTZ; Carolina SOUZA; Paula VARGAS; Roberto GIUGLIANI

ISBN 1679-4737

2007 Capítulo de livro

HS Pediatrics; Perinatology and Child Health

Erros Inatos do Metabolismo

Diagnóstico e Tratamento

Carolina SOUZA; Ida Vanessa SCHWARTZ; Cristina Brinckmann De Oliveira NETTO; Roberto GIUGLIANI

ISBN 978-85-204-24

2007 Capítulo de livro

HS Medicine (miscellaneous)

Terapia Gênica em Doenças Metabólicas

Terapias avançadas - Células-tronco; Terapia Gênica e Nanotecnologia Aplicada à Saúde

Roberto GIUGLIANI; N B NARDI; Ursula MATTE; J A B CHIES

ISBN 978-85-7379-9

2007 Trabalho em evento

HS Pulmonary and Respiratory Medicine

Terapia de reposição intratecal em um paciente com mucopolissacaridosetipo I: desfechos respiratórios

Congresso de Pneumologia da Região Sul

F C FAGONDES; Angela JOHN; C PERIN; Taiane Alves VIEIRA; María Verónica Rojas MUÑOZ et al

ISBN 18063713