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
2011	Artigo em periódico	Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil Costa Motta Fabiana MOURA; Angelina Xavier ACOSTA; Abé Sandes KIYOKO; Bender FERNANDA; Schwartz Ida Vanessa D et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2011.09.017 ISSN 1096-7192	LS Genetics
2011	Artigo em periódico	Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency Nalin TATIÉLE; Perry Ingrid Dalira SCHWEIGERT; Angela SITTA; Carmen Regla VARGAS; Saraiva Pereira Maria LUIZA et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2011.09.019 ISSN 1096-7192	HS Genetics (clinical)
2011	Artigo em periódico	Prevalence of the BRCA1 founder mutation c.5266dup in Brazilian individuals at-risk for the Hereditary Breast and Ovarian Cancer Syndrome Ewald Ingrid P; Izetti Patricia R; Vargas Fernando R; Moreira Miguel A M; Moreira Aline S et al Hereditary Cancer in Clinical Practice (Online) DOI 10.1186/1897-4287-9-12 ISSN 1897-4287	HS Genetics (clinical)
2011	Artigo em periódico	Cardiac disease in patients with mucopolysaccharidosis: presentation; diagnosis and management Braunlin Elizabeth A; Harmatz Paul R; Scarpa MAURIZIO; Furlanetto BEATRIZ; Kampmann CHRISTOPH et al Journal of Inherited Metabolic Disease DOI 10.1007/s10545-011-9359-8 ISSN 0141-8955	HS Genetics (clinical)
2011	Artigo em periódico	Glucose-6-phosphate-dehydrogenase deficiency and its correlation with other risk factors in jaundiced newborns in Southern Brazil Clarissa Gutiérrez CARVALHO; Clarissa Gutiérrez CARVALHO; Castro Simone MARTINS; Santin Ana PAULA; Zaleski CARINA et al Asian Pacific Journal of Tropical Biomedicine DOI 10.1016/s2221-1691(11)60006-3 ISSN 2221-1691	HS Pediatrics; Perinatology and Child Health
2010	Capítulo de livro	Errores Innatos del Metabolismo lisosomal - Parte 1: Mucopolisacaridosis Roberto GIUGLIANI; Verónica Muñoz Rojas MARIA; Cabello Juan FRANCISCO; Maira BURIN; Leistner Segal S et al ; Errones Innatos en el Metabolismo Del Niño ISBN 9789561120969	HS Medicine (miscellaneous)
2010	Artigo em periódico	Genetics of homocysteine metabolism and associated disorders. S BRUSTOLIN; Roberto GIUGLIANI; T M FELIX Brazilian Journal of Medical and Biological Research (Impresso) ISSN 0100-879X	LS Genetics
2010	Artigo em periódico	Does geographical location influence the phenotype of Fabry disease in women in Europe? Barba Romero M A; Deegan P; Roberto GIUGLIANI; Hughes D Clinical Genetics ISSN 0009-9163	LS Genetics
2010	Artigo em periódico	X-linked adrenoleukodystrophy: Clinical course and minimal incidence in South Brazil Laura Bannach JARDIM; Da Silva Andrew Chaves FEITOSA; Blank DEBORAH; Villanueva Maria MERCEDES; Renck LUISA et al Brain & Development (Tokyo. 1979) DOI 10.1016/j.braindev.2009.02.002 ISSN 0387-7604	LS Genetics
2010	Artigo em periódico	Existe uma associação entre mortalidade por câncer e uso de agrotóxicos?: Uma contribuição ao debate Jobim Paulo Fernandes COSTA; Nunes Luciana NEVES; Roberto GIUGLIANI; Cruz Ivana Beatrice Manica DA Ciência & Saúde Coletiva DOI 10.1590/S1413-81232010000100033 ISSN 1413-8123	HS Public Health; Environmental and Occupational Health
2010	Artigo em periódico	Enzyme replacement therapy for mucopolysaccharidosis I: laronidase Roberto GIUGLIANI; Andressa FEDERHEN; C G CARVALHO; O ARTIGALÁS Pediatric Health ISSN 1745-5111	LS Genetics
2010	Artigo em periódico	Bone Marrow Mononuclear Cell Transplantation Improves Survival and Induces Hepatocyte Proliferation in Rats after CCl4 Acute Liver Damage Baldo GUILHERME; Roberto GIUGLIANI; Uribe CAROLINA; Belardinelli Maria CRISTINA; Duarte Marcos Eugênio SOARES et al Digestive Diseases and Sciences DOI 10.1007/s10620-010-1195-4 ISSN 0163-2116	LS Cell Biology
2010	Artigo em periódico	Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis Muñoz Rojas María VERÓNICA; Horovitz Dafne Dain GANDELMAN; Laura Bannach JARDIM; Marcia RAYMUNDO; Llerena Jr Juan CLINTON et al Molecular Genetics and Metabolism DOI 10.1016/j.ymgme.2009.11.008 ISSN 1096-7192	HS Pharmacology (medical)
2010	Artigo em periódico	Inborn errors of metabolism in Latin America: challenges and opportunities Roberto GIUGLIANI Journal of Inherited Metabolic Disease DOI 10.1007/s10545-010-9112-8 ISSN 0141-8955	LS Genetics
2010	Artigo em periódico	The effect of Mycoplasma and mycoplasma removal agent on the hydrolase activity in fibroblasts of patients with lysosomal diseases. F T SOUZA; L SOSTRUZNIK; Roberta SCOLARI; K CASTRO; Andrade CV et al Revista Argentina de Microbiología ISSN 0325-7541	LS Clinical Biochemistry
2010	Artigo em periódico	Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review Pinto Louise LC; Vieira Taiane A; Roberto GIUGLIANI; Schwartz Ida VD Orphanet Journal of Rare Diseases DOI 10.1186/1750-1172-5-14 ISSN 1750-1172	LS Genetics
2010	Artigo em periódico	Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase Harmatz PAUL; Yu Zi FAN; Roberto GIUGLIANI; Schwartz Ida Vanessa D; Guffon NATHALIE et al Journal of Inherited Metabolic Disease DOI 10.1007/s10545-009-9007-8 ISSN 0141-8955	HS Biochemistry (medical)
2010	Artigo em periódico	Terapia de reposição enzimática para as mucopolissacaridoses I; II e VI: recomendações de um grupo de especialistas brasileiros Roberto GIUGLIANI; Andressa FEDERHEN; Muñoz Rojas Maria VERÓNICA; Taiane Alves VIEIRA; Osvaldo ARTIGALÁS et al Revista da Associação Médica Brasileira (1992. Impresso) DOI 10.1590/S0104-42302010000300009 ISSN 0104-4230	HS Internal Medicine
2010	Artigo em periódico	Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. C DECKER; Yu Zi FAN; Roberto GIUGLIANI; Schwartz I V D; N GUFFON et al Journal of Pediatric Rehabilitation Medicine DOI 10.3233/PRM-2010-0113 ISSN 1874-5393	HS Pediatrics; Perinatology and Child Health
2010	Artigo em periódico	Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy Osvaldo ARTIGALÁS; Lagranha Valeska LIZZI; Saraiva Pereira Maria LUIZA; Maira Graeff BURIN; Lourenço Charles MARQUES et al Journal of Inherited Metabolic Disease DOI 10.1007/s10545-010-9140-4 ISSN 0141-8955	HS Genetics (clinical)
2010	Artigo em periódico	Effects of Cryopreservation and Hypothermic Storage on Cell Viability and Enzyme Activity in Recombinant Encapsulated Cells Overexpressing Alpha-L-Iduronidase Mayer Fabiana QUOOS; Baldo GUILHERME; De Carvalho Talita GIACOMET; Lagranha Valeska LIZZI; Roberto GIUGLIANI et al Artificial Organs DOI 10.1111/j.1525-1594.2009.00880.x ISSN 0160-564X	LS Molecular Biology
2010	Artigo em periódico	Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey Mendelsohn Nancy J; Harmatz PAUL; Bodamer OLAF; Burton Barbara K; Roberto GIUGLIANI et al Genetics in Medicine DOI 10.1097/GIM.0b013e3181f6e74d ISSN 1098-3600	HS Genetics (clinical)
2010	Artigo em periódico	Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II ¿ data from the Hunter Outcome Survey Burton Barbara K; Guffon NATHALIE; Roberts JANE; Van Der Ploeg Ans T; Jones Simon A et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2010.06.011 ISSN 1096-7192	HS Genetics (clinical)
2010	Artigo em periódico	Mucopolysaccharidosis I; II; and VI: brief review and guidelines for treatment Roberto GIUGLIANI; Andressa FEDERHEN; Muñoz Rojas Maria VERÔNICA; Vieira TAIANE; Osvaldo ARTIGALÁS et al Genetics and Molecular Biology (Impresso) DOI 10.1590/S1415-47572010005000093 ISSN 1415-4757	HS Genetics (clinical)
2010	Artigo em periódico	Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey Link BIANCA; Lapagesse De Camargo Pinto LOUISE; Roberto GIUGLIANI; Wraith James EDMOND; Guffon NATHALIE et al Orthopedic Reviews DOI 10.4081/or.2010.e16 ISSN 2035-8164	HS Cardiology and Cardiovascular Medicine

2011 Artigo em periódico

LS Genetics

Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil

Molecular Genetics and Metabolism (Print)

Costa Motta Fabiana MOURA; Angelina Xavier ACOSTA; Abé Sandes KIYOKO; Bender FERNANDA; Schwartz Ida Vanessa D et al

DOI ISSN 1096-7192

2011 Artigo em periódico

HS Genetics (clinical)

Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency

Molecular Genetics and Metabolism (Print)

Nalin TATIÉLE; Perry Ingrid Dalira SCHWEIGERT; Angela SITTA; Carmen Regla VARGAS; Saraiva Pereira Maria LUIZA et al

DOI ISSN 1096-7192

2011 Artigo em periódico

HS Genetics (clinical)

Prevalence of the BRCA1 founder mutation c.5266dup in Brazilian individuals at-risk for the Hereditary Breast and Ovarian Cancer Syndrome

Hereditary Cancer in Clinical Practice (Online)

Ewald Ingrid P; Izetti Patricia R; Vargas Fernando R; Moreira Miguel A M; Moreira Aline S et al

DOI ISSN 1897-4287

2011 Artigo em periódico

HS Genetics (clinical)

Cardiac disease in patients with mucopolysaccharidosis: presentation; diagnosis and management

Journal of Inherited Metabolic Disease

Braunlin Elizabeth A; Harmatz Paul R; Scarpa MAURIZIO; Furlanetto BEATRIZ; Kampmann CHRISTOPH et al

DOI ISSN 0141-8955

2011 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Glucose-6-phosphate-dehydrogenase deficiency and its correlation with other risk factors in jaundiced newborns in Southern Brazil

Asian Pacific Journal of Tropical Biomedicine

Clarissa Gutiérrez CARVALHO; Clarissa Gutiérrez CARVALHO; Castro Simone MARTINS; Santin Ana PAULA; Zaleski CARINA et al

DOI ISSN 2221-1691

2010 Capítulo de livro

HS Medicine (miscellaneous)

Errores Innatos del Metabolismo lisosomal - Parte 1: Mucopolisacaridosis

; Errones Innatos en el Metabolismo Del Niño

Roberto GIUGLIANI; Verónica Muñoz Rojas MARIA; Cabello Juan FRANCISCO; Maira BURIN; Leistner Segal S et al

ISBN 9789561120969

2010 Artigo em periódico

LS Genetics

Genetics of homocysteine metabolism and associated disorders.

Brazilian Journal of Medical and Biological Research (Impresso)

S BRUSTOLIN; Roberto GIUGLIANI; T M FELIX

ISSN 0100-879X

2010 Artigo em periódico

LS Genetics

Does geographical location influence the phenotype of Fabry disease in women in Europe?

Clinical Genetics

Barba Romero M A; Deegan P; Roberto GIUGLIANI; Hughes D

ISSN 0009-9163

2010 Artigo em periódico

LS Genetics

X-linked adrenoleukodystrophy: Clinical course and minimal incidence in South Brazil

Brain & Development (Tokyo. 1979)

Laura Bannach JARDIM; Da Silva Andrew Chaves FEITOSA; Blank DEBORAH; Villanueva Maria MERCEDES; Renck LUISA et al

DOI ISSN 0387-7604

2010 Artigo em periódico

HS Public Health; Environmental and Occupational Health

Existe uma associação entre mortalidade por câncer e uso de agrotóxicos?: Uma contribuição ao debate

Ciência & Saúde Coletiva

Jobim Paulo Fernandes COSTA; Nunes Luciana NEVES; Roberto GIUGLIANI; Cruz Ivana Beatrice Manica DA

DOI ISSN 1413-8123

2010 Artigo em periódico

LS Genetics

Enzyme replacement therapy for mucopolysaccharidosis I: laronidase

Pediatric Health

Roberto GIUGLIANI; Andressa FEDERHEN; C G CARVALHO; O ARTIGALÁS

ISSN 1745-5111

2010 Artigo em periódico

LS Cell Biology

Bone Marrow Mononuclear Cell Transplantation Improves Survival and Induces Hepatocyte Proliferation in Rats after CCl4 Acute Liver Damage

Digestive Diseases and Sciences

Baldo GUILHERME; Roberto GIUGLIANI; Uribe CAROLINA; Belardinelli Maria CRISTINA; Duarte Marcos Eugênio SOARES et al

DOI ISSN 0163-2116

2010 Artigo em periódico

HS Pharmacology (medical)

Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis

Molecular Genetics and Metabolism

Muñoz Rojas María VERÓNICA; Horovitz Dafne Dain GANDELMAN; Laura Bannach JARDIM; Marcia RAYMUNDO; Llerena Jr Juan CLINTON et al

DOI ISSN 1096-7192

2010 Artigo em periódico

LS Genetics

Inborn errors of metabolism in Latin America: challenges and opportunities

Journal of Inherited Metabolic Disease

Roberto GIUGLIANI

DOI ISSN 0141-8955

2010 Artigo em periódico

LS Clinical Biochemistry

The effect of Mycoplasma and mycoplasma removal agent on the hydrolase activity in fibroblasts of patients with lysosomal diseases.

Revista Argentina de Microbiología

F T SOUZA; L SOSTRUZNIK; Roberta SCOLARI; K CASTRO; Andrade CV et al

ISSN 0325-7541

2010 Artigo em periódico

LS Genetics

Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

Orphanet Journal of Rare Diseases

Pinto Louise LC; Vieira Taiane A; Roberto GIUGLIANI; Schwartz Ida VD

DOI ISSN 1750-1172

2010 Artigo em periódico

HS Biochemistry (medical)

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

Journal of Inherited Metabolic Disease

Harmatz PAUL; Yu Zi FAN; Roberto GIUGLIANI; Schwartz Ida Vanessa D; Guffon NATHALIE et al

DOI ISSN 0141-8955

2010 Artigo em periódico

HS Internal Medicine

Terapia de reposição enzimática para as mucopolissacaridoses I; II e VI: recomendações de um grupo de especialistas brasileiros

Revista da Associação Médica Brasileira (1992. Impresso)

Roberto GIUGLIANI; Andressa FEDERHEN; Muñoz Rojas Maria VERÓNICA; Taiane Alves VIEIRA; Osvaldo ARTIGALÁS et al

DOI ISSN 0104-4230

2010 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

Journal of Pediatric Rehabilitation Medicine

C DECKER; Yu Zi FAN; Roberto GIUGLIANI; Schwartz I V D; N GUFFON et al

DOI ISSN 1874-5393

2010 Artigo em periódico

HS Genetics (clinical)

Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy

Journal of Inherited Metabolic Disease

Osvaldo ARTIGALÁS; Lagranha Valeska LIZZI; Saraiva Pereira Maria LUIZA; Maira Graeff BURIN; Lourenço Charles MARQUES et al

DOI ISSN 0141-8955

2010 Artigo em periódico

LS Molecular Biology

Effects of Cryopreservation and Hypothermic Storage on Cell Viability and Enzyme Activity in Recombinant Encapsulated Cells Overexpressing Alpha-L-Iduronidase

Artificial Organs

Mayer Fabiana QUOOS; Baldo GUILHERME; De Carvalho Talita GIACOMET; Lagranha Valeska LIZZI; Roberto GIUGLIANI et al

DOI ISSN 0160-564X

2010 Artigo em periódico

HS Genetics (clinical)

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey

Genetics in Medicine

Mendelsohn Nancy J; Harmatz PAUL; Bodamer OLAF; Burton Barbara K; Roberto GIUGLIANI et al

DOI ISSN 1098-3600

2010 Artigo em periódico

HS Genetics (clinical)

Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II ¿ data from the Hunter Outcome Survey

Molecular Genetics and Metabolism (Print)

Burton Barbara K; Guffon NATHALIE; Roberts JANE; Van Der Ploeg Ans T; Jones Simon A et al

DOI ISSN 1096-7192

2010 Artigo em periódico

HS Genetics (clinical)

Mucopolysaccharidosis I; II; and VI: brief review and guidelines for treatment

Genetics and Molecular Biology (Impresso)

Roberto GIUGLIANI; Andressa FEDERHEN; Muñoz Rojas Maria VERÔNICA; Vieira TAIANE; Osvaldo ARTIGALÁS et al

DOI ISSN 1415-4757

2010 Artigo em periódico

HS Cardiology and Cardiovascular Medicine

Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey

Orthopedic Reviews

Link BIANCA; Lapagesse De Camargo Pinto LOUISE; Roberto GIUGLIANI; Wraith James EDMOND; Guffon NATHALIE et al

DOI ISSN 2035-8164