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
2013	Artigo em periódico	Chloramphenicol Enhances IDUA Activity on Fibroblasts from Mucopolysaccharidosis I Patients Quoos Mayer FABIANA; Alfonso Artigalas OSVALDO; Lizzi Lagranha VALESKA; Baldo GUILHERME; Vanessa Schwartz IDA et al Current Pharmaceutical Biotechnology (Print) DOI 10.2174/1389201011314020009 ISSN 1389-2010	LS Pharmacology
2013	Artigo em periódico	Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4;700 high-risk colombian subjects. A URIBE; Roberto GIUGLIANI JIMD REPORTS ISSN 2192-8303	HS Genetics (clinical)
2013	Artigo em periódico	Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe; following a period of shortage. Ge LINTHORST; Ap BURLINA; F CECCHI; Tm COX; Jm FLETCHER et al JIMD REPORTS ISSN 2192-8303	HS Medicine (miscellaneous)
2013	Artigo em periódico	Delivering Genetic Education and Genetic Counseling for Rare Diseases in Rural Brazil. Acosta A X; Abé Sandes K; Roberto GIUGLIANI; Ah BITTLES Journal of Genetic Counseling ISSN 1573-3599	LS Genetics
2013	Artigo em periódico	Inclusion of medical genetics in primary health care: report of a pilot project in Brazil Taiane Alves VIEIRA; Giugliani CAMILA; Silva Larissa POZZEBON; Faccini Lavínia SCHULER; Loguercio Leite Júlio CÉSAR et al Journal of Community Genetics DOI 10.1007/s12687-012-0110-4 ISSN 1868-310X	HS Genetics (clinical)
2013	Artigo em periódico	Cytotoxic effect of Amphotericin B in a myofibroblast cell line Uribe C C; Fernanda Dos Santos De OLIVEIRA; Fernanda Dos Santos De OLIVEIRA; Grossmann B; Kretzmann N A et al Toxicology in Vitro DOI 10.1016/j.tiv.2013.08.005 ISSN 0887-2333	LS Pharmacology
2013	Artigo em periódico	Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy Braunlin E; Rosenfeld H; Kampmann C; Johnson J; M BECK et al Journal of Inherited Metabolic Disease DOI 10.1007/s10545-012-9481-2 ISSN 0141-8955	SH Accounting
2013	Artigo em periódico	Non-immune hydrops fetalis: A prospective study of 53 cases Moreno Carolina A; Kanazawa THATIANE; Barini RICARDO; Nomura Marcelo L; Andrade Kléber C et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.36171 ISSN 1552-4825	HS Medicine (miscellaneous)
2013	Artigo em periódico	Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice Guilherme BALDO; Mayer Fabiana Q; Martinelli Bárbara Z; De Carvalho Talita G; Meyer Fabiola S et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2013.03.005 ISSN 1096-7192	LS General Biochemistry; Genetics and Molecular Biology
2013	Artigo em periódico	Treatment of MPS I mice with microencapsulated cells overexpressing IDUA: effect of the prednisolone administration Lagranha Valeska LIZZI; Ursula Da Silveira MATTE; De Carvalho Talita GIACOMET; Roberto GIUGLIANI; Ursula Da Silveira MATTE Journal of Microencapsulation DOI 10.3109/02652048.2012.746745 ISSN 0265-2048	HS Medicine (miscellaneous)
2013	Artigo em periódico	Design; baseline characteristics; and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP) Hendriksz Christian J; Roberto GIUGLIANI; Harmatz PAUL; Lampe CHRISTINA; Ana Maria MARTINS et al Journal of Inherited Metabolic Disease DOI 10.1007/s10545-011-9410-9 ISSN 0141-8955	HS Genetics (clinical)
2013	Artigo em periódico	A multicenter; open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy Roberto GIUGLIANI; Hwu Wuh LIANG; Tylki Szymanska ANNA; Whiteman David A H; Pano ARIAN Genetics in Medicine DOI 10.1038/gim.2013.162 ISSN 1098-3600	HS Genetics (clinical)
2013	Artigo em periódico	MPS Brazil Network: An efficient tool to identify MPS patients country-wide Roberto GIUGLIANI; Acosta ANGELINA; Maria Betânia Pereira TORALLES; Ribeiro ERLANE; Valadares EUGÊNIA et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2012.11.097 ISSN 1096-7192	HS Medicine (miscellaneous)
2012	Capítulo de livro	Impairment of Body Growth in Mucopolysaccharidoses S TOMATSU; A M MONTANO; Hirotaka OIKAWA; Roberto GIUGLIANI; Harmatz PAUL et al Handbook of Growth and Growth Monitoring in Health and Disease ISBN 9780387375	HS Pediatrics; Perinatology and Child Health
2012	Capítulo de livro	Enzyme Replacement Therapy for Lysosomal Stirage Diseases Shunji TOMATSU; Adriana M MONTAÑO; Angela Catalina Sosa MOLANO; Daniel ROWAN; John HINTZE et al Neurochemistry of Metabolic Diseases ISBN 9781612096711	HS Pharmacology (medical)
2012	Capítulo de livro	Population Medical Genetics in Brazil L Schuler FACCINI; Roberto GIUGLIANI Genomics and Health in the Developing World ISBN 1397801953747	HS Medicine (miscellaneous)
2012	Capítulo de livro	The Mucopolysaccharidoses Roberto GIUGLIANI Lysosomal Stirage Disorders A Practical Guidance ISBN 9781118514672	HS Medicine (miscellaneous)
2012	Capítulo de livro	Latin American School of Human and medical Genetics and Latin American Network of Human Genetics: Promoting Education; Interaction and Networking Across Latin America Roberto GIUGLIANI; Guilherme BALDO; Ursula Da Silveira MATTE Genomics and health in the developing world ISBN 9780195374759	LS Genetics
2012	Capítulo de livro	Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease Marina SIEBERT; Hugo BOCK; Kristiane Michelin TIRELLI; Coelho Janice C; Roberto GIUGLIANI et al JIMD Reports DOI 10.1007/8904_2012_174 ISBN 9783642355172	HS Genetics (clinical)
2012	Capítulo de livro	Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe; Following a Period of Shortage Linthorst Gabor E; Burlina Alessandro P; Cecchi FRANCO; Cox Timothy M; Fletcher Janice M et al JIMD Reports DOI 10.1007/8904_2012_160 ISBN 9783642334320	HS General Medicine
2012	Artigo em periódico	Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy Biancini Giovana B; Vanzin Camila S; Rodrigues Daiane B; Marion DEON; Ribas Graziela S et al Biochimica et Biophysica Acta. Molecular Basis of Disease DOI 10.1016/j.bbadis.2011.11.001 ISSN 0925-4439	LS Molecular Biology
2012	Artigo em periódico	Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America Roberto GIUGLIANI Journal of Inherited Metabolic Disease DOI 10.1007/s10545-011-9436-z ISSN 0141-8955	HS Genetics (clinical)
2012	Artigo em periódico	Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry D Aco KRISTIN; Underhill LISA; Rangachari LAKSHMI; Arn PAMELA; Cox Gerald F et al European Journal of Pediatrics DOI 10.1007/s00431-011-1644-x ISSN 0340-6199	SH Social Sciences (miscellaneous)
2012	Artigo em periódico	Analysis of cDNA Molecules is Not Suitable for the Molecular Diagnosis of Mucopolysaccharidosis Type I Almeida Andresa Cardoso GRANDINI; Pasqualim GABRIELA; Mayer Fabiana Q; Schwartz Ida Vanessa DODERLEIN; Souza Carolina F et al Diagnostic Molecular Pathology (Print) DOI 10.1097/PDM.0b013e318230f021 ISSN 1052-9551	LS Cancer Research
2012	Artigo em periódico	Non-Viral Gene Transfer to the Tendon: Comparison of Two Methods Mathias MELENDEZ; Valeska LAGRANHA; A BAPTISTA; P LOMPA; Roberto GIUGLIANI et al Revista HCPA (UFRGS. Impresso) ISSN 0101-5575	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

2013 Artigo em periódico

LS Pharmacology

Chloramphenicol Enhances IDUA Activity on Fibroblasts from Mucopolysaccharidosis I Patients

Current Pharmaceutical Biotechnology (Print)

Quoos Mayer FABIANA; Alfonso Artigalas OSVALDO; Lizzi Lagranha VALESKA; Baldo GUILHERME; Vanessa Schwartz IDA et al

DOI ISSN 1389-2010

2013 Artigo em periódico

HS Genetics (clinical)

Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4;700 high-risk colombian subjects.

JIMD REPORTS

A URIBE; Roberto GIUGLIANI

ISSN 2192-8303

2013 Artigo em periódico

HS Medicine (miscellaneous)

Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe; following a period of shortage.

JIMD REPORTS

Ge LINTHORST; Ap BURLINA; F CECCHI; Tm COX; Jm FLETCHER et al

ISSN 2192-8303

2013 Artigo em periódico

LS Genetics

Delivering Genetic Education and Genetic Counseling for Rare Diseases in Rural Brazil.

Journal of Genetic Counseling

Acosta A X; Abé Sandes K; Roberto GIUGLIANI; Ah BITTLES

ISSN 1573-3599

2013 Artigo em periódico

HS Genetics (clinical)

Inclusion of medical genetics in primary health care: report of a pilot project in Brazil

Journal of Community Genetics

Taiane Alves VIEIRA; Giugliani CAMILA; Silva Larissa POZZEBON; Faccini Lavínia SCHULER; Loguercio Leite Júlio CÉSAR et al

DOI ISSN 1868-310X

2013 Artigo em periódico

LS Pharmacology

Cytotoxic effect of Amphotericin B in a myofibroblast cell line

Toxicology in Vitro

Uribe C C; Fernanda Dos Santos De OLIVEIRA; Fernanda Dos Santos De OLIVEIRA; Grossmann B; Kretzmann N A et al

DOI ISSN 0887-2333

2013 Artigo em periódico

SH Accounting

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy

Journal of Inherited Metabolic Disease

Braunlin E; Rosenfeld H; Kampmann C; Johnson J; M BECK et al

DOI ISSN 0141-8955

2013 Artigo em periódico

HS Medicine (miscellaneous)

Non-immune hydrops fetalis: A prospective study of 53 cases

American Journal of Medical Genetics. Part A

Moreno Carolina A; Kanazawa THATIANE; Barini RICARDO; Nomura Marcelo L; Andrade Kléber C et al

DOI ISSN 1552-4825

2013 Artigo em periódico

LS General Biochemistry; Genetics and Molecular Biology

Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice

Molecular Genetics and Metabolism (Print)

Guilherme BALDO; Mayer Fabiana Q; Martinelli Bárbara Z; De Carvalho Talita G; Meyer Fabiola S et al

DOI ISSN 1096-7192

2013 Artigo em periódico

HS Medicine (miscellaneous)

Treatment of MPS I mice with microencapsulated cells overexpressing IDUA: effect of the prednisolone administration

Journal of Microencapsulation

Lagranha Valeska LIZZI; Ursula Da Silveira MATTE; De Carvalho Talita GIACOMET; Roberto GIUGLIANI; Ursula Da Silveira MATTE

DOI ISSN 0265-2048

2013 Artigo em periódico

HS Genetics (clinical)

Design; baseline characteristics; and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)

Journal of Inherited Metabolic Disease

Hendriksz Christian J; Roberto GIUGLIANI; Harmatz PAUL; Lampe CHRISTINA; Ana Maria MARTINS et al

DOI ISSN 0141-8955

2013 Artigo em periódico

HS Genetics (clinical)

A multicenter; open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy

Genetics in Medicine

Roberto GIUGLIANI; Hwu Wuh LIANG; Tylki Szymanska ANNA; Whiteman David A H; Pano ARIAN

DOI ISSN 1098-3600

2013 Artigo em periódico

HS Medicine (miscellaneous)

MPS Brazil Network: An efficient tool to identify MPS patients country-wide

Molecular Genetics and Metabolism (Print)

Roberto GIUGLIANI; Acosta ANGELINA; Maria Betânia Pereira TORALLES; Ribeiro ERLANE; Valadares EUGÊNIA et al

DOI ISSN 1096-7192

2012 Capítulo de livro

HS Pediatrics; Perinatology and Child Health

Impairment of Body Growth in Mucopolysaccharidoses

Handbook of Growth and Growth Monitoring in Health and Disease

S TOMATSU; A M MONTANO; Hirotaka OIKAWA; Roberto GIUGLIANI; Harmatz PAUL et al

ISBN 9780387375

2012 Capítulo de livro

HS Pharmacology (medical)

Enzyme Replacement Therapy for Lysosomal Stirage Diseases

Neurochemistry of Metabolic Diseases

Shunji TOMATSU; Adriana M MONTAÑO; Angela Catalina Sosa MOLANO; Daniel ROWAN; John HINTZE et al

ISBN 9781612096711

2012 Capítulo de livro

HS Medicine (miscellaneous)

Population Medical Genetics in Brazil

Genomics and Health in the Developing World

L Schuler FACCINI; Roberto GIUGLIANI

ISBN 1397801953747

2012 Capítulo de livro

HS Medicine (miscellaneous)

The Mucopolysaccharidoses

Lysosomal Stirage Disorders A Practical Guidance

Roberto GIUGLIANI

ISBN 9781118514672

2012 Capítulo de livro

LS Genetics

Latin American School of Human and medical Genetics and Latin American Network of Human Genetics: Promoting Education; Interaction and Networking Across Latin America

Genomics and health in the developing world

Roberto GIUGLIANI; Guilherme BALDO; Ursula Da Silveira MATTE

ISBN 9780195374759

2012 Capítulo de livro

HS Genetics (clinical)

Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease

JIMD Reports

Marina SIEBERT; Hugo BOCK; Kristiane Michelin TIRELLI; Coelho Janice C; Roberto GIUGLIANI et al

DOI ISBN 9783642355172

2012 Capítulo de livro

HS General Medicine

Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe; Following a Period of Shortage

JIMD Reports

Linthorst Gabor E; Burlina Alessandro P; Cecchi FRANCO; Cox Timothy M; Fletcher Janice M et al

DOI ISBN 9783642334320

2012 Artigo em periódico

LS Molecular Biology

Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy

Biochimica et Biophysica Acta. Molecular Basis of Disease

Biancini Giovana B; Vanzin Camila S; Rodrigues Daiane B; Marion DEON; Ribas Graziela S et al

DOI ISSN 0925-4439

2012 Artigo em periódico

HS Genetics (clinical)

Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America

Journal of Inherited Metabolic Disease

Roberto GIUGLIANI

DOI ISSN 0141-8955

2012 Artigo em periódico

SH Social Sciences (miscellaneous)

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry

European Journal of Pediatrics

D Aco KRISTIN; Underhill LISA; Rangachari LAKSHMI; Arn PAMELA; Cox Gerald F et al

DOI ISSN 0340-6199

2012 Artigo em periódico

LS Cancer Research

Analysis of cDNA Molecules is Not Suitable for the Molecular Diagnosis of Mucopolysaccharidosis Type I

Diagnostic Molecular Pathology (Print)

Almeida Andresa Cardoso GRANDINI; Pasqualim GABRIELA; Mayer Fabiana Q; Schwartz Ida Vanessa DODERLEIN; Souza Carolina F et al

DOI ISSN 1052-9551

2012 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Non-Viral Gene Transfer to the Tendon: Comparison of Two Methods

Revista HCPA (UFRGS. Impresso)

Mathias MELENDEZ; Valeska LAGRANHA; A BAPTISTA; P LOMPA; Roberto GIUGLIANI et al

ISSN 0101-5575