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
2017	Artigo em periódico	Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients Hammerschmidt Tatiane GRAZIELI; De Oliveira Schmitt Ribas GRAZIELA; Saraiva Pereira Maria LUIZA; Bonatto Márcia POLESE; Kessler Rejane GUS et al INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE DOI 10.1016/j.ijdevneu.2017.11.007 ISSN 0736-5748	LS Neuroscience (miscellaneous)
2017	Artigo em periódico	Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) Ficicioglu CAN; Roberto GIUGLIANI; Harmatz PAUL; Mendelsohn Nancy J; Jego VIRGINIE et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.38551 ISSN 1552-4825	HS Genetics (clinical)
2017	Artigo em periódico	Investigation of correlation of urinary globotriaosylceramide (Gb3) levels with markers of renal function in patients with Fabry disease Moura Alana PIMENTEL; Hammerschmidt TATIANE; Marion DEON; Roberto GIUGLIANI; Vargas Carmen REGLA CLINICA CHIMICA ACTA DOI 10.1016/j.cca.2017.12.033 ISSN 0009-8981	LS Clinical Biochemistry
2017	Artigo em periódico	A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide; drisapersen; in Duchenne muscular dystrophy Goemans NATHALIE; Mercuri EUGENIO; Belousova ELENA; Komaki HIROFUMI; Dubrovsky ALBERTO et al NEUROMUSCULAR DISORDERS DOI 10.1016/j.nmd.2017.10.004 ISSN 0960-8966	HS Neurology (clinical)
2017	Artigo em periódico	Long-term restoration of alpha-L-iduronidase activity in fibroblasts from patients with mucopolysaccharidosis type I after non-viral gene transfer Poswar Fabiano De OLIVEIRA; Mayer Fabiana QUOOS; Maira BURIN; Matte Ursula Da SILVEIRA; Roberto GIUGLIANI et al CLINICAL AND BIOMEDICAL RESEARCH DOI 10.4322/2357-9730.74048 ISSN 2357-9730	LS Molecular Biology
2017	Artigo em periódico	Metabolome alterations: a tool to assess efficacy in clinical trials for neuronopathic lysosomal disorders? Roberto GIUGLIANI; Guilherme BALDO Biotarget DOI 10.21037/biotarget.2017.08.03 ISSN 2522-669X	LS Genetics
2016	Artigo em periódico	Emerging drugs for the treatment of mucopolysaccharidoses Roberto GIUGLIANI; Andressa FEDERHEN; Vairo FILIPPO; Vanzella CLÁUDIA; Pasqualim GABRIELA et al Expert Opinion on Emerging Drugs DOI 10.1517/14728214.2016.1123690 ISSN 1472-8214	LS Pharmacology; Toxicology and Pharmaceutics (miscellaneous)
2016	Artigo em periódico	Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational; retrospective; chart review case series Horovitz Dafne Dain GANDELMAN; Angelina Xavier ACOSTA; Roberto GIUGLIANI; Hlavatá ANNA; Hlavatá KATARÍNA et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-016-0437-8 ISSN 1750-1172	HS Genetics (clinical)
2016	Artigo em periódico	Development of a bile acid-based newborn screen for Niemann-Pick disease type C Jiang X; Sidhu R; Mydock Mcgrane L; Hsu F F; Covey D F et al Science Translational Medicine DOI 10.1126/scitranslmed.aaf2326 ISSN 1946-6234	HS Medicine (miscellaneous)
2016	Artigo em periódico	The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS) Parini ROSSELLA; Jones Simon A; Harmatz Paul R; Roberto GIUGLIANI; Mendelsohn Nancy J Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2016.01.009 ISSN 1096-7192	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2016	Artigo em periódico	Clinical course of sly syndrome (mucopolysaccharidosis type VII) Montaño Adriana M; Lock Hock NGU; Steiner Robert D; Graham Brett H; Szlago MARINA et al Journal of Medical Genetics (Print) DOI 10.1136/jmedgenet-2015-103322 ISSN 0022-2593	HS Genetics (clinical)
2016	Artigo em periódico	Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism Roberto GIUGLIANI; Filippo Pinto E VAIRO; Riegel MARILUCE; De Souza Carolina F M; Schwartz Ida V D et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-016-0458-3 ISSN 1750-1172	HS Medicine (miscellaneous)
2016	Artigo em periódico	Screening for germline BRCA1; BRCA2; TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil Palmero Edenir INÊZ; Alemar BÁRBARA; Schüler Faccini LAVÍNIA; Hainaut PIERRE; Moreira Filho Carlos ALBERTO et al Genetics and Molecular Biology (online version) DOI 10.1590/1678-4685-gmb-2014-0363 ISSN 1678-4685	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2016	Artigo em periódico	Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome Hendriksz Christian J; Parini ROSSELLA; Alsayed Moeenaldeen D; Raiman JULIAN; Roberto GIUGLIANI et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2016.05.018 ISSN 1096-7192	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2016	Artigo em periódico	Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation Jacques Carlos Eduardo DIAZ; Donida BRUNA; Mescka Caroline P; Rodrigues Daiane G B; Marchetti Desirèe P et al Biochimica et Biophysica Acta. Molecular Basis of Disease DOI 10.1016/j.bbadis.2016.05.021 ISSN 0925-4439	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2016	Artigo em periódico	Biomolecules damage and redox status abnormalities in Fabry patients before and during enzyme replacement therapy Biancini Giovana BRONDANI; Jacques Carlos EDUARDO; Hammerschmidt TATIANE; De Souza Heryk MOTTA; Donida BRUNA et al Clinica Chimica Acta (Print) DOI 10.1016/j.cca.2016.07.016 ISSN 0009-8981	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2016	Artigo em periódico	Deleterious effects of interruption followed by reintroduction of enzyme replacement therapy on a lysosomal storage disorder Schneider Ana PAULA; Ursula Da Silveira MATTE; Pasqualim GABRIELA; Tavares Angela Maria VICENTE; Mayer Fabiana QUOOS et al Translational Research: the journal of laboratory and clinical medicine DOI 10.1016/j.trsl.2016.05.002 ISSN 1931-5244	LS Genetics
2016	Artigo em periódico	Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β;5α;6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis Ribas G S; Souza H M; De Mari J; Marion DEON; Mescka C et al Clinica Chimica Acta (Print) DOI 10.1016/j.cca.2016.05.015 ISSN 0009-8981	LS Clinical Biochemistry
2016	Artigo em periódico	Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases Cassiman DAVID; Packman SEYMOUR; Bembi BRUNO; Turkia Hadhami BEN; Al Sayed MOEENALDEEN et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2016.05.001 ISSN 1096-7192	LS Genetics
2016	Artigo em periódico	Polymorphisms in CYP19A1 and NFKB1 genes are associated with cutaneous melanoma risk in southern Brazilian patients Escobar Gabriela F; Arraes Jose Aroldo A; Bakos LUCIO; Ashton Prolla PATRICIA; Roberto GIUGLIANI et al Melanoma Research DOI 10.1097/CMR.0000000000000267 ISSN 0960-8931	LS Genetics
2016	Artigo em periódico	Treatment of Fabry?s Disease with the Pharmacologic Chaperone Migalastat Germain Dominique P; Hughes Derralynn A; Nicholls KATHLEEN; Bichet Daniel G; Roberto GIUGLIANI et al New England Journal of Medicine (Print) DOI 10.1056/NEJMoa1510198 ISSN 0028-4793	HS Pharmacology (medical)
2016	Artigo em periódico	Prevalence of thrombophilia and thrombotic events inpatients with Fabry disease in a reference center forlysosomal disorders in Southern Brazil Dick JÉSSICA; Sandra Leistner SEGAL; Vairo Filippo PINTO; Roberto GIUGLIANI; Schwartz Ida Vanessa DOEDERLEIN Clinical & Biomedical Research DOI 10.4322/2357-9730.61850 ISSN 2357-9730	HS Medicine (miscellaneous)
2016	Artigo em periódico	Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis Fietz MICHAEL; Alsayed MOEENALDEEN; Burke DEREK; Cohen Pfeffer JESSICA; Cooper Jonathan D et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2016.07.011 ISSN 1096-7192	HS Genetics (clinical)
2016	Artigo em periódico	Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome Hendriksz Christian J; Berger Kenneth I; Parini ROSSELLA; Alsayed Moeenaldeen D; Raiman JULIAN et al Journal of Inherited Metabolic Disease DOI 10.1007/s10545-016-9973-6 ISSN 0141-8955	HS General Medicine
2016	Artigo em periódico	Prevalence and Phenotypic Expression of Mutations in the MYH7; MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study Mattos Beatriz Piva E; Scolari Fernando LUÍS; Torres Marco Antonio RODRIGUES; Simon LAURA; Freitas Valéria Centeno DE et al Arquivos Brasileiros de Cardiologia (Impresso) DOI 10.5935/abc.20160133 ISSN 0066-782X	HS Cardiology and Cardiovascular Medicine

2017 Artigo em periódico

LS Neuroscience (miscellaneous)

Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients

INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Hammerschmidt Tatiane GRAZIELI; De Oliveira Schmitt Ribas GRAZIELA; Saraiva Pereira Maria LUIZA; Bonatto Márcia POLESE; Kessler Rejane GUS et al

DOI ISSN 0736-5748

2017 Artigo em periódico

HS Genetics (clinical)

Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ficicioglu CAN; Roberto GIUGLIANI; Harmatz PAUL; Mendelsohn Nancy J; Jego VIRGINIE et al

DOI ISSN 1552-4825

2017 Artigo em periódico

LS Clinical Biochemistry

Investigation of correlation of urinary globotriaosylceramide (Gb3) levels with markers of renal function in patients with Fabry disease

CLINICA CHIMICA ACTA

Moura Alana PIMENTEL; Hammerschmidt TATIANE; Marion DEON; Roberto GIUGLIANI; Vargas Carmen REGLA

DOI ISSN 0009-8981

2017 Artigo em periódico

HS Neurology (clinical)

A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide; drisapersen; in Duchenne muscular dystrophy

NEUROMUSCULAR DISORDERS

Goemans NATHALIE; Mercuri EUGENIO; Belousova ELENA; Komaki HIROFUMI; Dubrovsky ALBERTO et al

DOI ISSN 0960-8966

2017 Artigo em periódico

LS Molecular Biology

Long-term restoration of alpha-L-iduronidase activity in fibroblasts from patients with mucopolysaccharidosis type I after non-viral gene transfer

CLINICAL AND BIOMEDICAL RESEARCH

Poswar Fabiano De OLIVEIRA; Mayer Fabiana QUOOS; Maira BURIN; Matte Ursula Da SILVEIRA; Roberto GIUGLIANI et al

DOI ISSN 2357-9730

2017 Artigo em periódico

LS Genetics

Metabolome alterations: a tool to assess efficacy in clinical trials for neuronopathic lysosomal disorders?

Biotarget

Roberto GIUGLIANI; Guilherme BALDO

DOI ISSN 2522-669X

2016 Artigo em periódico

LS Pharmacology; Toxicology and Pharmaceutics (miscellaneous)

Emerging drugs for the treatment of mucopolysaccharidoses

Expert Opinion on Emerging Drugs

Roberto GIUGLIANI; Andressa FEDERHEN; Vairo FILIPPO; Vanzella CLÁUDIA; Pasqualim GABRIELA et al

DOI ISSN 1472-8214

2016 Artigo em periódico

HS Genetics (clinical)

Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational; retrospective; chart review case series

Orphanet Journal of Rare Diseases

Horovitz Dafne Dain GANDELMAN; Angelina Xavier ACOSTA; Roberto GIUGLIANI; Hlavatá ANNA; Hlavatá KATARÍNA et al

DOI ISSN 1750-1172

2016 Artigo em periódico

HS Medicine (miscellaneous)

Development of a bile acid-based newborn screen for Niemann-Pick disease type C

Science Translational Medicine

Jiang X; Sidhu R; Mydock Mcgrane L; Hsu F F; Covey D F et al

DOI ISSN 1946-6234

2016 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Molecular Genetics and Metabolism (Print)

Parini ROSSELLA; Jones Simon A; Harmatz Paul R; Roberto GIUGLIANI; Mendelsohn Nancy J

DOI ISSN 1096-7192

2016 Artigo em periódico

HS Genetics (clinical)

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Journal of Medical Genetics (Print)

Montaño Adriana M; Lock Hock NGU; Steiner Robert D; Graham Brett H; Szlago MARINA et al

DOI ISSN 0022-2593

2016 Artigo em periódico

HS Medicine (miscellaneous)

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

Orphanet Journal of Rare Diseases

Roberto GIUGLIANI; Filippo Pinto E VAIRO; Riegel MARILUCE; De Souza Carolina F M; Schwartz Ida V D et al

DOI ISSN 1750-1172

2016 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Screening for germline BRCA1; BRCA2; TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil

Genetics and Molecular Biology (online version)

Palmero Edenir INÊZ; Alemar BÁRBARA; Schüler Faccini LAVÍNIA; Hainaut PIERRE; Moreira Filho Carlos ALBERTO et al

DOI ISSN 1678-4685

2016 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

Molecular Genetics and Metabolism (Print)

Hendriksz Christian J; Parini ROSSELLA; Alsayed Moeenaldeen D; Raiman JULIAN; Roberto GIUGLIANI et al

DOI ISSN 1096-7192

2016 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation

Biochimica et Biophysica Acta. Molecular Basis of Disease

Jacques Carlos Eduardo DIAZ; Donida BRUNA; Mescka Caroline P; Rodrigues Daiane G B; Marchetti Desirèe P et al

DOI ISSN 0925-4439

2016 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Biomolecules damage and redox status abnormalities in Fabry patients before and during enzyme replacement therapy

Clinica Chimica Acta (Print)

Biancini Giovana BRONDANI; Jacques Carlos EDUARDO; Hammerschmidt TATIANE; De Souza Heryk MOTTA; Donida BRUNA et al

DOI ISSN 0009-8981

2016 Artigo em periódico

LS Genetics

Deleterious effects of interruption followed by reintroduction of enzyme replacement therapy on a lysosomal storage disorder

Translational Research: the journal of laboratory and clinical medicine

Schneider Ana PAULA; Ursula Da Silveira MATTE; Pasqualim GABRIELA; Tavares Angela Maria VICENTE; Mayer Fabiana QUOOS et al

DOI ISSN 1931-5244

2016 Artigo em periódico

LS Clinical Biochemistry

Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β;5α;6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis

Clinica Chimica Acta (Print)

Ribas G S; Souza H M; De Mari J; Marion DEON; Mescka C et al

DOI ISSN 0009-8981

2016 Artigo em periódico

LS Genetics

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases

Molecular Genetics and Metabolism (Print)

Cassiman DAVID; Packman SEYMOUR; Bembi BRUNO; Turkia Hadhami BEN; Al Sayed MOEENALDEEN et al

DOI ISSN 1096-7192

2016 Artigo em periódico

LS Genetics

Polymorphisms in CYP19A1 and NFKB1 genes are associated with cutaneous melanoma risk in southern Brazilian patients

Melanoma Research

Escobar Gabriela F; Arraes Jose Aroldo A; Bakos LUCIO; Ashton Prolla PATRICIA; Roberto GIUGLIANI et al

DOI ISSN 0960-8931

2016 Artigo em periódico

HS Pharmacology (medical)

Treatment of Fabry?s Disease with the Pharmacologic Chaperone Migalastat

New England Journal of Medicine (Print)

Germain Dominique P; Hughes Derralynn A; Nicholls KATHLEEN; Bichet Daniel G; Roberto GIUGLIANI et al

DOI ISSN 0028-4793

2016 Artigo em periódico

HS Medicine (miscellaneous)

Prevalence of thrombophilia and thrombotic events inpatients with Fabry disease in a reference center forlysosomal disorders in Southern Brazil

Clinical & Biomedical Research

Dick JÉSSICA; Sandra Leistner SEGAL; Vairo Filippo PINTO; Roberto GIUGLIANI; Schwartz Ida Vanessa DOEDERLEIN

DOI ISSN 2357-9730

2016 Artigo em periódico

HS Genetics (clinical)

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Molecular Genetics and Metabolism (Print)

Fietz MICHAEL; Alsayed MOEENALDEEN; Burke DEREK; Cohen Pfeffer JESSICA; Cooper Jonathan D et al

DOI ISSN 1096-7192

2016 Artigo em periódico

HS General Medicine

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome

Journal of Inherited Metabolic Disease

Hendriksz Christian J; Berger Kenneth I; Parini ROSSELLA; Alsayed Moeenaldeen D; Raiman JULIAN et al

DOI ISSN 0141-8955

2016 Artigo em periódico

HS Cardiology and Cardiovascular Medicine

Prevalence and Phenotypic Expression of Mutations in the MYH7; MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study

Arquivos Brasileiros de Cardiologia (Impresso)

Mattos Beatriz Piva E; Scolari Fernando LUÍS; Torres Marco Antonio RODRIGUES; Simon LAURA; Freitas Valéria Centeno DE et al

DOI ISSN 0066-782X