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
2014	Artigo em periódico	In vitro effect of genistein on DNA damage in leukocytes from mucopolysaccharidosis IVA patients Negretto G W; Deon M; M BURIN; Biancini G B; Ribas G et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2013.11.011 ISSN 1096-7192	HS Genetics (clinical)
2014	Artigo em periódico	Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease Gabriel Eduardo Santiago CIVALLERO; Gabriel Eduardo Santiago CIVALLERO; De Mari J; Bittar C; Maira BURIN et al Gene (Amsterdam) DOI 10.1016/j.gene.2014.02.003 ISSN 0378-1119	HS Genetics (clinical)
2014	Artigo em periódico	Niemann-Pick disease type C: a case series of Brazilian patients Lorenzoni Paulo JOSÉ; Cardoso ELAINE; Crippa Ana C S; Lourenço Charles MARQUES; Souza Fernanda Timm SEABRA et al Arquivos de Neuro-Psiquiatria (Impresso) DOI 10.1590/0004-282x20130249 ISSN 0004-282X	HS Medicine (miscellaneous)
2014	Artigo em periódico	Lysosomal enzymes may cross the blood-brain-barrier by pinocytosis: Implications for Enzyme Replacement Therapy Guilherme BALDO; Roberto GIUGLIANI; Ursula Da Silveira MATTE Medical Hypotheses DOI 10.1016/j.mehy.2014.01.029 ISSN 0306-9877	LS Molecular Biology
2014	Artigo em periódico	Gene delivery strategies for the treatment of mucopolysaccharidoses Guilherme BALDO; Roberto GIUGLIANI; Ursula Da Silveira MATTE Expert Opinion on Drug Delivery (Print) DOI 10.1517/17425247.2014.880689 ISSN 1742-5247	HS Genetics (clinical)
2014	Artigo em periódico	Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI; Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey study Roberto GIUGLIANI; Lampe CHRISTINA; Guffon NATHALIE; Ketteridge DAVID; Leão Teles ELISA et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.36584 ISSN 1552-4825	HS Genetics (clinical)
2014	Artigo em periódico	Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study Hendriksz Christian J; Burton BARBARA; Fleming Thomas R; Harmatz PAUL; Hughes DERRALYNN et al Journal of Inherited Metabolic Disease DOI 10.1007/s10545-014-9715-6 ISSN 0141-8955	HS Genetics (clinical)
2014	Artigo em periódico	Establishment of Glycosaminoglycan Assays for Mucopolysaccharidoses Tomatsu SHUNJI; Shimada TSUTOMU; Mason ROBERT; Montaño ADRIANA; Kelly JOAN et al Metabolites DOI 10.3390/metabo4030655 ISSN 2218-1989	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2014	Artigo em periódico	Look carefully to the heels! A potentially treatable cause of spastic paraplegia Saute Jonas ALEX; Roberto GIUGLIANI; Merkens Louise S; Chiang JOHN; Debarber Andrea E et al Journal of Inherited Metabolic Disease DOI 10.1007/s10545-014-9745-0 ISSN 0141-8955	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2014	Artigo em periódico	Glycosaminoglycans can be associated with oxidative damage in mucopolysaccharidosis II patients submitted to enzyme replacement therapy Negretto G W; Deon M; Biancini G B; Burin M G; Roberto GIUGLIANI et al Cell Biology and Toxicology DOI 10.1007/s10565-014-9284-3 ISSN 0742-2091	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2014	Artigo em periódico	The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape Bodamer Olaf A; Roberto GIUGLIANI; Wood TIM Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2014.07.013 ISSN 1096-7192	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2014	Artigo em periódico	Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses Shimada TSUTOMU; Kelly JOAN; Lamarr William A; Van Vlies NAOMI; Yasuda ERIKO et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2014.07.008 ISSN 1096-7192	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2014	Artigo em periódico	A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect; Endogamy and Consanguinity Costa Motta Fabiana MOURA; Bender FERNANDA; Acosta ANGELINA; Abé Sandes KIYOKO; Machado TAÍSA et al Human Heredity DOI 10.1159/000358404 ISSN 1423-0062	LS Genetics
2014	Artigo em periódico	Screening for Mucopolysaccharidosis VI a High-Incidebce Area in Northeast Brazil: Report of the First 1800 Newborns Tested Fernanda BENDER; Angelina Xavier ACOSTA; Aline BOCHERNITSAN; Tatiana AMORIM; Maria BURIN et al Journal of Inborn Erros of Metabilism and Screening ISSN 2326-4098	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2014	Artigo em periódico	The Mucopolysaccharidosis Brazil Network: A Decade Helping to Identify Patients With Mucopolysaccharidosis Around the World Federhen ANDRESSA; Maria BURIN; Sandra LEISTNER; Ursula MATTE; Karlla JESUÍNO et al Journal of INBORN ERRORS of METABOLISM and SCREENING ISSN 2326-4098	HS Oncology
2014	Artigo em periódico	Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients De Alencar Dayse OLIVEIRA; Cristina Brinckmann Oliveira NETTO; Ashton Prolla PATRICIA; Roberto GIUGLIANI; Ribeiro Dos Santos ÂNDREA et al Molecular Genetics and Metabolism Reports DOI 10.1016/j.ymgmr.2014.09.002 ISSN 2214-4269	LS Genetics
2014	Artigo em periódico	Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial Hendriksz Christian J; Roberto GIUGLIANI; Harmatz PAUL; Mengel EUGEN; Guffon NATHALIE et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2014.08.012 ISSN 1096-7192	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2014	Artigo em periódico	p.L18P: A novel IDUA mutation that causes a distinct attenuated phenotype in Mucopolysaccharidosis type I patients Pasqualim GABRIELA; Gonçalves Ribeiro MÁRCIA; Guida Godinho Da Fonseca GUSTAVO; Szlago MARINA; Schenone ANDREA et al Clinical Genetics DOI 10.1111/cge.12507 ISSN 0009-9163	LS Genetics
2014	Artigo em periódico	Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series Lampe CHRISTINA; Bosserhoff Ann KATHRIN; Burton Barbara K; Roberto GIUGLIANI; Souza Carolina F et al Journal of Inherited Metabolic Disease DOI 10.1007/s10545-014-9686-7 ISSN 0141-8955	HS Genetics (clinical)
2014	Artigo em periódico	A useful multi-analyte blood test for cerebrotendinous xanthomatosis Debarber Andrea E; Luo JENNY; Roberto GIUGLIANI; Souza Carolina F M; Chiang John Pei WEN et al Clinical Biochemistry DOI 10.1016/j.clinbiochem.2014.04.017 ISSN 0009-9120	LS Molecular Biology
2014	Artigo em periódico	The natural history of MPS I: global perspectives from the MPS I Registry Beck MICHAEL; Arn PAMELA; Roberto GIUGLIANI; Muenzer JOSEPH; Okuyama TORAYUKI et al Genetics in Medicine DOI 10.1038/gim.2014.25 ISSN 1098-3600	LS Genetics
2014	Artigo em periódico	Therapy for mucopolysaccharidosis VI: (Maroteaux-Lamy syndrome) present status and prospects. Roberto GIUGLIANI; Herber SILVANI; Lapagesse De Camargo Pinto LOUISE; Baldo GUILHERME Pediatric Endocrinology Reviews: diabetes; nutrition; metabolism ISSN 1565-4753	HS Pediatrics; Perinatology and Child Health
2014	Artigo em periódico	Pesquisa clínica e doenças raras: a situação no Brasil Andressa FEDERHEN; Filippo Pinto E VAIRO; Cláudia VANZELLA; Ana Paula BOER; Roberto GIUGLIANI Jornal Brasileiro de Economia da Saúde ISSN 2175-2095	HS Public Health; Environmental and Occupational Health
2014	Artigo em periódico	Lessons from molecular modeling human α-L-Iduronidase Figueiredo Danieli FORGIARINI; Antunes Dinler A; Rigo Maurício M; Mendes Marcus F A; Silva Jader P et al Journal of Molecular Graphics & Modelling DOI 10.1016/j.jmgm.2014.10.004 ISSN 1093-3263	LS Molecular Biology
2014	Artigo em periódico	A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases Leadley Regina M; Lang SHONA; Misso KATE; Bekkering TRUDY; Ross JANINE et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-014-0173-x ISSN 1750-1172	HS Genetics (clinical)

2014 Artigo em periódico

HS Genetics (clinical)

In vitro effect of genistein on DNA damage in leukocytes from mucopolysaccharidosis IVA patients

Molecular Genetics and Metabolism (Print)

Negretto G W; Deon M; M BURIN; Biancini G B; Ribas G et al

DOI ISSN 1096-7192

2014 Artigo em periódico

HS Genetics (clinical)

Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease

Gene (Amsterdam)

Gabriel Eduardo Santiago CIVALLERO; Gabriel Eduardo Santiago CIVALLERO; De Mari J; Bittar C; Maira BURIN et al

DOI ISSN 0378-1119

2014 Artigo em periódico

HS Medicine (miscellaneous)

Niemann-Pick disease type C: a case series of Brazilian patients

Arquivos de Neuro-Psiquiatria (Impresso)

Lorenzoni Paulo JOSÉ; Cardoso ELAINE; Crippa Ana C S; Lourenço Charles MARQUES; Souza Fernanda Timm SEABRA et al

DOI ISSN 0004-282X

2014 Artigo em periódico

LS Molecular Biology

Lysosomal enzymes may cross the blood-brain-barrier by pinocytosis: Implications for Enzyme Replacement Therapy

Medical Hypotheses

Guilherme BALDO; Roberto GIUGLIANI; Ursula Da Silveira MATTE

DOI ISSN 0306-9877

2014 Artigo em periódico

HS Genetics (clinical)

Gene delivery strategies for the treatment of mucopolysaccharidoses

Expert Opinion on Drug Delivery (Print)

Guilherme BALDO; Roberto GIUGLIANI; Ursula Da Silveira MATTE

DOI ISSN 1742-5247

2014 Artigo em periódico

HS Genetics (clinical)

Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI; Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey study

American Journal of Medical Genetics. Part A

Roberto GIUGLIANI; Lampe CHRISTINA; Guffon NATHALIE; Ketteridge DAVID; Leão Teles ELISA et al

DOI ISSN 1552-4825

2014 Artigo em periódico

HS Genetics (clinical)

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

Journal of Inherited Metabolic Disease

Hendriksz Christian J; Burton BARBARA; Fleming Thomas R; Harmatz PAUL; Hughes DERRALYNN et al

DOI ISSN 0141-8955

2014 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Establishment of Glycosaminoglycan Assays for Mucopolysaccharidoses

Metabolites

Tomatsu SHUNJI; Shimada TSUTOMU; Mason ROBERT; Montaño ADRIANA; Kelly JOAN et al

DOI ISSN 2218-1989

2014 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Look carefully to the heels! A potentially treatable cause of spastic paraplegia

Journal of Inherited Metabolic Disease

Saute Jonas ALEX; Roberto GIUGLIANI; Merkens Louise S; Chiang JOHN; Debarber Andrea E et al

DOI ISSN 0141-8955

2014 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Glycosaminoglycans can be associated with oxidative damage in mucopolysaccharidosis II patients submitted to enzyme replacement therapy

Cell Biology and Toxicology

Negretto G W; Deon M; Biancini G B; Burin M G; Roberto GIUGLIANI et al

DOI ISSN 0742-2091

2014 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape

Molecular Genetics and Metabolism (Print)

Bodamer Olaf A; Roberto GIUGLIANI; Wood TIM

DOI ISSN 1096-7192

2014 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses

Molecular Genetics and Metabolism (Print)

Shimada TSUTOMU; Kelly JOAN; Lamarr William A; Van Vlies NAOMI; Yasuda ERIKO et al

DOI ISSN 1096-7192

2014 Artigo em periódico

LS Genetics

A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect; Endogamy and Consanguinity

Human Heredity

Costa Motta Fabiana MOURA; Bender FERNANDA; Acosta ANGELINA; Abé Sandes KIYOKO; Machado TAÍSA et al

DOI ISSN 1423-0062

2014 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Screening for Mucopolysaccharidosis VI a High-Incidebce Area in Northeast Brazil: Report of the First 1800 Newborns Tested

Journal of Inborn Erros of Metabilism and Screening

Fernanda BENDER; Angelina Xavier ACOSTA; Aline BOCHERNITSAN; Tatiana AMORIM; Maria BURIN et al

ISSN 2326-4098

2014 Artigo em periódico

HS Oncology

The Mucopolysaccharidosis Brazil Network: A Decade Helping to Identify Patients With Mucopolysaccharidosis Around the World

Journal of INBORN ERRORS of METABOLISM and SCREENING

Federhen ANDRESSA; Maria BURIN; Sandra LEISTNER; Ursula MATTE; Karlla JESUÍNO et al

ISSN 2326-4098

2014 Artigo em periódico

LS Genetics

Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients

Molecular Genetics and Metabolism Reports

De Alencar Dayse OLIVEIRA; Cristina Brinckmann Oliveira NETTO; Ashton Prolla PATRICIA; Roberto GIUGLIANI; Ribeiro Dos Santos ÂNDREA et al

DOI ISSN 2214-4269

2014 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

Molecular Genetics and Metabolism (Print)

Hendriksz Christian J; Roberto GIUGLIANI; Harmatz PAUL; Mengel EUGEN; Guffon NATHALIE et al

DOI ISSN 1096-7192

2014 Artigo em periódico

LS Genetics

p.L18P: A novel IDUA mutation that causes a distinct attenuated phenotype in Mucopolysaccharidosis type I patients

Clinical Genetics

Pasqualim GABRIELA; Gonçalves Ribeiro MÁRCIA; Guida Godinho Da Fonseca GUSTAVO; Szlago MARINA; Schenone ANDREA et al

DOI ISSN 0009-9163

2014 Artigo em periódico

HS Genetics (clinical)

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

Journal of Inherited Metabolic Disease

Lampe CHRISTINA; Bosserhoff Ann KATHRIN; Burton Barbara K; Roberto GIUGLIANI; Souza Carolina F et al

DOI ISSN 0141-8955

2014 Artigo em periódico

LS Molecular Biology

A useful multi-analyte blood test for cerebrotendinous xanthomatosis

Clinical Biochemistry

Debarber Andrea E; Luo JENNY; Roberto GIUGLIANI; Souza Carolina F M; Chiang John Pei WEN et al

DOI ISSN 0009-9120

2014 Artigo em periódico

LS Genetics

The natural history of MPS I: global perspectives from the MPS I Registry

Genetics in Medicine

Beck MICHAEL; Arn PAMELA; Roberto GIUGLIANI; Muenzer JOSEPH; Okuyama TORAYUKI et al

DOI ISSN 1098-3600

2014 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Therapy for mucopolysaccharidosis VI: (Maroteaux-Lamy syndrome) present status and prospects.

Pediatric Endocrinology Reviews: diabetes; nutrition; metabolism

Roberto GIUGLIANI; Herber SILVANI; Lapagesse De Camargo Pinto LOUISE; Baldo GUILHERME

ISSN 1565-4753

2014 Artigo em periódico

HS Public Health; Environmental and Occupational Health

Pesquisa clínica e doenças raras: a situação no Brasil

Jornal Brasileiro de Economia da Saúde

Andressa FEDERHEN; Filippo Pinto E VAIRO; Cláudia VANZELLA; Ana Paula BOER; Roberto GIUGLIANI

ISSN 2175-2095

2014 Artigo em periódico

LS Molecular Biology

Lessons from molecular modeling human α-L-Iduronidase

Journal of Molecular Graphics & Modelling

Figueiredo Danieli FORGIARINI; Antunes Dinler A; Rigo Maurício M; Mendes Marcus F A; Silva Jader P et al

DOI ISSN 1093-3263

2014 Artigo em periódico

HS Genetics (clinical)

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

Orphanet Journal of Rare Diseases

Leadley Regina M; Lang SHONA; Misso KATE; Bekkering TRUDY; Ross JANINE et al

DOI ISSN 1750-1172