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
2018	Artigo em periódico	Universal newborn screening: A roadmap for action Howson C P; Cedergren B; Roberto GIUGLIANI; Huhtinen P; Padilla C D et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2018.04.009 ISSN 1096-7192	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2018	Artigo em periódico	Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil Eurico Camargo NETO; Schulte JAQUELINE; Pereira JAMILE; Bravo HEYDY; Sampaio Filho CLAUDIO et al GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION) DOI 10.1590/1678-4685-gmb-2017-0227 ISSN 1678-4685	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2018	Artigo em periódico	A novel LC-MS/MS assay to quantify dermatan sulfate in cerebrospinal fluid as a biomarker for mucopolysaccharidosis II Pan PENG; Chen MU; Zhang ZHILING; Corte Amauri DALLA; Carolina SOUZA et al Bioanalysis DOI 10.4155/bio-2018-0025 ISSN 1757-6180	LS Biochemistry
2018	Artigo em periódico	Spinal cord issues in adult patients with MPS: transition of care survey Ghotme Kemel A; Alvarado Gomez FERNANDO; Lampe CHRISTINA; White Klane K; Solano Villareal MARTHA et al CHILDS NERVOUS SYSTEM DOI 10.1007/s00381-018-3834-6 ISSN 0256-7040	LS Neurology
2018	Artigo em periódico	Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial Schiffmann RAPHAEL; Bichet Daniel G; Jovanovic ANA; Hughes Derralynn A; Roberto GIUGLIANI et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-018-0813-7 ISSN 1750-1172	HS Medicine (miscellaneous)
2018	Artigo em periódico	Intrathecal/Intracerebroventricular enzyme replacement therapy for the mucopolysaccharidoses: efficacy; safety; and prospects Roberto GIUGLIANI; Dalla Corte AMAURI; Poswar FABIANO; Vanzella CLÁUDIA; Horovitz DAFNE et al Expert Opinion on Orphan Drugs DOI 10.1080/21678707.2018.1487838 ISSN 2167-8707	HS Medicine (miscellaneous)
2018	Artigo em periódico	Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis Khan Shaukat A; Mason Robert W; Roberto GIUGLIANI; Orii KENJI; Fukao TOSHIYUKI et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2018.04.011 ISSN 1096-7192	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2018	Artigo em periódico	Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial Roberto GIUGLIANI; Giugliani LUCIANA; De Oliveira Poswar FABIANO; Donis Karina CARVALHO; Corte Amauri DALLA et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-018-0849-8 ISSN 1750-1172	HS General Medicine
2018	Artigo em periódico	Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report Ferreira Dos Reis MOEMA; Pinheiro Lucas RODRIGUES; Pinheiro Maria Das Graças RODRIGUES; De Almeida Haroldo AMORIM; Patrícia Do Socorro Queiroz FEIO et al SPECIAL CARE IN DENTISTRY DOI 10.1111/scd.12290 ISSN 0275-1879	HS Medicine (miscellaneous)
2018	Artigo em periódico	CRISPR-Cas9-mediated gene editing in human MPS I fibroblasts De Carvalho Talita GIACOMET; Schuh ROSELENA; Pasqualim GABRIELA; Pellenz Felipe MATHEUS; Filippi Chiela Eduardo CREMONESE et al GENE DOI 10.1016/j.gene.2018.08.004 ISSN 0378-1119	LS Genetics
2018	Artigo em periódico	In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system Schuh Roselena SILVESTRI; Poletto ÉDINA; Pasqualim GABRIELA; Tavares Angela Maria VICENTE; Meyer Fabíola SHONS et al JOURNAL OF CONTROLLED RELEASE DOI 10.1016/j.jconrel.2018.08.031 ISSN 0168-3659	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2018	Artigo em periódico	Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidoses Brusius Facchin Ana CAROLINA; Rojas Malaga DIANA; Sandra Leistner SEGAL; Roberto GIUGLIANI EXPERT REVIEW OF MOLECULAR DIAGNOSTICS DOI 10.1080/14737159.2018.1523722 ISSN 1473-7159	HS Genetics (clinical)
2018	Artigo em periódico	Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent report Roberto GIUGLIANI; Westwood STEPHANIE; Wellhoefer HARTMANN; Schenk JÖRN; Gurevich ANDREY et al GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION) DOI 10.1590/1678-4685-gmb-2017-0345 ISSN 1678-4685	HS Genetics (clinical)
2018	Artigo em periódico	Hunter syndrome: Long-term idursulfase treatment does not protect patients against DNA oxidation and cytogenetic damage Diaz Jacques Carlos EDUARDO; De Souza Heryk M; Sperotto Nathalia D M; Veríssimo Rodrigo M; Da Rosa Helen T et al MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS DOI 10.1016/j.mrgentox.2018.08.013 ISSN 1383-5718	LS Genetics
2018	Artigo em periódico	Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD) Wasserstein MELISSA; Dionisi Vici CARLO; Roberto GIUGLIANI; Hwu Wuh LIANG; Lidove OLIVIER et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2018.11.014 ISSN 1096-7192	HS Genetics (clinical)
2018	Artigo em periódico	Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy Poswar Fabiano De OLIVEIRA; De Souza Carolina Fischinger MOURA; Roberto GIUGLIANI; Baldo GUILHERME HEART AND VESSELS DOI 10.1007/s00380-018-1242-1 ISSN 0910-8327	HS Genetics (clinical)
2017	Capítulo de livro	Lysosomal Disorders Roberto GIUGLIANI; Vairo FILIPPO; Beck MICHAEL; Wraith J EDMOND; Grabowski G Pediatric Endocrinology and Inborn Errors of Metabolism ISBN 9780071773140	HS Endocrinology; Diabetes and Metabolism
2017	Artigo em periódico	Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry Kubaski FRANCYNE; Mason Robert W; Nakatomi AKIKO; Shintaku HARUO; Xie LI et al Journal of Inherited Metabolic Disease DOI 10.1007/s10545-016-9981-6 ISSN 0141-8955	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2017	Artigo em periódico	Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I Roberto GIUGLIANI; Taiane Alves VIEIRA; Carvalho Clarissa GUTIERREZ; Muñoz Rojas Maria VERONICA; Semyachkina Alla N et al Molecular Genetics and Metabolism Reports DOI 10.1016/j.ymgmr.2017.01.004 ISSN 2214-4269	HS Genetics (clinical)
2017	Artigo em periódico	Progressive heart disease in mucopolysaccharidosis type I mice may be mediated by increased cathepsin B activity Guilherme BALDO; Tavares Angela Maria VICENTE; Gonzalez ESTEBAN; Poletto EDINA; Mayer Fabiana QUOOS et al Cardiovascular Pathology DOI 10.1016/j.carpath.2017.01.001 ISSN 1054-8807	HS Cardiology and Cardiovascular Medicine
2017	Artigo em periódico	Oxidative damage and redox in Lysosomal Storage Disorders: Biochemical markers Donida BRUNA; Jacques Carlos Eduardo DIAZ; Mescka Caroline PAULA; Rodrigues Daiane Grigolo BARDEMAKER; Marchetti Desirèe PADILHA et al Clinica Chimica Acta (Print) DOI 10.1016/j.cca.2017.01.007 ISSN 0009-8981	LS Clinical Biochemistry
2017	Artigo em periódico	Subcutaneous implantation of microencapsulated cells overexpressing α-L-iduronidase for mucopolysaccharidosis type I treatment Lizzi Lagranha VALESKA; Barbara Zambiasi MARTINELLI; Baldo GUILHERME; Ávila Testa GIUSEPPE; Giacomet De Carvalho TALITA et al Journal of Materials Science. Materials in Medicine (Dordrecht. Online) DOI 10.1007/s10856-017-5844-4 ISSN 1573-4838	LS Molecular Biology
2017	Artigo em periódico	Globotriaosylsphingosine induces oxidative DNA damage in cultured kidney cells Biancini Giovana BRONDANI; Morás Ana MOIRA; Reinhardt Luiza STEFFENS; Busatto Franciele FACCIO; De Moura Sperotto Nathalia DENISE et al NEPHROLOGY DOI 10.1111/nep.12977 ISSN 1320-5358	LS Clinical Biochemistry
2017	Artigo em periódico	Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory Roberto GIUGLIANI; Andressa FEDERHEN; Kristiane Michelin TIRELLI; Riegel MARILUCE; Maira BURIN GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION) DOI 10.1590/1678-4685-gmb-2016-0268 ISSN 1678-4685	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2017	Artigo em periódico	Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients Roberto GIUGLIANI; Harmatz P; Jones S A; Mendelsohn N J; Vellodi A et al MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2017.01.014 ISSN 2214-4269	HS Genetics (clinical)

2018 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Universal newborn screening: A roadmap for action

MOLECULAR GENETICS AND METABOLISM

Howson C P; Cedergren B; Roberto GIUGLIANI; Huhtinen P; Padilla C D et al

DOI ISSN 1096-7192

2018 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil

GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION)

Eurico Camargo NETO; Schulte JAQUELINE; Pereira JAMILE; Bravo HEYDY; Sampaio Filho CLAUDIO et al

DOI ISSN 1678-4685

2018 Artigo em periódico

LS Biochemistry

A novel LC-MS/MS assay to quantify dermatan sulfate in cerebrospinal fluid as a biomarker for mucopolysaccharidosis II

Bioanalysis

Pan PENG; Chen MU; Zhang ZHILING; Corte Amauri DALLA; Carolina SOUZA et al

DOI ISSN 1757-6180

2018 Artigo em periódico

LS Neurology

Spinal cord issues in adult patients with MPS: transition of care survey

CHILDS NERVOUS SYSTEM

Ghotme Kemel A; Alvarado Gomez FERNANDO; Lampe CHRISTINA; White Klane K; Solano Villareal MARTHA et al

DOI ISSN 0256-7040

2018 Artigo em periódico

HS Medicine (miscellaneous)

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial

Orphanet Journal of Rare Diseases

Schiffmann RAPHAEL; Bichet Daniel G; Jovanovic ANA; Hughes Derralynn A; Roberto GIUGLIANI et al

DOI ISSN 1750-1172

2018 Artigo em periódico

HS Medicine (miscellaneous)

Intrathecal/Intracerebroventricular enzyme replacement therapy for the mucopolysaccharidoses: efficacy; safety; and prospects

Expert Opinion on Orphan Drugs

Roberto GIUGLIANI; Dalla Corte AMAURI; Poswar FABIANO; Vanzella CLÁUDIA; Horovitz DAFNE et al

DOI ISSN 2167-8707

2018 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis

MOLECULAR GENETICS AND METABOLISM

Khan Shaukat A; Mason Robert W; Roberto GIUGLIANI; Orii KENJI; Fukao TOSHIYUKI et al

DOI ISSN 1096-7192

2018 Artigo em periódico

HS General Medicine

Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial

Orphanet Journal of Rare Diseases

Roberto GIUGLIANI; Giugliani LUCIANA; De Oliveira Poswar FABIANO; Donis Karina CARVALHO; Corte Amauri DALLA et al

DOI ISSN 1750-1172

2018 Artigo em periódico

HS Medicine (miscellaneous)

Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report

SPECIAL CARE IN DENTISTRY

Ferreira Dos Reis MOEMA; Pinheiro Lucas RODRIGUES; Pinheiro Maria Das Graças RODRIGUES; De Almeida Haroldo AMORIM; Patrícia Do Socorro Queiroz FEIO et al

DOI ISSN 0275-1879

2018 Artigo em periódico

LS Genetics

CRISPR-Cas9-mediated gene editing in human MPS I fibroblasts

GENE

De Carvalho Talita GIACOMET; Schuh ROSELENA; Pasqualim GABRIELA; Pellenz Felipe MATHEUS; Filippi Chiela Eduardo CREMONESE et al

DOI ISSN 0378-1119

2018 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system

JOURNAL OF CONTROLLED RELEASE

Schuh Roselena SILVESTRI; Poletto ÉDINA; Pasqualim GABRIELA; Tavares Angela Maria VICENTE; Meyer Fabíola SHONS et al

DOI ISSN 0168-3659

2018 Artigo em periódico

HS Genetics (clinical)

Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidoses

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Brusius Facchin Ana CAROLINA; Rojas Malaga DIANA; Sandra Leistner SEGAL; Roberto GIUGLIANI

DOI ISSN 1473-7159

2018 Artigo em periódico

HS Genetics (clinical)

Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent report

GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION)

Roberto GIUGLIANI; Westwood STEPHANIE; Wellhoefer HARTMANN; Schenk JÖRN; Gurevich ANDREY et al

DOI ISSN 1678-4685

2018 Artigo em periódico

LS Genetics

Hunter syndrome: Long-term idursulfase treatment does not protect patients against DNA oxidation and cytogenetic damage

MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS

Diaz Jacques Carlos EDUARDO; De Souza Heryk M; Sperotto Nathalia D M; Veríssimo Rodrigo M; Da Rosa Helen T et al

DOI ISSN 1383-5718

2018 Artigo em periódico

HS Genetics (clinical)

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

MOLECULAR GENETICS AND METABOLISM

Wasserstein MELISSA; Dionisi Vici CARLO; Roberto GIUGLIANI; Hwu Wuh LIANG; Lidove OLIVIER et al

DOI ISSN 1096-7192

2018 Artigo em periódico

HS Genetics (clinical)

Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy

HEART AND VESSELS

Poswar Fabiano De OLIVEIRA; De Souza Carolina Fischinger MOURA; Roberto GIUGLIANI; Baldo GUILHERME

DOI ISSN 0910-8327

2017 Capítulo de livro

HS Endocrinology; Diabetes and Metabolism

Lysosomal Disorders

Pediatric Endocrinology and Inborn Errors of Metabolism

Roberto GIUGLIANI; Vairo FILIPPO; Beck MICHAEL; Wraith J EDMOND; Grabowski G

ISBN 9780071773140

2017 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry

Journal of Inherited Metabolic Disease

Kubaski FRANCYNE; Mason Robert W; Nakatomi AKIKO; Shintaku HARUO; Xie LI et al

DOI ISSN 0141-8955

2017 Artigo em periódico

HS Genetics (clinical)

Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I

Molecular Genetics and Metabolism Reports

Roberto GIUGLIANI; Taiane Alves VIEIRA; Carvalho Clarissa GUTIERREZ; Muñoz Rojas Maria VERONICA; Semyachkina Alla N et al

DOI ISSN 2214-4269

2017 Artigo em periódico

HS Cardiology and Cardiovascular Medicine

Progressive heart disease in mucopolysaccharidosis type I mice may be mediated by increased cathepsin B activity

Cardiovascular Pathology

Guilherme BALDO; Tavares Angela Maria VICENTE; Gonzalez ESTEBAN; Poletto EDINA; Mayer Fabiana QUOOS et al

DOI ISSN 1054-8807

2017 Artigo em periódico

LS Clinical Biochemistry

Oxidative damage and redox in Lysosomal Storage Disorders: Biochemical markers

Clinica Chimica Acta (Print)

Donida BRUNA; Jacques Carlos Eduardo DIAZ; Mescka Caroline PAULA; Rodrigues Daiane Grigolo BARDEMAKER; Marchetti Desirèe PADILHA et al

DOI ISSN 0009-8981

2017 Artigo em periódico

LS Molecular Biology

Subcutaneous implantation of microencapsulated cells overexpressing α-L-iduronidase for mucopolysaccharidosis type I treatment

Journal of Materials Science. Materials in Medicine (Dordrecht. Online)

Lizzi Lagranha VALESKA; Barbara Zambiasi MARTINELLI; Baldo GUILHERME; Ávila Testa GIUSEPPE; Giacomet De Carvalho TALITA et al

DOI ISSN 1573-4838

2017 Artigo em periódico

LS Clinical Biochemistry

Globotriaosylsphingosine induces oxidative DNA damage in cultured kidney cells

NEPHROLOGY

Biancini Giovana BRONDANI; Morás Ana MOIRA; Reinhardt Luiza STEFFENS; Busatto Franciele FACCIO; De Moura Sperotto Nathalia DENISE et al

DOI ISSN 1320-5358

2017 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory

GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION)

Roberto GIUGLIANI; Andressa FEDERHEN; Kristiane Michelin TIRELLI; Riegel MARILUCE; Maira BURIN

DOI ISSN 1678-4685

2017 Artigo em periódico

HS Genetics (clinical)

Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients

MOLECULAR GENETICS AND METABOLISM REPORTS

Roberto GIUGLIANI; Harmatz P; Jones S A; Mendelsohn N J; Vellodi A et al

DOI ISSN 2214-4269