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
2025	Artigo em periódico	Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey Muenzer JOSEPH; Botha JACO; Amartino HERNAN; Roberto GIUGLIANI; Harmatz PAUL et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2025.109284 ISSN 1096-7192	HS Genetics (clinical)
2025	Artigo em periódico	Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20-years of data from the Fabry Outcome Survey Hughes Derralynn A; Pintosmorell GUILLEM; Kampmann CHRISTOPH; Anagnostopoulou CHRISTINA; Botha JACO et al EUROPEAN JOURNAL OF CLINICAL INVESTIGATION DOI 10.1111/eci.70142 ISSN 0014-2972	HS Internal Medicine
2025	Artigo em periódico	Current and Emerging Treatments for Acid Sphingomyelinase Deficiency Silva Alves TAMIRES; Fonseca Siqueira Ana LUÍZA; Roberto GIUGLIANI DRUGS DOI 10.1007/s40265-025-02240-7 ISSN 0012-6667	HS Pharmacology (medical)
2025	Artigo em periódico	Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review Burton Barbara K; Fertek DANIEL; Chin Peter S; Ho CAROLE; Roberto GIUGLIANI et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2025.109248 ISSN 1096-7192	HS Genetics (clinical)
2025	Artigo em periódico	Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador Castro Moreira María LUCÍA; Montenegro Yorran Hardman ARAÚJO; Salatino Oliveira ANGÉLICA; Montano Héctor QUINTERO; Bareiro Rodolfo F NIZ et al Diagnostics DOI 10.3390/diagnostics15182337 ISSN 2075-4418	HS Oncology
2025	Artigo em periódico	Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency Scarpa MAURIZIO; Diaz George A; Roberto GIUGLIANI; Jones Simon A; Mengel EUGEN et al JOURNAL OF INHERITED METABOLIC DISEASE DOI 10.1002/jimd.70086 ISSN 0141-8955	HS Internal Medicine
2025	Artigo em periódico	Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey Muenzer JOSEPH; Amartino HERNAN; Roberto GIUGLIANI; Harmatz PAUL; Lin Shuan PEI et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-024-03464-8 ISSN 1750-1172	HS Geriatrics and Gerontology
2025	Artigo em periódico	Community genetics in Brazil- a 2025 perspective Roberto GIUGLIANI; Dain Gandelman Horovitz DAFNE JOURNAL OF COMMUNITY GENETICS DOI 10.1007/s12687-025-00814-2 ISSN 1868-6001	LS Genetics
2025	Artigo em periódico	ISNS General Guidelines for Neonatal Bloodspot Screening 2025 Webster DIANNE; Gaviglio AMY; Khan Aysha HABIB; Baker MEI; Cheillan DAVID et al International Journal Of Neonatal Screening DOI 10.3390/ijns11020045 ISSN 2409-515X	HS Pediatrics; Perinatology and Child Health
2025	Artigo em periódico	Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network; helping Brazil and Latin America to identify patients with lysosomal storage diseases Trapp Franciele BARBOSA; Riegel MARILUCE; Kristiane Michelin TIRELLI; Da Silva Layzon Antonio LEMOS; Iop Gabrielle DINECK et al JOURNAL OF COMMUNITY GENETICS DOI 10.1007/s12687-025-00805-3 ISSN 1868-6001	HS Genetics (clinical)
2025	Artigo em periódico	Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy Ramaswami UMA; Pintos Morell GUILLEM; Kampmann CHRISTOPH; Nicholls KATHLEEN; Niu Dau MING et al MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2025.101215 ISSN 2214-4269	LS Molecular Medicine
2025	Artigo em periódico	Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review Jovanovic ANA; Miller Hodges EVE; Castriota FELICIA; Evuarherhe OBARO; Ayodele OLULADE et al Journal of Clinical Medicine DOI 10.3390/jcm14145131 ISSN 2077-0383	HS Endocrinology; Diabetes and Metabolism
2025	Artigo em periódico	Analysis of genomic ancestry and characterization of a new variant in MPS type VII Da Costa Andreza Juliana MOREIRA; De Souza Isabel Cristina NEVES; Feio Raimunda HELENA; Viana Laurent Ketlen LEÃO; Cisz MISLENE et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-025-03593-8 ISSN 1750-1172	LS Genetics
2024	Capítulo de livro	Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International Taruscio DOMENICA; Lumaka AIMÉ; Carta CLAUDIO; Ferrari GIANLUCA; Sciascia SAVINO et al Frontiers in Public Health ISBN 9782832553893	HS Public Health; Environmental and Occupational Health
2024	Capítulo de livro	1976 Um hospital como paraninfo simbólico Roberto GIUGLIANI Beca; canudo e protesto: contestação e irreverência nas formaturas da Faculdade de Medicina da UFRGS de 1974 a 1990 ISBN 9786586264876	SH History
2024	Capítulo de livro	Saúde tem história III: narrativas no Centro Histórico-Cultural Santa Casa de Porto Alegre. Sessão Saúde; Doenças e Inovações na Medicina Roberto GIUGLIANI Genética; Genômica e Saúde ISBN 9786556993539	SH History and Philosophy of Science
2024	Capítulo de livro	Genética Roberto GIUGLIANI A trajetória das Especialidades Médicas no Rio Grande do Sul ISBN 9786598192013	HS Genetics (clinical)
2024	Artigo em periódico	Characterization of orthopedic manifestations in patients with mucopolysaccharidosis using data from 15-years of the Hunter Outcome Survey Link BIANCA; Botha JACO; Roberto GIUGLIANI JIMD REPORTS DOI 10.1002/jmd2.12401 ISSN 2192-8312	HS Orthopedics and Sports Medicine
2024	Artigo em periódico	α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A Phase 1/2 Trial Harmatz PAUL; Roberto GIUGLIANI; Ana Maria MARTINS; Hamazaki TAKASHI; Kubo TORU et al MOLECULAR THERAPY DOI 10.1016/j.ymthe.2024.01.009 ISSN 1525-0016	SH Accounting
2024	Artigo em periódico	Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: <scp>A</scp> pilot study in <scp>Brazil</scp> Migliavacca Michele P; Sobreira JOSELITO; Bermeo DIANA; Gomes MIREILLE; Alencar DAYSE et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.63544 ISSN 1552-4825	HS Genetics (clinical)
2024	Artigo em periódico	Disease progression in Sanfilippo type B: Case series of Brazilian patients Montenegro Yorran Hardman ARAÚJO; Kubaski FRANCYNE; Trapp Franciele BARBOSA; Riegel Giugliani MARILUCE; Souza Carolina Fischinger Moura DE et al GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION) DOI 10.1590/1678-4685-gmb-2023-0285 ISSN 1678-4685	HS Genetics (clinical)
2024	Artigo em periódico	Low-pass whole genome sequencing as a cost-effectivealternative to chromosomal microarray analysis for low- andmiddle-income countries Patricia C MAZZONETTO; Darine VILLELA; Ana C V KREPISCHI; Paulo M PIERRY; Adriano BONALDI et al American Journal of Medical Genetics Part A ISSN 1552-4833	LS Genetics
2024	Artigo em periódico	Disease characteristics; effectiveness; and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel; longitudinal; multicenter disease monitoring program Roberto GIUGLIANI; Gonzalez Meneses ANTONIO; Scarpa MAURIZIO; Burton BARBARA; Wang RAYMOND et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-024-03176-z ISSN 1750-1172	HS Pharmacology (medical)
2024	Artigo em periódico	Laronidase-loaded liposomes reach the brain and other hard-to-treat organs after noninvasive nasal administration Schuh Roselena SILVESTRI; Franceschi Eduarda PIOVESAN; Brum Bruna BRAZEIRO; Fachel Flávia Nathiely SILVEIRA; Poletto ÉDINA et al INTERNATIONAL JOURNAL OF PHARMACEUTICS DOI 10.1016/j.ijpharm.2024.124355 ISSN 0378-5173	LS Pharmaceutical Science
2024	Artigo em periódico	Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study Guffon NATHALIE; Burton Barbara K; Ficicioglu CAN; Magner MARTIN; Gil Campos MERCEDES et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2024.108519 ISSN 1096-7192	HS Endocrinology; Diabetes and Metabolism

2025 Artigo em periódico

HS Genetics (clinical)

Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey

MOLECULAR GENETICS AND METABOLISM

Muenzer JOSEPH; Botha JACO; Amartino HERNAN; Roberto GIUGLIANI; Harmatz PAUL et al

DOI ISSN 1096-7192

2025 Artigo em periódico

HS Internal Medicine

Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20-years of data from the Fabry Outcome Survey

EUROPEAN JOURNAL OF CLINICAL INVESTIGATION

Hughes Derralynn A; Pintosmorell GUILLEM; Kampmann CHRISTOPH; Anagnostopoulou CHRISTINA; Botha JACO et al

DOI ISSN 0014-2972

2025 Artigo em periódico

HS Pharmacology (medical)

Current and Emerging Treatments for Acid Sphingomyelinase Deficiency

DRUGS

Silva Alves TAMIRES; Fonseca Siqueira Ana LUÍZA; Roberto GIUGLIANI

DOI ISSN 0012-6667

2025 Artigo em periódico

HS Genetics (clinical)

Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review

MOLECULAR GENETICS AND METABOLISM

Burton Barbara K; Fertek DANIEL; Chin Peter S; Ho CAROLE; Roberto GIUGLIANI et al

DOI ISSN 1096-7192

2025 Artigo em periódico

HS Oncology

Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador

Diagnostics

Castro Moreira María LUCÍA; Montenegro Yorran Hardman ARAÚJO; Salatino Oliveira ANGÉLICA; Montano Héctor QUINTERO; Bareiro Rodolfo F NIZ et al

DOI ISSN 2075-4418

2025 Artigo em periódico

HS Internal Medicine

Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency

JOURNAL OF INHERITED METABOLIC DISEASE

Scarpa MAURIZIO; Diaz George A; Roberto GIUGLIANI; Jones Simon A; Mengel EUGEN et al

DOI ISSN 0141-8955

2025 Artigo em periódico

HS Geriatrics and Gerontology

Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey

Orphanet Journal of Rare Diseases

Muenzer JOSEPH; Amartino HERNAN; Roberto GIUGLIANI; Harmatz PAUL; Lin Shuan PEI et al

DOI ISSN 1750-1172

2025 Artigo em periódico

LS Genetics

Community genetics in Brazil- a 2025 perspective

JOURNAL OF COMMUNITY GENETICS

Roberto GIUGLIANI; Dain Gandelman Horovitz DAFNE

DOI ISSN 1868-6001

2025 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

ISNS General Guidelines for Neonatal Bloodspot Screening 2025

International Journal Of Neonatal Screening

Webster DIANNE; Gaviglio AMY; Khan Aysha HABIB; Baker MEI; Cheillan DAVID et al

DOI ISSN 2409-515X

2025 Artigo em periódico

HS Genetics (clinical)

Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network; helping Brazil and Latin America to identify patients with lysosomal storage diseases

JOURNAL OF COMMUNITY GENETICS

Trapp Franciele BARBOSA; Riegel MARILUCE; Kristiane Michelin TIRELLI; Da Silva Layzon Antonio LEMOS; Iop Gabrielle DINECK et al

DOI ISSN 1868-6001

2025 Artigo em periódico

LS Molecular Medicine

Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy

MOLECULAR GENETICS AND METABOLISM REPORTS

Ramaswami UMA; Pintos Morell GUILLEM; Kampmann CHRISTOPH; Nicholls KATHLEEN; Niu Dau MING et al

DOI ISSN 2214-4269

2025 Artigo em periódico

HS Endocrinology; Diabetes and Metabolism

Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review

Journal of Clinical Medicine

Jovanovic ANA; Miller Hodges EVE; Castriota FELICIA; Evuarherhe OBARO; Ayodele OLULADE et al

DOI ISSN 2077-0383

2025 Artigo em periódico

LS Genetics

Analysis of genomic ancestry and characterization of a new variant in MPS type VII

Orphanet Journal of Rare Diseases

Da Costa Andreza Juliana MOREIRA; De Souza Isabel Cristina NEVES; Feio Raimunda HELENA; Viana Laurent Ketlen LEÃO; Cisz MISLENE et al

DOI ISSN 1750-1172

2024 Capítulo de livro

HS Public Health; Environmental and Occupational Health

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

Frontiers in Public Health

Taruscio DOMENICA; Lumaka AIMÉ; Carta CLAUDIO; Ferrari GIANLUCA; Sciascia SAVINO et al

ISBN 9782832553893

2024 Capítulo de livro

SH History

1976 Um hospital como paraninfo simbólico

Beca; canudo e protesto: contestação e irreverência nas formaturas da Faculdade de Medicina da UFRGS de 1974 a 1990

Roberto GIUGLIANI

ISBN 9786586264876

2024 Capítulo de livro

SH History and Philosophy of Science

Saúde tem história III: narrativas no Centro Histórico-Cultural Santa Casa de Porto Alegre. Sessão Saúde; Doenças e Inovações na Medicina

Genética; Genômica e Saúde

Roberto GIUGLIANI

ISBN 9786556993539

2024 Capítulo de livro

HS Genetics (clinical)

Genética

A trajetória das Especialidades Médicas no Rio Grande do Sul

Roberto GIUGLIANI

ISBN 9786598192013

2024 Artigo em periódico

HS Orthopedics and Sports Medicine

Characterization of orthopedic manifestations in patients with mucopolysaccharidosis using data from 15-years of the Hunter Outcome Survey

JIMD REPORTS

Link BIANCA; Botha JACO; Roberto GIUGLIANI

DOI ISSN 2192-8312

2024 Artigo em periódico

SH Accounting

α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A Phase 1/2 Trial

MOLECULAR THERAPY

Harmatz PAUL; Roberto GIUGLIANI; Ana Maria MARTINS; Hamazaki TAKASHI; Kubo TORU et al

DOI ISSN 1525-0016

2024 Artigo em periódico

HS Genetics (clinical)

Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: <scp>A</scp> pilot study in <scp>Brazil</scp>

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Migliavacca Michele P; Sobreira JOSELITO; Bermeo DIANA; Gomes MIREILLE; Alencar DAYSE et al

DOI ISSN 1552-4825

2024 Artigo em periódico

HS Genetics (clinical)

Disease progression in Sanfilippo type B: Case series of Brazilian patients

GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION)

Montenegro Yorran Hardman ARAÚJO; Kubaski FRANCYNE; Trapp Franciele BARBOSA; Riegel Giugliani MARILUCE; Souza Carolina Fischinger Moura DE et al

DOI ISSN 1678-4685

2024 Artigo em periódico

LS Genetics

Low-pass whole genome sequencing as a cost-effectivealternative to chromosomal microarray analysis for low- andmiddle-income countries

American Journal of Medical Genetics Part A

Patricia C MAZZONETTO; Darine VILLELA; Ana C V KREPISCHI; Paulo M PIERRY; Adriano BONALDI et al

ISSN 1552-4833

2024 Artigo em periódico

HS Pharmacology (medical)

Disease characteristics; effectiveness; and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel; longitudinal; multicenter disease monitoring program

Orphanet Journal of Rare Diseases

Roberto GIUGLIANI; Gonzalez Meneses ANTONIO; Scarpa MAURIZIO; Burton BARBARA; Wang RAYMOND et al

DOI ISSN 1750-1172

2024 Artigo em periódico

LS Pharmaceutical Science

Laronidase-loaded liposomes reach the brain and other hard-to-treat organs after noninvasive nasal administration

INTERNATIONAL JOURNAL OF PHARMACEUTICS

Schuh Roselena SILVESTRI; Franceschi Eduarda PIOVESAN; Brum Bruna BRAZEIRO; Fachel Flávia Nathiely SILVEIRA; Poletto ÉDINA et al

DOI ISSN 0378-5173

2024 Artigo em periódico

HS Endocrinology; Diabetes and Metabolism

Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study

MOLECULAR GENETICS AND METABOLISM

Guffon NATHALIE; Burton Barbara K; Ficicioglu CAN; Magner MARTIN; Gil Campos MERCEDES et al

DOI ISSN 1096-7192