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
2026	Artigo em periódico	Female Patients With Mucopolysaccharidosis ( ): Insights From the Hunter Outcome Survey Burton Barbara K; Amartino HERNAN; Roberto GIUGLIANI; Kampmann CHRISTOPH; Raiman JULIAN et al JIMD REPORTS DOI 10.1002/jmd2.70046 ISSN 2192-8312	HS Medicine (miscellaneous)
2026	Artigo em periódico	Venglustat in GM2 gangliosidoses and related disorders: Results of the AMETHIST randomized controlled and basket trials Tifft Cynthia J; Batsu ISABELA; Roberto GIUGLIANI; Goyeau HARMONIE; Hahn ANDREAS et al GENETICS IN MEDICINE DOI 10.1016/j.gim.2025.101615 ISSN 1098-3600	HS Genetics (clinical)
2026	Artigo em periódico	Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPSBrazil Network Yorran Hardman Araújo MONTENEGRO; Maria Fernanda Antero ALVES; Simone Silva Dos Santos LOPES; Carolina Fischinger Moura De SOUZA; Fabiano De Oliveira POSWAR et al Diseases DOI 10.3390/diseases14010005 ISSN 2079-9721	HS Internal Medicine
2026	Artigo em periódico	From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in Casazza KRISTA; Roberto GIUGLIANI; Regier Debra S; Jarnes JEANINE JOURNAL OF INHERITED METABOLIC DISEASE DOI 10.1002/jimd.70134 ISSN 0141-8955	HS Biochemistry (medical)
2026	Artigo em periódico	A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil Roberto GIUGLIANI; Siqueira Ana Cecília Menezes DE; Ana Maria MARTINS; Marcondes Bianca FERNANDES; Souza Carolina Fischinger Moura DE et al Journal of Clinical Medicine DOI 10.3390/jcm15020589 ISSN 2077-0383	HS Epidemiology
2026	Artigo em periódico	Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil Cruz Carlos Robson COSTA; Poletto EDINA; Silva Larissa MOTA; Pasqualim GABRIELA; Netto Alice Brinckmann OLIVEIRA et al JOURNAL OF INHERITED METABOLIC DISEASE DOI 10.1002/jimd.70144 ISSN 0141-8955	LS Molecular Biology
2026	Artigo em periódico	Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis II enrolled in the Hunter Outcome Survey Burton Barbara K; Guffon NATHALIE; Roberts JANE; Van Der Ploeg Ans T; Jones Simon A et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2026.109734 ISSN 1096-7192	HS Endocrinology; Diabetes and Metabolism
2026	Artigo em periódico	Fabry disease cardiomyopathy: A practical guide for cardiologists Al Saleh TALA; Qadeer Yusuf KAMRAN; Yue BING; Pieroni MAURIZIO; Hachem Karim EL et al CURRENT PROBLEMS IN CARDIOLOGY DOI 10.1016/j.cpcardiol.2026.103266 ISSN 0146-2806	HS Cardiology and Cardiovascular Medicine
2026	Artigo em periódico	Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome De Souza Carolina F M; Burton Barbara K; Campeau Philippe M; Roberto GIUGLIANI; Guffon NATHALIE et al MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2026.101290 ISSN 2214-4269	HS Internal Medicine
2026	Artigo em periódico	Liposomal CRISPR/Cas9-Mediated Local Genome Editing for Joint Disease in Mucopolysaccharidosis Type I Santos Hallana SOUZA; Poletto EDINA; Roberto GIUGLIANI; Farinon MIRIAN; Kubaski FRANCYNE et al PHARMACEUTICS DOI 10.3390/pharmaceutics18030281 ISSN 1999-4923	LS Biotechnology
2025	Artigo em periódico	Clinical research in rare diseases in Brazil: challenges and opportunities Pozzebon Da Silva LARISSA; Alves Vieira TAIANE; Leiria Da Silveira GABRIELA; Roberto GIUGLIANI JOURNAL OF COMMUNITY GENETICS DOI 10.1007/s12687-025-00793-4 ISSN 1868-6001	HS Genetics (clinical)
2025	Artigo em periódico	Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review Roberto GIUGLIANI; Solomon FARYN; Kushlaf HANI; Wright ERICA; Haselkorn TMIRAH et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-025-03679-3 ISSN 1750-1172	HS Epidemiology
2025	Artigo em periódico	Expert review in diagnostic; therapeutic and follow-up of Fabry disease in Latin America based on patient care standards Roberto GIUGLIANI; Politei JUAN; Martins ANA; Murillo NELSON; Rozenfeld PAULA et al MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2025.101218 ISSN 2214-4269	HS Endocrinology; Diabetes and Metabolism
2025	Artigo em periódico	Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys Revel Vilk SHOSHANA; Ramaswami UMA; Pintos Morell GUILLEM; Hughes DERRALYNN; Nicholls KATHY et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-024-03416-2 ISSN 1750-1172	HS Pharmacology (medical)
2025	Artigo em periódico	Improving care for rare and undiagnosed diseases - The role of care pathways Brambilla SARA; Baynam GARETH; Roberto GIUGLIANI; Graessner HOLM; Padilla Carmencita D et al Rare DOI 10.1016/j.rare.2025.100076 ISSN 2950-0087	HS Medicine (miscellaneous)
2025	Artigo em periódico	Identification of gangliosides and ceramides as biomarkers for mucopolysaccharidosis type II (hunter syndrome) through untargeted lipidomic analysis Farjallah ASMA; Maranda BRUNO; Roberto GIUGLIANI; Auray Blais CHRISTIANE METABOLOMICS. (DORDRECHT. PRINT) DOI 10.1007/s11306-025-02233-3 ISSN 1573-3890	LS Biochemistry
2025	Artigo em periódico	A global survey about undiagnosed rare diseases: perspectives; challenges; and solutions Baldovino SIMONE; Sciascia SAVINO; Carta CLAUDIO; Salvatore MARCO; Cellai Laura L et al FRONTIERS IN PUBLIC HEALTH DOI 10.3389/fpubh.2025.1510818 ISSN 2296-2565	HS Public Health; Environmental and Occupational Health
2025	Artigo em periódico	Survey of Patients With Sanfilippo Type a (MPS <scp>IIIA</scp> ) Disease Diagnosed by the MPS Brazil Network Montenegro Yorran Hardman ARAÚJO; Trapp Franciele BARBOSA; Dos Santos Lopes Simone SILVA; Da Silva Karyme Beatrice LOURENÇO; Guilherme BALDO et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.64026 ISSN 1552-4825	HS Genetics (clinical)
2025	Artigo em periódico	The RDI-Lancet Commission on Rare Diseases: improving visibility to address health-care disparities for 400 million people Boycott Kym M; Roberto GIUGLIANI LANCET DOI 10.1016/S0140-6736(25)00211-9 ISSN 0140-6736	HS Health Policy
2025	Artigo em periódico	Clinical trials to gene therapy development and production in Brazil: a review Morales Saute Jonas ALEX; Picanço Castro VIRGINIA; De Freitas Lopes Ana CAROLINA; Da Silva Júnior João BATISTA; Henriques Nehm JOHANNA et al Lancet Regional Health-Americas DOI 10.1016/j.lana.2025.100995 ISSN 2667-193X	LS Biotechnology
2025	Artigo em periódico	Exploratory metabolomic profiling of plasma and urine in patients with mucopolysaccharidosis type II (Hunter syndrome): A pilot study Farjallah ASMA; Maranda BRUNO; Roberto GIUGLIANI; Auray Blais CHRISTIANE MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2025.109022 ISSN 1096-7192	LS Biochemistry
2025	Artigo em periódico	Newborn Intravenous Injection of Liposomal CRISPR/Cas9 Complex Has No Incidence of Off-Targets or Tumors in Mice Monteagudo De Barros VINICIUS; Larissa Cristina Barbosa FLORES; Melaine LOPES; Fachel Flavia Nathielly SILVEIRA; Martins Giselle RENATA et al PHARMACEUTICS DOI 10.3390/pharmaceutics17050656 ISSN 1999-4923	LS Biotechnology
2025	Artigo em periódico	Redefining the approach to rare diseases: the experience of -Casa dos Raros- in Brazil Roberto GIUGLIANI; De Oliveira Bibiana MELLO; Guaraná Bruna BAIERLE; Tonon TÁSSIA; Trapp Franciele BARBOSA et al JOURNAL OF COMMUNITY GENETICS DOI 10.1007/s12687-025-00771-w ISSN 1868-6001	HS Genetics (clinical)
2025	Artigo em periódico	Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis Fabiano De Oliveira POSWAR; Alves Tamires SILVA; De Carvalho Daniel ROCHA; Van Der Linden HÉLIO; Lourenço Charles MARQUES et al MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2025.101220 ISSN 2214-4269	HS Genetics (clinical)
2025	Artigo em periódico	Practical recommendations for diagnosis; management; and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective Dafne Dain Gandelman HOROVITZ; Pessoa ANDRÉ; França Junior Marcondes CAVALCANTE; Roberto GIUGLIANI; Souza Carolina Fischinger Moura DE et al ARQUIVOS DE NEURO-PSIQUIATRIA DOI 10.1055/s-0045-1807714 ISSN 0004-282X	HS Neurology (clinical)

2026 Artigo em periódico

HS Medicine (miscellaneous)

Female Patients With Mucopolysaccharidosis ( ): Insights From the Hunter Outcome Survey

JIMD REPORTS

Burton Barbara K; Amartino HERNAN; Roberto GIUGLIANI; Kampmann CHRISTOPH; Raiman JULIAN et al

DOI ISSN 2192-8312

2026 Artigo em periódico

HS Genetics (clinical)

Venglustat in GM2 gangliosidoses and related disorders: Results of the AMETHIST randomized controlled and basket trials

GENETICS IN MEDICINE

Tifft Cynthia J; Batsu ISABELA; Roberto GIUGLIANI; Goyeau HARMONIE; Hahn ANDREAS et al

DOI ISSN 1098-3600

2026 Artigo em periódico

HS Internal Medicine

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPSBrazil Network

Diseases

Yorran Hardman Araújo MONTENEGRO; Maria Fernanda Antero ALVES; Simone Silva Dos Santos LOPES; Carolina Fischinger Moura De SOUZA; Fabiano De Oliveira POSWAR et al

DOI ISSN 2079-9721

2026 Artigo em periódico

HS Biochemistry (medical)

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in

JOURNAL OF INHERITED METABOLIC DISEASE

Casazza KRISTA; Roberto GIUGLIANI; Regier Debra S; Jarnes JEANINE

DOI ISSN 0141-8955

2026 Artigo em periódico

HS Epidemiology

A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil

Journal of Clinical Medicine

Roberto GIUGLIANI; Siqueira Ana Cecília Menezes DE; Ana Maria MARTINS; Marcondes Bianca FERNANDES; Souza Carolina Fischinger Moura DE et al

DOI ISSN 2077-0383

2026 Artigo em periódico

LS Molecular Biology

Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil

JOURNAL OF INHERITED METABOLIC DISEASE

Cruz Carlos Robson COSTA; Poletto EDINA; Silva Larissa MOTA; Pasqualim GABRIELA; Netto Alice Brinckmann OLIVEIRA et al

DOI ISSN 0141-8955

2026 Artigo em periódico

HS Endocrinology; Diabetes and Metabolism

Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis II enrolled in the Hunter Outcome Survey

MOLECULAR GENETICS AND METABOLISM

Burton Barbara K; Guffon NATHALIE; Roberts JANE; Van Der Ploeg Ans T; Jones Simon A et al

DOI ISSN 1096-7192

2026 Artigo em periódico

HS Cardiology and Cardiovascular Medicine

Fabry disease cardiomyopathy: A practical guide for cardiologists

CURRENT PROBLEMS IN CARDIOLOGY

Al Saleh TALA; Qadeer Yusuf KAMRAN; Yue BING; Pieroni MAURIZIO; Hachem Karim EL et al

DOI ISSN 0146-2806

2026 Artigo em periódico

HS Internal Medicine

Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome

MOLECULAR GENETICS AND METABOLISM REPORTS

De Souza Carolina F M; Burton Barbara K; Campeau Philippe M; Roberto GIUGLIANI; Guffon NATHALIE et al

DOI ISSN 2214-4269

2026 Artigo em periódico

LS Biotechnology

Liposomal CRISPR/Cas9-Mediated Local Genome Editing for Joint Disease in Mucopolysaccharidosis Type I

PHARMACEUTICS

Santos Hallana SOUZA; Poletto EDINA; Roberto GIUGLIANI; Farinon MIRIAN; Kubaski FRANCYNE et al

DOI ISSN 1999-4923

2025 Artigo em periódico

HS Genetics (clinical)

Clinical research in rare diseases in Brazil: challenges and opportunities

JOURNAL OF COMMUNITY GENETICS

Pozzebon Da Silva LARISSA; Alves Vieira TAIANE; Leiria Da Silveira GABRIELA; Roberto GIUGLIANI

DOI ISSN 1868-6001

2025 Artigo em periódico

HS Epidemiology

Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review

Orphanet Journal of Rare Diseases

Roberto GIUGLIANI; Solomon FARYN; Kushlaf HANI; Wright ERICA; Haselkorn TMIRAH et al

DOI ISSN 1750-1172

2025 Artigo em periódico

HS Endocrinology; Diabetes and Metabolism

Expert review in diagnostic; therapeutic and follow-up of Fabry disease in Latin America based on patient care standards

MOLECULAR GENETICS AND METABOLISM REPORTS

Roberto GIUGLIANI; Politei JUAN; Martins ANA; Murillo NELSON; Rozenfeld PAULA et al

DOI ISSN 2214-4269

2025 Artigo em periódico

HS Pharmacology (medical)

Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys

Orphanet Journal of Rare Diseases

Revel Vilk SHOSHANA; Ramaswami UMA; Pintos Morell GUILLEM; Hughes DERRALYNN; Nicholls KATHY et al

DOI ISSN 1750-1172

2025 Artigo em periódico

HS Medicine (miscellaneous)

Improving care for rare and undiagnosed diseases - The role of care pathways

Rare

Brambilla SARA; Baynam GARETH; Roberto GIUGLIANI; Graessner HOLM; Padilla Carmencita D et al

DOI ISSN 2950-0087

2025 Artigo em periódico

LS Biochemistry

Identification of gangliosides and ceramides as biomarkers for mucopolysaccharidosis type II (hunter syndrome) through untargeted lipidomic analysis

METABOLOMICS. (DORDRECHT. PRINT)

Farjallah ASMA; Maranda BRUNO; Roberto GIUGLIANI; Auray Blais CHRISTIANE

DOI ISSN 1573-3890

2025 Artigo em periódico

HS Public Health; Environmental and Occupational Health

A global survey about undiagnosed rare diseases: perspectives; challenges; and solutions

FRONTIERS IN PUBLIC HEALTH

Baldovino SIMONE; Sciascia SAVINO; Carta CLAUDIO; Salvatore MARCO; Cellai Laura L et al

DOI ISSN 2296-2565

2025 Artigo em periódico

HS Genetics (clinical)

Survey of Patients With Sanfilippo Type a (MPS <scp>IIIA</scp> ) Disease Diagnosed by the MPS Brazil Network

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Montenegro Yorran Hardman ARAÚJO; Trapp Franciele BARBOSA; Dos Santos Lopes Simone SILVA; Da Silva Karyme Beatrice LOURENÇO; Guilherme BALDO et al

DOI ISSN 1552-4825

2025 Artigo em periódico

HS Health Policy

The RDI-Lancet Commission on Rare Diseases: improving visibility to address health-care disparities for 400 million people

LANCET

Boycott Kym M; Roberto GIUGLIANI

DOI ISSN 0140-6736

2025 Artigo em periódico

LS Biotechnology

Clinical trials to gene therapy development and production in Brazil: a review

Lancet Regional Health-Americas

Morales Saute Jonas ALEX; Picanço Castro VIRGINIA; De Freitas Lopes Ana CAROLINA; Da Silva Júnior João BATISTA; Henriques Nehm JOHANNA et al

DOI ISSN 2667-193X

2025 Artigo em periódico

LS Biochemistry

Exploratory metabolomic profiling of plasma and urine in patients with mucopolysaccharidosis type II (Hunter syndrome): A pilot study

MOLECULAR GENETICS AND METABOLISM

Farjallah ASMA; Maranda BRUNO; Roberto GIUGLIANI; Auray Blais CHRISTIANE

DOI ISSN 1096-7192

2025 Artigo em periódico

LS Biotechnology

Newborn Intravenous Injection of Liposomal CRISPR/Cas9 Complex Has No Incidence of Off-Targets or Tumors in Mice

PHARMACEUTICS

Monteagudo De Barros VINICIUS; Larissa Cristina Barbosa FLORES; Melaine LOPES; Fachel Flavia Nathielly SILVEIRA; Martins Giselle RENATA et al

DOI ISSN 1999-4923

2025 Artigo em periódico

HS Genetics (clinical)

Redefining the approach to rare diseases: the experience of -Casa dos Raros- in Brazil

JOURNAL OF COMMUNITY GENETICS

Roberto GIUGLIANI; De Oliveira Bibiana MELLO; Guaraná Bruna BAIERLE; Tonon TÁSSIA; Trapp Franciele BARBOSA et al

DOI ISSN 1868-6001

2025 Artigo em periódico

HS Genetics (clinical)

Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis

MOLECULAR GENETICS AND METABOLISM REPORTS

Fabiano De Oliveira POSWAR; Alves Tamires SILVA; De Carvalho Daniel ROCHA; Van Der Linden HÉLIO; Lourenço Charles MARQUES et al

DOI ISSN 2214-4269

2025 Artigo em periódico

HS Neurology (clinical)

Practical recommendations for diagnosis; management; and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective

ARQUIVOS DE NEURO-PSIQUIATRIA

Dafne Dain Gandelman HOROVITZ; Pessoa ANDRÉ; França Junior Marcondes CAVALCANTE; Roberto GIUGLIANI; Souza Carolina Fischinger Moura DE et al

DOI ISSN 0004-282X