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
2023	Artigo em periódico	Neonatal screening for spinal muscular atrophy: A pilot study in Brazil Oliveira Netto Alice BRINCKMANN; Brusius Facchin Ana CAROLINA; Lemos Júlia F; Pasetto Fernanda B; Brasil Carolina S et al GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION) DOI 10.1590/1678-4685-gmb-2023-0126 ISSN 1678-4685	HS Genetics (clinical)
2023	Artigo em periódico	Plain language summary of a study looking at whether genetic testing can help doctors diagnose the severity of mucopolysaccharidosis type I (MPS I) Clarke Lorne A; Roberto GIUGLIANI; Muenzer JOSEPH Future Rare Diseases DOI 10.2217/frd-2023-0013 ISSN 2399-5262	HS Genetics (clinical)
2023	Artigo em periódico	Long-term neurodevelopmental changes in subjects with MPS II following long-term treatment with pabinafusp alfa: An integrated analysis from pre- and post-approval clinical trials in Brazil and Japan Roberto GIUGLIANI; Eto YOSHIKATSU; Nakamura KIMITOSHI; Sakai NORIO; Ana Maria MARTINS et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2022.107116 ISSN 1096-7192	HS Genetics (clinical)
2023	Artigo em periódico	Training of community health agents - a strategy for earlier recognition of mucopolysaccharidoses Pedrini Diane BRESSAN; Da Silva Larissa POZZEBON; Taiane Alves VIEIRA; Roberto GIUGLIANI JOURNAL OF COMMUNITY GENETICS DOI 10.1007/s12687-023-00691-7 ISSN 1868-6001	HS Public Health; Environmental and Occupational Health
2023	Artigo em periódico	Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A; B and A/B) Geberhiwot TAREKEGN; Wasserstein MELISSA; Wanninayake SUBADRA; Bolton Shaun CHRISTOPHER; Dardis ANDREA et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-023-02686-6 ISSN 1750-1172	HS Internal Medicine
2023	Artigo em periódico	Endogenous; non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis Herbst Zackary M; Hong XINYING; Urdaneta LESLIE; Klein TERRI; Waggoner CHRISTINE et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2023.107632 ISSN 1096-7192	LS Molecular Biology
2022	Capítulo de livro	The Mucopolysaccharidoses ? An Introduction Roberto GIUGLIANI; Ramaswami U In: Lysosomal Storage Disorders ? A Practical Guide ISBN 9781119697305	HS Medicine (miscellaneous)
2022	Capítulo de livro	The Mucopolysaccharidoses ? Mucopolysaccharidosis Type VI (MPS VI) Hendriksz C; Roberto GIUGLIANI In: Lysosomal Storage Disorders ? A Practical Guide ISBN 9781119697305	HS Medicine (miscellaneous)
2022	Artigo em periódico	Sanfilippo syndrome type B: Analysis of patients diagnosed by the <scp>MPS</scp> Brazil Network Montenegro Yorran Hardman ARAÚJO; Souza Carolina Fischinger MOURA; Kubaski FRANCYNE; Trapp Franciele BARBOSA; Burin Maira GRAEFF et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.62572 ISSN 1552-4825	HS Genetics (clinical)
2022	Artigo em periódico	An observational; prospective; multicenter; natural history study of patients with mucopolysaccharidosis type IIIA Wijburg Frits A; Aiach KAREN; Chakrapani ANUPAM; Eisengart Julie B; Roberto GIUGLIANI et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2021.12.002 ISSN 1096-7192	LS Genetics
2022	Artigo em periódico	Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy Poswar Fabiano De OLIVEIRA; Santos Hallana SOUZA; Santos Angela Barreto SANTIAGO; Berger Solano VINICIUS; Souza Carolina Fischinger Moura DE et al FRONTIERS IN CARDIOVASCULAR MEDICINE DOI 10.3389/fcvm.2021.801147 ISSN 2297-055X	HS Medicine (miscellaneous)
2022	Artigo em periódico	Plasma neurofilament light; glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients Welford Richard W D; Farine HERVE; Steiner MICHEL; Garzotti MARCO; Dobrenis KOSTANTIN et al MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2022.100843 ISSN 2214-4269	LS Genetics
2022	Artigo em periódico	Brain and visceral gene editing of mucopolysaccharidosis I mice by nasal delivery of the CRISPR/Cas9 system Roberto GIUGLIANI; Schuh Roselena SILVESTRI; Fachel Flavia Nathielly SILVEIRA; Poletto EDINA; Piovesan EDUARDA et al JOURNAL OF GENE MEDICINE DOI 10.1002/jgm.3410 ISSN 1099-498X	LS Genetics
2022	Artigo em periódico	Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts? perspectives Roberto GIUGLIANI; Marques SANDRA; Andrade Luis G M DE; Pessoa ANDRÉ; Vaisbich Maria H et al Journal of Inborn Errors of Metabolism and Screening DOI 10.1590/2326-4594-jiems-2021-0028 ISSN 2326-4594	HS Genetics (clinical)
2022	Artigo em periódico	Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) Félix Têmis MARIA; De Oliveira Bibiana MELLO; Artifon MILENA; Carvalho ISABELLE; Bernardi Filipe ANDRADE et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-022-02254-4 ISSN 1750-1172	HS Epidemiology
2022	Artigo em periódico	Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry Gabriel CIVALLERO; Kubaski FRANCYNE; Pereira DANILO; Rübensam GABRIEL; Herbst Zackary M et al MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2022.100888 ISSN 2214-4269	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2022	Artigo em periódico	The impact of COVID-19 on Brazilian children with MPS: Advocate group perspective Oliveira Maria Carolina F A; Yund Brianna D; Grant NATHAN; Eisengart Julie B; Roberto GIUGLIANI MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2021.11.238 ISSN 1096-7192	SH Social Sciences (miscellaneous)
2022	Artigo em periódico	Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report Andrade ISADORA; Ribeiro RIVER; Carneiro Zumira A; Roberto GIUGLIANI; Pereira CATARINA et al JOURNAL OF MEDICAL CASE REPORTS DOI 10.1186/s13256-021-03240-3 ISSN 1752-1947	HS Genetics (clinical)
2022	Artigo em periódico	Twenty years of the Fabry Outcome Survey (FOS): insights; achievements; and lessons learned from a global patient registry Beck MICHAEL; Ramaswami UMA; Hernberg Ståhl ELIZABETH; Hughes Derralynn A; Kampmann CHRISTOPH et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-022-02392-9 ISSN 1750-1172	HS Medicine (miscellaneous)
2022	Artigo em periódico	The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy Wiesinger Anna MARIA; Bigger BRIAN; Roberto GIUGLIANI; Scarpa MAURIZIO; Moser TOBIAS et al Frontiers in Pharmacology DOI 10.3389/fphar.2022.863667 ISSN 1663-9812	HS Pharmacology (medical)
2022	Artigo em periódico	COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil Sebastião Fernanda MEDEIROS; Kristiane Michelin TIRELLI; Bender FERNANDA; Lopes Franciele FÁTIMA; Moraes INAMARA et al GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION) DOI 10.1590/1678-4685-gmb-2021-0253 ISSN 1678-4685	HS Genetics (clinical)
2022	Artigo em periódico	Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy Kubaski FRANCYNE; Herbst Zackary M; Maira Graeff BURIN; Kristiane Michelin TIRELLI; Trapp Franciele B et al JIMD REPORTS DOI 10.1002/jmd2.12270 ISSN 2192-8312	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2022	Artigo em periódico	Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB Okur ILYAS; Ezgu FATIH; Roberto GIUGLIANI; Muschol NICOLE; Koehn ANJA et al JOURNAL OF PEDIATRICS DOI 10.1016/j.jpeds.2022.06.005 ISSN 0022-3476	HS Pediatrics; Perinatology and Child Health
2022	Artigo em periódico	A randomized; placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results Wasserstein MELISSA; Lachmann ROBIN; Hollak CARLA; Arash Kaps LAILA; Barbato ANTONIO et al GENETICS IN MEDICINE DOI 10.1016/j.gim.2022.03.021 ISSN 1098-3600	HS Genetics (clinical)
2022	Artigo em periódico	Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome) Fabiano De Oliveira POSWAR; Henriques Nehm JOHANNA; Kubaski FRANCYNE; Poletto EDINA; Roberto GIUGLIANI Therapeutics and Clinical Risk Management DOI 10.2147/tcrm.s351300 ISSN 1178-203X	LS Genetics

2023 Artigo em periódico

HS Genetics (clinical)

Neonatal screening for spinal muscular atrophy: A pilot study in Brazil

GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION)

Oliveira Netto Alice BRINCKMANN; Brusius Facchin Ana CAROLINA; Lemos Júlia F; Pasetto Fernanda B; Brasil Carolina S et al

DOI ISSN 1678-4685

2023 Artigo em periódico

HS Genetics (clinical)

Plain language summary of a study looking at whether genetic testing can help doctors diagnose the severity of mucopolysaccharidosis type I (MPS I)

Future Rare Diseases

Clarke Lorne A; Roberto GIUGLIANI; Muenzer JOSEPH

DOI ISSN 2399-5262

2023 Artigo em periódico

HS Genetics (clinical)

Long-term neurodevelopmental changes in subjects with MPS II following long-term treatment with pabinafusp alfa: An integrated analysis from pre- and post-approval clinical trials in Brazil and Japan

MOLECULAR GENETICS AND METABOLISM

Roberto GIUGLIANI; Eto YOSHIKATSU; Nakamura KIMITOSHI; Sakai NORIO; Ana Maria MARTINS et al

DOI ISSN 1096-7192

2023 Artigo em periódico

HS Public Health; Environmental and Occupational Health

Training of community health agents - a strategy for earlier recognition of mucopolysaccharidoses

JOURNAL OF COMMUNITY GENETICS

Pedrini Diane BRESSAN; Da Silva Larissa POZZEBON; Taiane Alves VIEIRA; Roberto GIUGLIANI

DOI ISSN 1868-6001

2023 Artigo em periódico

HS Internal Medicine

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A; B and A/B)

Orphanet Journal of Rare Diseases

Geberhiwot TAREKEGN; Wasserstein MELISSA; Wanninayake SUBADRA; Bolton Shaun CHRISTOPHER; Dardis ANDREA et al

DOI ISSN 1750-1172

2023 Artigo em periódico

LS Molecular Biology

Endogenous; non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis

MOLECULAR GENETICS AND METABOLISM

Herbst Zackary M; Hong XINYING; Urdaneta LESLIE; Klein TERRI; Waggoner CHRISTINE et al

DOI ISSN 1096-7192

2022 Capítulo de livro

HS Medicine (miscellaneous)

The Mucopolysaccharidoses ? An Introduction

In: Lysosomal Storage Disorders ? A Practical Guide

Roberto GIUGLIANI; Ramaswami U

ISBN 9781119697305

2022 Capítulo de livro

HS Medicine (miscellaneous)

The Mucopolysaccharidoses ? Mucopolysaccharidosis Type VI (MPS VI)

In: Lysosomal Storage Disorders ? A Practical Guide

Hendriksz C; Roberto GIUGLIANI

ISBN 9781119697305

2022 Artigo em periódico

HS Genetics (clinical)

Sanfilippo syndrome type B: Analysis of patients diagnosed by the <scp>MPS</scp> Brazil Network

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Montenegro Yorran Hardman ARAÚJO; Souza Carolina Fischinger MOURA; Kubaski FRANCYNE; Trapp Franciele BARBOSA; Burin Maira GRAEFF et al

DOI ISSN 1552-4825

2022 Artigo em periódico

LS Genetics

An observational; prospective; multicenter; natural history study of patients with mucopolysaccharidosis type IIIA

MOLECULAR GENETICS AND METABOLISM

Wijburg Frits A; Aiach KAREN; Chakrapani ANUPAM; Eisengart Julie B; Roberto GIUGLIANI et al

DOI ISSN 1096-7192

2022 Artigo em periódico

HS Medicine (miscellaneous)

Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy

FRONTIERS IN CARDIOVASCULAR MEDICINE

Poswar Fabiano De OLIVEIRA; Santos Hallana SOUZA; Santos Angela Barreto SANTIAGO; Berger Solano VINICIUS; Souza Carolina Fischinger Moura DE et al

DOI ISSN 2297-055X

2022 Artigo em periódico

LS Genetics

Plasma neurofilament light; glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients

MOLECULAR GENETICS AND METABOLISM REPORTS

Welford Richard W D; Farine HERVE; Steiner MICHEL; Garzotti MARCO; Dobrenis KOSTANTIN et al

DOI ISSN 2214-4269

2022 Artigo em periódico

LS Genetics

Brain and visceral gene editing of mucopolysaccharidosis I mice by nasal delivery of the CRISPR/Cas9 system

JOURNAL OF GENE MEDICINE

Roberto GIUGLIANI; Schuh Roselena SILVESTRI; Fachel Flavia Nathielly SILVEIRA; Poletto EDINA; Piovesan EDUARDA et al

DOI ISSN 1099-498X

2022 Artigo em periódico

HS Genetics (clinical)

Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts? perspectives

Journal of Inborn Errors of Metabolism and Screening

Roberto GIUGLIANI; Marques SANDRA; Andrade Luis G M DE; Pessoa ANDRÉ; Vaisbich Maria H et al

DOI ISSN 2326-4594

2022 Artigo em periódico

HS Epidemiology

Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

Orphanet Journal of Rare Diseases

Félix Têmis MARIA; De Oliveira Bibiana MELLO; Artifon MILENA; Carvalho ISABELLE; Bernardi Filipe ANDRADE et al

DOI ISSN 1750-1172

2022 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry

MOLECULAR GENETICS AND METABOLISM REPORTS

Gabriel CIVALLERO; Kubaski FRANCYNE; Pereira DANILO; Rübensam GABRIEL; Herbst Zackary M et al

DOI ISSN 2214-4269

2022 Artigo em periódico

SH Social Sciences (miscellaneous)

The impact of COVID-19 on Brazilian children with MPS: Advocate group perspective

MOLECULAR GENETICS AND METABOLISM

Oliveira Maria Carolina F A; Yund Brianna D; Grant NATHAN; Eisengart Julie B; Roberto GIUGLIANI

DOI ISSN 1096-7192

2022 Artigo em periódico

HS Genetics (clinical)

Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report

JOURNAL OF MEDICAL CASE REPORTS

Andrade ISADORA; Ribeiro RIVER; Carneiro Zumira A; Roberto GIUGLIANI; Pereira CATARINA et al

DOI ISSN 1752-1947

2022 Artigo em periódico

HS Medicine (miscellaneous)

Twenty years of the Fabry Outcome Survey (FOS): insights; achievements; and lessons learned from a global patient registry

Orphanet Journal of Rare Diseases

Beck MICHAEL; Ramaswami UMA; Hernberg Ståhl ELIZABETH; Hughes Derralynn A; Kampmann CHRISTOPH et al

DOI ISSN 1750-1172

2022 Artigo em periódico

HS Pharmacology (medical)

The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy

Frontiers in Pharmacology

Wiesinger Anna MARIA; Bigger BRIAN; Roberto GIUGLIANI; Scarpa MAURIZIO; Moser TOBIAS et al

DOI ISSN 1663-9812

2022 Artigo em periódico

HS Genetics (clinical)

COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil

GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION)

Sebastião Fernanda MEDEIROS; Kristiane Michelin TIRELLI; Bender FERNANDA; Lopes Franciele FÁTIMA; Moraes INAMARA et al

DOI ISSN 1678-4685

2022 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy

JIMD REPORTS

Kubaski FRANCYNE; Herbst Zackary M; Maira Graeff BURIN; Kristiane Michelin TIRELLI; Trapp Franciele B et al

DOI ISSN 2192-8312

2022 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB

JOURNAL OF PEDIATRICS

Okur ILYAS; Ezgu FATIH; Roberto GIUGLIANI; Muschol NICOLE; Koehn ANJA et al

DOI ISSN 0022-3476

2022 Artigo em periódico

HS Genetics (clinical)

A randomized; placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results

GENETICS IN MEDICINE

Wasserstein MELISSA; Lachmann ROBIN; Hollak CARLA; Arash Kaps LAILA; Barbato ANTONIO et al

DOI ISSN 1098-3600

2022 Artigo em periódico

LS Genetics

Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome)

Therapeutics and Clinical Risk Management

Fabiano De Oliveira POSWAR; Henriques Nehm JOHANNA; Kubaski FRANCYNE; Poletto EDINA; Roberto GIUGLIANI

DOI ISSN 1178-203X