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
2021	Artigo em periódico	Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data Roberto GIUGLIANI; Ana Maria MARTINS; Okuyama TORAYUKI; Eto YOSHIKATSU; Sakai NORIO et al INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES DOI 10.3390/ijms222010938 ISSN 1422-0067	LS Molecular Biology
2021	Artigo em periódico	Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS) Muenzer JOSEPH; Botha JACO; Harmatz PAUL; Roberto GIUGLIANI; Kampmann CHRISTOPH et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-021-02052-4 ISSN 1750-1172	HS Genetics (clinical)
2021	Artigo em periódico	Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing Oliveira Netto Alice BRINCKMANN; Brusius Facchin Ana CAROLINA; Sandra Leistner SEGAL; Kubaski FRANCYNE; Josahkian JULIANA et al FRONTIERS IN MOLECULAR BIOSCIENCES DOI 10.3389/fmolb.2021.789350 ISSN 2296-889X	HS Genetics (clinical)
2021	Artigo em periódico	International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study Evans WILLIAM; Platt FRANCES; Guldberg CHRISTINA; Mathieson TONI; Pacey JESSICA et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-021-02115-6 ISSN 1750-1172	HS General Medicine
2021	Artigo em periódico	Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation Mcgovern Margaret M; Wasserstein Melissa P; Bembi BRUNO; Roberto GIUGLIANI; Mengel K EUGEN et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-021-01842-0 ISSN 1750-1172	HS Genetics (clinical)
2021	Artigo em periódico	One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency Diaz George A; Jones Simon A; Scarpa MAURIZIO; Mengel Karl EUGEN; Roberto GIUGLIANI et al GENETICS IN MEDICINE DOI 10.1038/s41436-021-01156-3 ISSN 1098-3600	HS Genetics (clinical)
2021	Artigo em periódico	Informing patients with rare diseases about COVID-19: Creation of the -Beto and the Coronavirus- booklet Wilke Matheus V; De Souza Carolina Fischinger MOURA; Roberto GIUGLIANI; Schwartz Ida V MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2020.12.276 ISSN 1096-7192	LS Genetics
2021	Artigo em periódico	Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct <scp> GLB1</i> </scp> -related phenotype Stockler Ipsiroglu SYLVIA; Yazdanpanah NAHID; Yazdanpanah MOJGAN; Moisa Popurs MARIOARA; Yuskiv NATALIYA et al JIMD REPORTS DOI 10.1002/jmd2.12211 ISSN 2192-8312	HS Genetics (clinical)
2021	Artigo em periódico	A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide Mehta ATUL; Ramaswami UMA; Muenzer JOSEPH; Roberto GIUGLIANI; Ullrich KURT et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-020-01645-9 ISSN 1750-1172	HS Genetics (clinical)
2021	Artigo em periódico	Disruption of morphogenic and growth pathways in lysosomal storage diseases Corrêa THIAGO; Feltes Bruno C; Roberto GIUGLIANI; Ursula Da Silveira MATTE WIREs Mechanisms of Disease DOI 10.1002/wsbm.1521 ISSN 2692-9368	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2021	Artigo em periódico	MPSBase: Comprehensive repository of differentially expressed genes for mucopolysaccharidoses Soares Luís Dias FERREIRA; Villalba Silva Gerda CRISTAL; Kubaski FRANCYNE; Roberto GIUGLIANI; Ursula Da Silveira MATTE MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2021.06.004 ISSN 1096-7192	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2021	Artigo em periódico	Cardiac pathology in mucopolysaccharidosis I mice: Losartan modifies <scp>ERK1</scp> /2 activation during cardiac remodeling Gonzalez Esteban ALBERTO; Tobar Leitão Santiago ALONSO; Soares Douglas Dos SANTOS; Tavares Angela Maria VICENTE; Roberto GIUGLIANI et al JOURNAL OF INHERITED METABOLIC DISEASE DOI 10.1002/jimd.12327 ISSN 0141-8955	LS Physiology
2021	Artigo em periódico	Iduronate-2-sulfatase fused with anti-hTfR antibody; pabinafusp alfa; for MPS-II: A phase 2 trial in Brazil Roberto GIUGLIANI; Ana Maria MARTINS; So SAIREI; Yamamoto TATSUYOSHI; Yamaoka MARIKO et al MOLECULAR THERAPY DOI 10.1016/j.ymthe.2021.03.019 ISSN 1525-0016	HS Medicine (miscellaneous)
2021	Artigo em periódico	Difficulties in the Diagnosis of Gaucher Disease in a Low-Income Country: A Case Report from Mozambique Pinto FÉLIX; Nassone EMA; Ismail MUHAMMAD; Jamisse ASTRILDE; Kubaski FRANCYNE et al Journal of Inborn Errors of Metabolism and Screening DOI 10.1590/2326-4594-jiems-2020-0022 ISSN 2326-4594	HS Medicine (miscellaneous)
2021	Artigo em periódico	Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus Moreno Martinez D; Aguiar P; Auray Blais C; Michael BECK; Bichet D G et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2021.02.001 ISSN 1096-7192	HS Genetics (clinical)
2020	Artigo em periódico	Nanoparticles containing β-cyclodextrin potentially useful for the treatment of Niemann-Pick C Donida BRUNA; Raabe MARCO; Tauffner BÁRBARA; Farias Marcelo A; Machado Andryele Z et al JOURNAL OF INHERITED METABOLIC DISEASE DOI 10.1002/jimd.12210 ISSN 0141-8955	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2020	Artigo em periódico	Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease Sidhu ROHINI; Kell PAMELA; Dietzen Dennis J; Farhat Nicole Y; Do An Ngoc DANG et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2020.01.007 ISSN 1096-7192	HS Genetics (clinical)
2020	Artigo em periódico	Estimated birth prevalence of mucopolysaccharidoses in Brazil Andressa FEDERHEN; Pasqualim GABRIELA; Freitas Talita FREITAS; Gonzalez Esteban ALBERTO; Trapp FRANCIELE et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.61456 ISSN 1552-4825	HS Genetics (clinical)
2020	Artigo em periódico	Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy Gonzalez Esteban A; Visioli FERNANDA; Pasqualim GABRIELA; Souza Carolina F M; Marinho Diane R et al CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY DOI 10.1111/ceo.13713 ISSN 1442-6404	HS Radiology; Nuclear Medicine and Imaging
2020	Artigo em periódico	Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods Sebastião FERNANDA; Burin M; Civallero G; Kristiane Michelin TIRELLI; Angela SITTA et al JOURNAL OF INHERITED METABOLIC DISEASE DOI 10.1590/2323-4594-JIEMS-2019-0011 ISSN 0141-8955	HS Endocrinology; Diabetes and Metabolism
2020	Artigo em periódico	Long-term survival outcomes of patients with disease type C receiving miglustat treatment: A large retrospective observational study Patterson Marc C; Garver William S; Roberto GIUGLIANI; Imrie JACKIE; Jahnova HELENA et al JOURNAL OF INHERITED METABOLIC DISEASE DOI 10.1002/jimd.12245 ISSN 0141-8955	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2020	Artigo em periódico	Assessing the impact of the five senses on quality of life in mucopolysaccharidoses Roberto GIUGLIANI; Harmatz PAUL; Lin Shuan PEI; Scarpa MAURIZIO Orphanet Journal of Rare Diseases DOI 10.1186/s13023-020-01368-x ISSN 1750-1172	HS Medicine (miscellaneous)
2020	Artigo em periódico	Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer Palmero Edenir INÊZ; Campacci NATALIA; Schüler Faccini LAVINIA; Roberto GIUGLIANI; Rocha José Claudio Casali DA et al GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION) DOI 10.1590/1678-4685-gmb-2019-0097 ISSN 1678-4685	LS Genetics
2020	Artigo em periódico	Precision Medicine for Lysosomal Disorders Filippo Pinto E VAIRO; Rojas Málaga DIANA; Kubaski FRANCYNE; Fischinger Moura De Souza CAROLINA; De Oliveira Poswar FABIANO et al BIOMOLECULES DOI 10.3390/biom10081110 ISSN 2218-273X	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2020	Artigo em periódico	Diagnosis of Mucopolysaccharidoses Kubaski FRANCYNE; De Oliveira Poswar FABIANO; Kristiane Michelin TIRELLI; Maira Graeff BURIN; Rojas Málaga DIANA et al Diagnostics DOI 10.3390/diagnostics10030172 ISSN 2075-4418	HS Medicine (miscellaneous)

2021 Artigo em periódico

LS Molecular Biology

Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Roberto GIUGLIANI; Ana Maria MARTINS; Okuyama TORAYUKI; Eto YOSHIKATSU; Sakai NORIO et al

DOI ISSN 1422-0067

2021 Artigo em periódico

HS Genetics (clinical)

Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)

Orphanet Journal of Rare Diseases

Muenzer JOSEPH; Botha JACO; Harmatz PAUL; Roberto GIUGLIANI; Kampmann CHRISTOPH et al

DOI ISSN 1750-1172

2021 Artigo em periódico

HS Genetics (clinical)

Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing

FRONTIERS IN MOLECULAR BIOSCIENCES

Oliveira Netto Alice BRINCKMANN; Brusius Facchin Ana CAROLINA; Sandra Leistner SEGAL; Kubaski FRANCYNE; Josahkian JULIANA et al

DOI ISSN 2296-889X

2021 Artigo em periódico

HS General Medicine

International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study

Orphanet Journal of Rare Diseases

Evans WILLIAM; Platt FRANCES; Guldberg CHRISTINA; Mathieson TONI; Pacey JESSICA et al

DOI ISSN 1750-1172

2021 Artigo em periódico

HS Genetics (clinical)

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation

Orphanet Journal of Rare Diseases

Mcgovern Margaret M; Wasserstein Melissa P; Bembi BRUNO; Roberto GIUGLIANI; Mengel K EUGEN et al

DOI ISSN 1750-1172

2021 Artigo em periódico

HS Genetics (clinical)

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

GENETICS IN MEDICINE

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

DOI ISSN 1098-3600

2021 Artigo em periódico

LS Genetics

Informing patients with rare diseases about COVID-19: Creation of the -Beto and the Coronavirus- booklet

MOLECULAR GENETICS AND METABOLISM

Wilke Matheus V; De Souza Carolina Fischinger MOURA; Roberto GIUGLIANI; Schwartz Ida V

DOI ISSN 1096-7192

2021 Artigo em periódico

HS Genetics (clinical)

Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct <scp> GLB1</i> </scp> -related phenotype

JIMD REPORTS

Stockler Ipsiroglu SYLVIA; Yazdanpanah NAHID; Yazdanpanah MOJGAN; Moisa Popurs MARIOARA; Yuskiv NATALIYA et al

DOI ISSN 2192-8312

2021 Artigo em periódico

HS Genetics (clinical)

A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide

Orphanet Journal of Rare Diseases

Mehta ATUL; Ramaswami UMA; Muenzer JOSEPH; Roberto GIUGLIANI; Ullrich KURT et al

DOI ISSN 1750-1172

2021 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Disruption of morphogenic and growth pathways in lysosomal storage diseases

WIREs Mechanisms of Disease

Corrêa THIAGO; Feltes Bruno C; Roberto GIUGLIANI; Ursula Da Silveira MATTE

DOI ISSN 2692-9368

2021 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

MPSBase: Comprehensive repository of differentially expressed genes for mucopolysaccharidoses

MOLECULAR GENETICS AND METABOLISM

Soares Luís Dias FERREIRA; Villalba Silva Gerda CRISTAL; Kubaski FRANCYNE; Roberto GIUGLIANI; Ursula Da Silveira MATTE

DOI ISSN 1096-7192

2021 Artigo em periódico

LS Physiology

Cardiac pathology in mucopolysaccharidosis I mice: Losartan modifies <scp>ERK1</scp> /2 activation during cardiac remodeling

JOURNAL OF INHERITED METABOLIC DISEASE

Gonzalez Esteban ALBERTO; Tobar Leitão Santiago ALONSO; Soares Douglas Dos SANTOS; Tavares Angela Maria VICENTE; Roberto GIUGLIANI et al

DOI ISSN 0141-8955

2021 Artigo em periódico

HS Medicine (miscellaneous)

Iduronate-2-sulfatase fused with anti-hTfR antibody; pabinafusp alfa; for MPS-II: A phase 2 trial in Brazil

MOLECULAR THERAPY

Roberto GIUGLIANI; Ana Maria MARTINS; So SAIREI; Yamamoto TATSUYOSHI; Yamaoka MARIKO et al

DOI ISSN 1525-0016

2021 Artigo em periódico

HS Medicine (miscellaneous)

Difficulties in the Diagnosis of Gaucher Disease in a Low-Income Country: A Case Report from Mozambique

Journal of Inborn Errors of Metabolism and Screening

Pinto FÉLIX; Nassone EMA; Ismail MUHAMMAD; Jamisse ASTRILDE; Kubaski FRANCYNE et al

DOI ISSN 2326-4594

2021 Artigo em periódico

HS Genetics (clinical)

Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus

MOLECULAR GENETICS AND METABOLISM

Moreno Martinez D; Aguiar P; Auray Blais C; Michael BECK; Bichet D G et al

DOI ISSN 1096-7192

2020 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Nanoparticles containing β-cyclodextrin potentially useful for the treatment of Niemann-Pick C

JOURNAL OF INHERITED METABOLIC DISEASE

Donida BRUNA; Raabe MARCO; Tauffner BÁRBARA; Farias Marcelo A; Machado Andryele Z et al

DOI ISSN 0141-8955

2020 Artigo em periódico

HS Genetics (clinical)

Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease

MOLECULAR GENETICS AND METABOLISM

Sidhu ROHINI; Kell PAMELA; Dietzen Dennis J; Farhat Nicole Y; Do An Ngoc DANG et al

DOI ISSN 1096-7192

2020 Artigo em periódico

HS Genetics (clinical)

Estimated birth prevalence of mucopolysaccharidoses in Brazil

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Andressa FEDERHEN; Pasqualim GABRIELA; Freitas Talita FREITAS; Gonzalez Esteban ALBERTO; Trapp FRANCIELE et al

DOI ISSN 1552-4825

2020 Artigo em periódico

HS Radiology; Nuclear Medicine and Imaging

Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy

CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Gonzalez Esteban A; Visioli FERNANDA; Pasqualim GABRIELA; Souza Carolina F M; Marinho Diane R et al

DOI ISSN 1442-6404

2020 Artigo em periódico

HS Endocrinology; Diabetes and Metabolism

Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods

JOURNAL OF INHERITED METABOLIC DISEASE

Sebastião FERNANDA; Burin M; Civallero G; Kristiane Michelin TIRELLI; Angela SITTA et al

DOI ISSN 0141-8955

2020 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Long-term survival outcomes of patients with disease type C receiving miglustat treatment: A large retrospective observational study

JOURNAL OF INHERITED METABOLIC DISEASE

Patterson Marc C; Garver William S; Roberto GIUGLIANI; Imrie JACKIE; Jahnova HELENA et al

DOI ISSN 0141-8955

2020 Artigo em periódico

HS Medicine (miscellaneous)

Assessing the impact of the five senses on quality of life in mucopolysaccharidoses

Orphanet Journal of Rare Diseases

Roberto GIUGLIANI; Harmatz PAUL; Lin Shuan PEI; Scarpa MAURIZIO

DOI ISSN 1750-1172

2020 Artigo em periódico

LS Genetics

Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer

GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION)

Palmero Edenir INÊZ; Campacci NATALIA; Schüler Faccini LAVINIA; Roberto GIUGLIANI; Rocha José Claudio Casali DA et al

DOI ISSN 1678-4685

2020 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Precision Medicine for Lysosomal Disorders

BIOMOLECULES

Filippo Pinto E VAIRO; Rojas Málaga DIANA; Kubaski FRANCYNE; Fischinger Moura De Souza CAROLINA; De Oliveira Poswar FABIANO et al

DOI ISSN 2218-273X

2020 Artigo em periódico

HS Medicine (miscellaneous)

Diagnosis of Mucopolysaccharidoses

Diagnostics

Kubaski FRANCYNE; De Oliveira Poswar FABIANO; Kristiane Michelin TIRELLI; Maira Graeff BURIN; Rojas Málaga DIANA et al

DOI ISSN 2075-4418