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
2024	Artigo em periódico	The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil) Cardoso Dos Santos Augusto CÉSAR; Mariath Luiza MONTEAVARO; Trapp FRANCIELE; Facchin Ana Carolina BRUSIUS; Sandra LEISTNER et al JOURNAL OF COMMUNITY GENETICS DOI 10.1007/s12687-024-00718-7 ISSN 1868-6001	HS Epidemiology
2024	Artigo em periódico	Plain Language Summary of the ASCEND study looking at the results of treatment with olipudase alfa after one year in adults with acid sphingomyelinase deficiency (ASMD) Wasserstein MELISSA; Lachmann ROBIN; Roberto GIUGLIANI; Mengel EUGEN Future Rare Diseases DOI 10.1080/23995270.2024.2390352 ISSN 2399-5270	HS Internal Medicine
2024	Artigo em periódico	Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey Muenzer JOSEPH; Amartino HERNAN; Burton Barbara K; Scarpa MAURIZIO; Tylki Szyma Ska ANNA et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2024.108576 ISSN 1096-7192	HS Genetics (clinical)
2024	Artigo em periódico	Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon Delgado Vega Angelica MARIA; Cederroth HELENE; Taylan FULYA; Ekholm KATJA; Ek MARLENE et al NATURE GENETICS DOI 10.1038/s41588-024-01941-1 ISSN 1061-4036	LS Genetics
2024	Artigo em periódico	Long-term enzyme replacement therapy in Fabry patients protects against oxidative and inflammatory process Moura Alana PIMENTEL; Hammerschmidt Tatiane GRAZIELI; Guerreiro GILIAN; Aguilar CAMILA; Faverzani Jéssica LAMBERTY et al NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY DOI 10.1007/s00210-024-03499-5 ISSN 0028-1298	LS Pharmaceutical Science
2024	Artigo em periódico	Inflammation and lipoperoxidation in mucopolysaccharidoses type II patients at diagnosis and post-hematopoietic stem cell transplantation Delgado Camila AGUILAR; Lopes Franciele FÁTIMA; Faverzani Jéssica LAMBERTY; Schmitt Ribas GRAZIELA; Padilha Marchetti DESIRÈE et al CLINICAL BIOCHEMISTRY DOI 10.1016/j.clinbiochem.2024.110834 ISSN 0009-9120	HS Biochemistry (medical)
2024	Artigo em periódico	Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement Roberto GIUGLIANI; De Siqueira Ana Cecília MENEZES; Santos Emerson SANTANA; Leão Emília Katiane E A; Carvalho Gerson Da SILVA et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-024-03463-9 ISSN 1750-1172	HS Endocrinology; Diabetes and Metabolism
2024	Artigo em periódico	A natural history study of pediatric patients with early onset of GM1 gangliosidosis; GM2 gangliosidoses; or gaucher disease type 2 (RETRIEVE) Héron BÉNÉDICTE; Batzios SPYROS; Mengel EUGEN; Roberto GIUGLIANI; Patterson MARC et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-024-03409-1 ISSN 1750-1172	HS Pediatrics; Perinatology and Child Health
2024	Artigo em periódico	Development of a novel tool for individual treatment trials in mucopolysaccharidosis Wiesinger Anna MARIA; Bigger BRIAN; Roberto GIUGLIANI; Lampe CHRISTINA; Scarpa MAURIZIO et al JOURNAL OF INHERITED METABOLIC DISEASE DOI 10.1002/jimd.12816 ISSN 0141-8955	HS Medicine (miscellaneous)
2024	Artigo em periódico	A Brazilian Rare-Disease Center?s Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF Vernet Machado Bressan Wilke MATHEUS; Iop Gabrielle DINECK; Faqueti LARISSA; Lemos Da Silva Layzon ANTONIO; Kubaski FRANCYNE et al INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES DOI 10.3390/ijms25052870 ISSN 1422-0067	SH Accounting
2023	Capítulo de livro	Fabry Disease Roberto GIUGLIANI; Francyne KUBASKI; Fabiano De Oliveira POSWAR Genetic Syndromes DOI 10.1007/978-3-319-66816-1_1330-1. 2023 ISBN 9783319668	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2023	Artigo em periódico	Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA Hammerschmidt Tatiane GRAZIELI; Encarnação MARISA; Lamberty Faverzani JÉSSICA; De Fátima Lopes FRANCIELE; Fabiano De Oliveira POSWAR et al ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS DOI 10.1016/j.abb.2023.109510 ISSN 0003-9861	LS Biochemistry
2023	Artigo em periódico	Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective Têmis Maria FÉLIX; Fischinger Moura De Souza CAROLINA; Oliveira João BOSCO; Rico Restrepo MARIANA; Zanoteli EDMAR et al International Journal for Equity in Health DOI 10.1186/s12939-022-01809-y ISSN 1475-9276	HS Health Policy
2023	Artigo em periódico	Beneficial in vitro effect of N-acetylcysteine and coenzyme Q10 on DNA damage in neurodegenerative Niemann-Pick type C 1 disease: preliminary results Hammerschmidt Tatiane G; Guerreiro Gilian B; Donida BRUNA; Raabe MARCO; Kessler Rejane G et al NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY DOI 10.1007/s00210-023-02423-7 ISSN 0028-1298	LS Genetics
2023	Artigo em periódico	Ex vivo</i> gene therapy for lysosomal storage disorders: future perspectives Poletto EDINA; Silva Andrew OLIVEIRA; Weinlich RICARDO; Martin Priscila Keiko MATSUMOTO; Torres Davi COE et al EXPERT OPINION ON BIOLOGICAL THERAPY DOI 10.1080/14712598.2023.2192348 ISSN 1471-2598	HS Genetics (clinical)
2023	Artigo em periódico	Inflammatory process and oxidative/nitrative stress: in vivo study in mucopolysaccharidosis type IV A patients under long-term enzyme replacement therapy Aguilar Delgado CAMILA; Hammerschmidt TATIANE; Faverzini Jéssica LAMBERTY; Lopes FRANCIELE; Roberto GIUGLIANI et al ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS DOI 10.1016/j.abb.2023.109541 ISSN 0003-9861	LS Genetics
2023	Artigo em periódico	Leukocyte Imbalances in Mucopolysaccharidoses Patients Lopes NUNO; Maia Maria L; Pereira Cátia S; Mondragão Rodrigues INÊS; Martins ESMERALDA et al Biomedicines DOI 10.3390/biomedicines11061699 ISSN 2227-9059	HS Genetics (clinical)
2023	Artigo em periódico	<scp>GM1</scp> -gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat Bingaman AMANDA; Waggoner CHRISTINE; Andrews Sara M; Pangonis DIANA; Trad MARIE et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.63038 ISSN 1552-4825	HS Genetics (clinical)
2023	Artigo em periódico	Pilot study of newborn screening for six lysosomal diseases in Brazil Kubaski FRANCYNE; Sousa INES; Amorim TATIANA; Pereira DANILO; Silva CAMILO et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2023.107654 ISSN 1096-7192	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2023	Artigo em periódico	Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy Jacques Carlos Eduardo DIAZ; Guerreiro GILIAN; Lopes Franciele FATIMA; De Souza Carolina F MOURA; Roberto GIUGLIANI et al CELL BIOCHEMISTRY AND BIOPHYSICS DOI 10.1007/s12013-023-01149-w ISSN 1085-9195	LS Molecular Biology
2023	Artigo em periódico	Clinical Profile Among Brazilian Mucopolysaccharidosis type II Patients: Subgroup Analysis from the Hunter Outcome Survey Horovitz Dafne D G; Ribeiro Márcia G; Angelina Xavier ACOSTA; Monteiro Ana C; Botha JACO et al Journal of Inborn Errors of Metabolism and Screening DOI 10.1590/2326-4594-jiems-2023-0002 ISSN 2326-4594	HS Genetics (clinical)
2023	Artigo em periódico	Follow-up of pre-motor symptoms of Parkinson?s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF Wilke Matheus Vernet Machado BRESSAN; Fabiano De Oliveira POSWAR; Borelli Wyllians VENDRAMINI; Michelin Tirelli KRISTIANE; Randon Dévora NATALIA et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-023-02875-3 ISSN 1750-1172	HS Neurology (clinical)
2023	Artigo em periódico	Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study Bichet Daniel G; Hopkin Robert J; Aguiar PATRÍCIO; Allam Sridhar R; Chien Yin HSIU et al FRONTIERS IN MEDICINE DOI 10.3389/fmed.2023.1220637 ISSN 2296-858X	HS General Medicine
2023	Artigo em periódico	Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators Sciascia SAVINO; Roccatello DARIO; Salvatore MARCO; Carta CLAUDIO; Cellai Laura L et al FRONTIERS IN PUBLIC HEALTH DOI 10.3389/fpubh.2023.1248260 ISSN 2296-2565	HS Public Health; Environmental and Occupational Health
2023	Artigo em periódico	A Brazilian patient with late infantile metachromatic leukodystrophy treated with lentiviral hematopoietic stem-cell gene therapy: A report from prenatal diagnosis to early treatment Faqueti LARISSA; Iop GABRIELLE; Da Silva Layzon Antonio LEMOS; Kubaski FRANCYNE; Borges Henrique B L et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2022.107094 ISSN 1096-7192	LS Molecular Medicine

2024 Artigo em periódico

HS Epidemiology

The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)

JOURNAL OF COMMUNITY GENETICS

Cardoso Dos Santos Augusto CÉSAR; Mariath Luiza MONTEAVARO; Trapp FRANCIELE; Facchin Ana Carolina BRUSIUS; Sandra LEISTNER et al

DOI ISSN 1868-6001

2024 Artigo em periódico

HS Internal Medicine

Plain Language Summary of the ASCEND study looking at the results of treatment with olipudase alfa after one year in adults with acid sphingomyelinase deficiency (ASMD)

Future Rare Diseases

Wasserstein MELISSA; Lachmann ROBIN; Roberto GIUGLIANI; Mengel EUGEN

DOI ISSN 2399-5270

2024 Artigo em periódico

HS Genetics (clinical)

Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey

MOLECULAR GENETICS AND METABOLISM

Muenzer JOSEPH; Amartino HERNAN; Burton Barbara K; Scarpa MAURIZIO; Tylki Szyma Ska ANNA et al

DOI ISSN 1096-7192

2024 Artigo em periódico

LS Genetics

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

NATURE GENETICS

Delgado Vega Angelica MARIA; Cederroth HELENE; Taylan FULYA; Ekholm KATJA; Ek MARLENE et al

DOI ISSN 1061-4036

2024 Artigo em periódico

LS Pharmaceutical Science

Long-term enzyme replacement therapy in Fabry patients protects against oxidative and inflammatory process

NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY

Moura Alana PIMENTEL; Hammerschmidt Tatiane GRAZIELI; Guerreiro GILIAN; Aguilar CAMILA; Faverzani Jéssica LAMBERTY et al

DOI ISSN 0028-1298

2024 Artigo em periódico

HS Biochemistry (medical)

Inflammation and lipoperoxidation in mucopolysaccharidoses type II patients at diagnosis and post-hematopoietic stem cell transplantation

CLINICAL BIOCHEMISTRY

Delgado Camila AGUILAR; Lopes Franciele FÁTIMA; Faverzani Jéssica LAMBERTY; Schmitt Ribas GRAZIELA; Padilha Marchetti DESIRÈE et al

DOI ISSN 0009-9120

2024 Artigo em periódico

HS Endocrinology; Diabetes and Metabolism

Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement

Orphanet Journal of Rare Diseases

Roberto GIUGLIANI; De Siqueira Ana Cecília MENEZES; Santos Emerson SANTANA; Leão Emília Katiane E A; Carvalho Gerson Da SILVA et al

DOI ISSN 1750-1172

2024 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

A natural history study of pediatric patients with early onset of GM1 gangliosidosis; GM2 gangliosidoses; or gaucher disease type 2 (RETRIEVE)

Orphanet Journal of Rare Diseases

Héron BÉNÉDICTE; Batzios SPYROS; Mengel EUGEN; Roberto GIUGLIANI; Patterson MARC et al

DOI ISSN 1750-1172

2024 Artigo em periódico

HS Medicine (miscellaneous)

Development of a novel tool for individual treatment trials in mucopolysaccharidosis

JOURNAL OF INHERITED METABOLIC DISEASE

Wiesinger Anna MARIA; Bigger BRIAN; Roberto GIUGLIANI; Lampe CHRISTINA; Scarpa MAURIZIO et al

DOI ISSN 0141-8955

2024 Artigo em periódico

SH Accounting

A Brazilian Rare-Disease Center?s Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Vernet Machado Bressan Wilke MATHEUS; Iop Gabrielle DINECK; Faqueti LARISSA; Lemos Da Silva Layzon ANTONIO; Kubaski FRANCYNE et al

DOI ISSN 1422-0067

2023 Capítulo de livro

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Fabry Disease

Genetic Syndromes

Roberto GIUGLIANI; Francyne KUBASKI; Fabiano De Oliveira POSWAR

DOI ISBN 9783319668

2023 Artigo em periódico

LS Biochemistry

Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Hammerschmidt Tatiane GRAZIELI; Encarnação MARISA; Lamberty Faverzani JÉSSICA; De Fátima Lopes FRANCIELE; Fabiano De Oliveira POSWAR et al

DOI ISSN 0003-9861

2023 Artigo em periódico

HS Health Policy

Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective

International Journal for Equity in Health

Têmis Maria FÉLIX; Fischinger Moura De Souza CAROLINA; Oliveira João BOSCO; Rico Restrepo MARIANA; Zanoteli EDMAR et al

DOI ISSN 1475-9276

2023 Artigo em periódico

LS Genetics

Beneficial in vitro effect of N-acetylcysteine and coenzyme Q10 on DNA damage in neurodegenerative Niemann-Pick type C 1 disease: preliminary results

NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY

Hammerschmidt Tatiane G; Guerreiro Gilian B; Donida BRUNA; Raabe MARCO; Kessler Rejane G et al

DOI ISSN 0028-1298

2023 Artigo em periódico

HS Genetics (clinical)

Ex vivo</i> gene therapy for lysosomal storage disorders: future perspectives

EXPERT OPINION ON BIOLOGICAL THERAPY

Poletto EDINA; Silva Andrew OLIVEIRA; Weinlich RICARDO; Martin Priscila Keiko MATSUMOTO; Torres Davi COE et al

DOI ISSN 1471-2598

2023 Artigo em periódico

LS Genetics

Inflammatory process and oxidative/nitrative stress: in vivo study in mucopolysaccharidosis type IV A patients under long-term enzyme replacement therapy

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Aguilar Delgado CAMILA; Hammerschmidt TATIANE; Faverzini Jéssica LAMBERTY; Lopes FRANCIELE; Roberto GIUGLIANI et al

DOI ISSN 0003-9861

2023 Artigo em periódico

HS Genetics (clinical)

Leukocyte Imbalances in Mucopolysaccharidoses Patients

Biomedicines

Lopes NUNO; Maia Maria L; Pereira Cátia S; Mondragão Rodrigues INÊS; Martins ESMERALDA et al

DOI ISSN 2227-9059

2023 Artigo em periódico

HS Genetics (clinical)

<scp>GM1</scp> -gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Bingaman AMANDA; Waggoner CHRISTINE; Andrews Sara M; Pangonis DIANA; Trad MARIE et al

DOI ISSN 1552-4825

2023 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Pilot study of newborn screening for six lysosomal diseases in Brazil

MOLECULAR GENETICS AND METABOLISM

Kubaski FRANCYNE; Sousa INES; Amorim TATIANA; Pereira DANILO; Silva CAMILO et al

DOI ISSN 1096-7192

2023 Artigo em periódico

LS Molecular Biology

Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy

CELL BIOCHEMISTRY AND BIOPHYSICS

Jacques Carlos Eduardo DIAZ; Guerreiro GILIAN; Lopes Franciele FATIMA; De Souza Carolina F MOURA; Roberto GIUGLIANI et al

DOI ISSN 1085-9195

2023 Artigo em periódico

HS Genetics (clinical)

Clinical Profile Among Brazilian Mucopolysaccharidosis type II Patients: Subgroup Analysis from the Hunter Outcome Survey

Journal of Inborn Errors of Metabolism and Screening

Horovitz Dafne D G; Ribeiro Márcia G; Angelina Xavier ACOSTA; Monteiro Ana C; Botha JACO et al

DOI ISSN 2326-4594

2023 Artigo em periódico

HS Neurology (clinical)

Follow-up of pre-motor symptoms of Parkinson?s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF

Orphanet Journal of Rare Diseases

Wilke Matheus Vernet Machado BRESSAN; Fabiano De Oliveira POSWAR; Borelli Wyllians VENDRAMINI; Michelin Tirelli KRISTIANE; Randon Dévora NATALIA et al

DOI ISSN 1750-1172

2023 Artigo em periódico

HS General Medicine

Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study

FRONTIERS IN MEDICINE

Bichet Daniel G; Hopkin Robert J; Aguiar PATRÍCIO; Allam Sridhar R; Chien Yin HSIU et al

DOI ISSN 2296-858X

2023 Artigo em periódico

HS Public Health; Environmental and Occupational Health

Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators

FRONTIERS IN PUBLIC HEALTH

Sciascia SAVINO; Roccatello DARIO; Salvatore MARCO; Carta CLAUDIO; Cellai Laura L et al

DOI ISSN 2296-2565

2023 Artigo em periódico

LS Molecular Medicine

A Brazilian patient with late infantile metachromatic leukodystrophy treated with lentiviral hematopoietic stem-cell gene therapy: A report from prenatal diagnosis to early treatment

MOLECULAR GENETICS AND METABOLISM

Faqueti LARISSA; Iop GABRIELLE; Da Silva Layzon Antonio LEMOS; Kubaski FRANCYNE; Borges Henrique B L et al

DOI ISSN 1096-7192