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
2019	Artigo em periódico	Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart Brusius Facchin Ana CAROLINA; Marina SIEBERT; Leão DELVA; Malaga Diana ROJAS; Pasqualim GABRIELA et al GENETICS AND MOLECULAR BIOLOGY DOI 10.1590/1678-4685-gmb-2018-0102 ISSN 1415-4757	HS Genetics (clinical)
2019	Artigo em periódico	Medical Genetics - Special issue dedicated to the 35th anniversary of the Medical Genetics Service; Hospital de Clínicas de Porto Alegre; Brazil Roberto GIUGLIANI GENETICS AND MOLECULAR BIOLOGY DOI 10.1590/1678-4685-gmb-2019-00040001 ISSN 1415-4757	HS Genetics (clinical)
2019	Artigo em periódico	Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases Poletto EDINA; Pasqualim GABRIELA; Roberto GIUGLIANI; Ursula Da Silveira MATTE; Guilherme BALDO GENETICS AND MOLECULAR BIOLOGY DOI 10.1590/1678-4685-gmb-2018-0100 ISSN 1415-4757	HS Medicine (miscellaneous)
2019	Artigo em periódico	Clinical research challenges in rare genetic diseases in Brazil Giugliani LUCIANA; Vanzella CLAUDIA; Zambrano Marina BAUER; Donis Karina CARVALHO; Wallau Thaís Klassmann WENDLAND et al GENETICS AND MOLECULAR BIOLOGY DOI 10.1590/1678-4685-gmb-2018-0174 ISSN 1415-4757	LS Genetics
2019	Artigo em periódico	Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular; respiratory; and bone disease features of the mucopolysaccharidosis I phenotype in mice Schuh Roselena SILVESTRI; Gonzalez Esteban ALBERTO; Tavares Angela Maria VICENTE; Seolin Bruna GAZZI; Elias Lais De SOUZA et al GENE THERAPY DOI 10.1038/s41434-019-0113-4 ISSN 0969-7128	LS Biotechnology
2019	Artigo em periódico	Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria Pino GISELE; Conboy ERIN; Tortorelli SILVIA; Minnich SARA; Nickander KIM et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2019.10.009 ISSN 1096-7192	LS Genetics
2019	Artigo em periódico	<p>Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis</p> Ramaswami UMA; Beck MICHAEL; Hughes DERRALYNN; Kampmann CHRISTOPH; Botha JACO et al Drug Design Development and Therapy DOI 10.2147/DDDT.S207856 ISSN 1177-8881	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2019	Artigo em periódico	Characterization of glycan substrates accumulating in GM1 Gangliosidosis Lawrence ROGER; Van Vleet Jeremy L; Mangini LINLEY; Harris ADAM; Martin NATHAN et al MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2019.100524 ISSN 2214-4269	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2019	Artigo em periódico	The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease Schiffmann RAPHAEL; Bichet Daniel G; Benjamin ELFRIDA; Wu XIAOYANG; Roberto GIUGLIANI MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2019.100494 ISSN 2214-4269	LS Genetics
2019	Artigo em periódico	Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance Akyol Mehmet UMUT; Alden Tord D; Amartino HERNAN; Ashworth JANE; Belani KUMAR et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-019-1080-y ISSN 1750-1172	HS Internal Medicine
2019	Artigo em periódico	Lysosomal diseases: Overview on current diagnosis and treatment Poswar Fabiano De OLIVEIRA; Vairo FILIPPO; Maira BURIN; Kristiane Michelin TIRELLI; Brusius Facchin Ana CAROLINA et al GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION) DOI 10.1590/1678-4685-gmb-2018-0159 ISSN 1678-4685	LS Genetics
2019	Artigo em periódico	Clinical findings in Brazilian patients with adult GM1 gangliosidosis Giugliani LUCIANA; Steiner Carlos EDUARDO; Kim Chong AE; Lourenço Charles MARQUES; Santos Mara Lucia Schmitz FERREIRA et al JIMD REPORTS DOI 10.1002/jmd2.12067 ISSN 2192-8312	HS Genetics (clinical)
2018	Capítulo de livro	Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients Cox Gerald F; Clarke Lorne A; Roberto GIUGLIANI; Mcgovern Margaret M JIMD Reports DOI 10.1007/8904_2018_120 ISBN 9783662580806	HS Medicine (miscellaneous)
2018	Artigo em periódico	Gene editing of MPS I human fibroblasts by co-delivery of a CRISPR/Cas9 plasmid and a donor oligonucleotide using nanoemulsions as nonviral carriers Schuh Roselena SILVESTRI; Talita Giacomet De CARVALHO; Roberto GIUGLIANI; Matte URSULA; Baldo GUILHERME et al EUROPEAN JOURNAL OF PHARMACEUTICS AND BIOPHARMACEUTICS DOI 10.1016/j.ejpb.2017.10.017 ISSN 0939-6411	LS Molecular Biology
2018	Artigo em periódico	Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events Beck MICHAEL; Hughes DERRALYNN; Kampmann CHRISTOPH; Pintos Morell GUILLEM; Ramaswami UMA et al MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2017.10.008 ISSN 2214-4269	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2018	Artigo em periódico	Simple and efficient screening of patients with Fabry disease with high resolution melting Pasqualim GABRIELA; Dos Santos Bruna ALMEIDA; Roberto GIUGLIANI; Ursula Da Silveira MATTE CLINICAL BIOCHEMISTRY DOI 10.1016/j.clinbiochem.2018.01.002 ISSN 0009-9120	HS Pediatrics; Perinatology and Child Health
2018	Artigo em periódico	A simple protocol for transfecting human mesenchymal stem cells De Carvalho Talita GIACOMET; Pellenz Felipe MATHEUS; Laureano ALVARO; Da Rocha Silla Lucia MARIANO; Roberto GIUGLIANI et al BIOTECHNOLOGY LETTERS DOI 10.1007/s10529-018-2505-8 ISSN 0141-5492	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2018	Artigo em periódico	Cathepsin B inhibition attenuates cardiovascular pathology in mucopolysaccharidosis I mice Gonzalez Esteban ALBERTO; Martins Giselle RENATA; Angela Maria Vicente TAVARES; Viegas MICHELLE; Poletto EDINA et al LIFE SCIENCES DOI 10.1016/j.lfs.2018.01.020 ISSN 0024-3205	LS Immunology and Microbiology (miscellaneous)
2018	Artigo em periódico	Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS Roberto GIUGLIANI; Vairo FILIPPO; Kubaski FRANCYNE; Poswar FABIANO; Riegel MARILUCE et al The Lancet Child & Adolescent Health DOI 10.1016/s2352-4642(17)30087-1 ISSN 2352-4642	LS Neurology
2018	Artigo em periódico	Plasma Pharmacokinetics of Valanafusp Alpha; a Human Insulin Receptor Antibody-Iduronidase Fusion Protein; in Patients with Mucopolysaccharidosis Type I Pardridge William M; Boado Ruben J; Roberto GIUGLIANI; Schmidt MATHIAS BIODRUGS DOI 10.1007/s40259-018-0264-7 ISSN 1173-8804	HS Pharmacology (medical)
2018	Artigo em periódico	Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome) Quartel ADRIAN; Harmatz Paul R; Lampe CHRISTINA; Guffon NATHALIE; Ketteridge DAVID et al JOURNAL OF INBORN ERRORS OF METABOLISM & SCREENING DOI 10.1177/2326409818755800 ISSN 2326-4098	HS Medicine (miscellaneous)
2018	Artigo em periódico	Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA Bochernitsan Aline NEMETZ; Brusius Facchin Ana CAROLINA; Couto Rowena RUBIM; Kubaski FRANCYNE; Dos Santos Lopes Simone SILVA et al META GENE DOI 10.1016/j.mgene.2018.01.008 ISSN 2214-5400	LS Genetics
2018	Artigo em periódico	Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders Hendriksz Christian J; Harmatz PAUL; Roberto GIUGLIANI; Roberts JANE; Arul G SUREN MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2018.02.007 ISSN 2214-4269	LS Genetics
2018	Artigo em periódico	Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison Eisengart Julie B; Rudser Kyle D; Xue YONG; Orchard PAUL; Miller WESTON et al GENETICS IN MEDICINE DOI 10.1038/gim.2018.29 ISSN 1098-3600	LS Genetics
2018	Artigo em periódico	Worldwide distribution of common IDUA</i> pathogenic variants Poletto E; Pasqualim G; Roberto GIUGLIANI; Ursula Da Silveira MATTE; Baldo G CLINICAL GENETICS DOI 10.1111/cge.13224 ISSN 0009-9163	LS Genetics

2019 Artigo em periódico

HS Genetics (clinical)

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

GENETICS AND MOLECULAR BIOLOGY

Brusius Facchin Ana CAROLINA; Marina SIEBERT; Leão DELVA; Malaga Diana ROJAS; Pasqualim GABRIELA et al

DOI ISSN 1415-4757

2019 Artigo em periódico

HS Genetics (clinical)

Medical Genetics - Special issue dedicated to the 35th anniversary of the Medical Genetics Service; Hospital de Clínicas de Porto Alegre; Brazil

GENETICS AND MOLECULAR BIOLOGY

Roberto GIUGLIANI

DOI ISSN 1415-4757

2019 Artigo em periódico

HS Medicine (miscellaneous)

Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases

GENETICS AND MOLECULAR BIOLOGY

Poletto EDINA; Pasqualim GABRIELA; Roberto GIUGLIANI; Ursula Da Silveira MATTE; Guilherme BALDO

DOI ISSN 1415-4757

2019 Artigo em periódico

LS Genetics

Clinical research challenges in rare genetic diseases in Brazil

GENETICS AND MOLECULAR BIOLOGY

Giugliani LUCIANA; Vanzella CLAUDIA; Zambrano Marina BAUER; Donis Karina CARVALHO; Wallau Thaís Klassmann WENDLAND et al

DOI ISSN 1415-4757

2019 Artigo em periódico

LS Biotechnology

Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular; respiratory; and bone disease features of the mucopolysaccharidosis I phenotype in mice

GENE THERAPY

Schuh Roselena SILVESTRI; Gonzalez Esteban ALBERTO; Tavares Angela Maria VICENTE; Seolin Bruna GAZZI; Elias Lais De SOUZA et al

DOI ISSN 0969-7128

2019 Artigo em periódico

LS Genetics

Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria

MOLECULAR GENETICS AND METABOLISM

Pino GISELE; Conboy ERIN; Tortorelli SILVIA; Minnich SARA; Nickander KIM et al

DOI ISSN 1096-7192

2019 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

<p>Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis</p>

Drug Design Development and Therapy

Ramaswami UMA; Beck MICHAEL; Hughes DERRALYNN; Kampmann CHRISTOPH; Botha JACO et al

DOI ISSN 1177-8881

2019 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Characterization of glycan substrates accumulating in GM1 Gangliosidosis

MOLECULAR GENETICS AND METABOLISM REPORTS

Lawrence ROGER; Van Vleet Jeremy L; Mangini LINLEY; Harris ADAM; Martin NATHAN et al

DOI ISSN 2214-4269

2019 Artigo em periódico

LS Genetics

The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease

MOLECULAR GENETICS AND METABOLISM REPORTS

Schiffmann RAPHAEL; Bichet Daniel G; Benjamin ELFRIDA; Wu XIAOYANG; Roberto GIUGLIANI

DOI ISSN 2214-4269

2019 Artigo em periódico

HS Internal Medicine

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

Orphanet Journal of Rare Diseases

Akyol Mehmet UMUT; Alden Tord D; Amartino HERNAN; Ashworth JANE; Belani KUMAR et al

DOI ISSN 1750-1172

2019 Artigo em periódico

LS Genetics

Lysosomal diseases: Overview on current diagnosis and treatment

GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION)

Poswar Fabiano De OLIVEIRA; Vairo FILIPPO; Maira BURIN; Kristiane Michelin TIRELLI; Brusius Facchin Ana CAROLINA et al

DOI ISSN 1678-4685

2019 Artigo em periódico

HS Genetics (clinical)

Clinical findings in Brazilian patients with adult GM1 gangliosidosis

JIMD REPORTS

Giugliani LUCIANA; Steiner Carlos EDUARDO; Kim Chong AE; Lourenço Charles MARQUES; Santos Mara Lucia Schmitz FERREIRA et al

DOI ISSN 2192-8312

2018 Capítulo de livro

HS Medicine (miscellaneous)

Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients

JIMD Reports

Cox Gerald F; Clarke Lorne A; Roberto GIUGLIANI; Mcgovern Margaret M

DOI ISBN 9783662580806

2018 Artigo em periódico

LS Molecular Biology

Gene editing of MPS I human fibroblasts by co-delivery of a CRISPR/Cas9 plasmid and a donor oligonucleotide using nanoemulsions as nonviral carriers

EUROPEAN JOURNAL OF PHARMACEUTICS AND BIOPHARMACEUTICS

Schuh Roselena SILVESTRI; Talita Giacomet De CARVALHO; Roberto GIUGLIANI; Matte URSULA; Baldo GUILHERME et al

DOI ISSN 0939-6411

2018 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

MOLECULAR GENETICS AND METABOLISM REPORTS

Beck MICHAEL; Hughes DERRALYNN; Kampmann CHRISTOPH; Pintos Morell GUILLEM; Ramaswami UMA et al

DOI ISSN 2214-4269

2018 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Simple and efficient screening of patients with Fabry disease with high resolution melting

CLINICAL BIOCHEMISTRY

Pasqualim GABRIELA; Dos Santos Bruna ALMEIDA; Roberto GIUGLIANI; Ursula Da Silveira MATTE

DOI ISSN 0009-9120

2018 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

A simple protocol for transfecting human mesenchymal stem cells

BIOTECHNOLOGY LETTERS

De Carvalho Talita GIACOMET; Pellenz Felipe MATHEUS; Laureano ALVARO; Da Rocha Silla Lucia MARIANO; Roberto GIUGLIANI et al

DOI ISSN 0141-5492

2018 Artigo em periódico

LS Immunology and Microbiology (miscellaneous)

Cathepsin B inhibition attenuates cardiovascular pathology in mucopolysaccharidosis I mice

LIFE SCIENCES

Gonzalez Esteban ALBERTO; Martins Giselle RENATA; Angela Maria Vicente TAVARES; Viegas MICHELLE; Poletto EDINA et al

DOI ISSN 0024-3205

2018 Artigo em periódico

LS Neurology

Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS

The Lancet Child & Adolescent Health

Roberto GIUGLIANI; Vairo FILIPPO; Kubaski FRANCYNE; Poswar FABIANO; Riegel MARILUCE et al

DOI ISSN 2352-4642

2018 Artigo em periódico

HS Pharmacology (medical)

Plasma Pharmacokinetics of Valanafusp Alpha; a Human Insulin Receptor Antibody-Iduronidase Fusion Protein; in Patients with Mucopolysaccharidosis Type I

BIODRUGS

Pardridge William M; Boado Ruben J; Roberto GIUGLIANI; Schmidt MATHIAS

DOI ISSN 1173-8804

2018 Artigo em periódico

HS Medicine (miscellaneous)

Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

JOURNAL OF INBORN ERRORS OF METABOLISM & SCREENING

Quartel ADRIAN; Harmatz Paul R; Lampe CHRISTINA; Guffon NATHALIE; Ketteridge DAVID et al

DOI ISSN 2326-4098

2018 Artigo em periódico

LS Genetics

Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA

META GENE

Bochernitsan Aline NEMETZ; Brusius Facchin Ana CAROLINA; Couto Rowena RUBIM; Kubaski FRANCYNE; Dos Santos Lopes Simone SILVA et al

DOI ISSN 2214-5400

2018 Artigo em periódico

LS Genetics

Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders

MOLECULAR GENETICS AND METABOLISM REPORTS

Hendriksz Christian J; Harmatz PAUL; Roberto GIUGLIANI; Roberts JANE; Arul G SUREN

DOI ISSN 2214-4269

2018 Artigo em periódico

LS Genetics

Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison

GENETICS IN MEDICINE

Eisengart Julie B; Rudser Kyle D; Xue YONG; Orchard PAUL; Miller WESTON et al

DOI ISSN 1098-3600

2018 Artigo em periódico

LS Genetics

Worldwide distribution of common IDUA</i> pathogenic variants

CLINICAL GENETICS

Poletto E; Pasqualim G; Roberto GIUGLIANI; Ursula Da Silveira MATTE; Baldo G

DOI ISSN 0009-9163