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
2020	Artigo em periódico	Mucopolysaccharidosis Type I Kubaski FRANCYNE; De Oliveira Poswar FABIANO; Kristiane Michelin TIRELLI; Matte Ursula Da SILVEIRA; Horovitz Dafne D et al Diagnostics DOI 10.3390/diagnostics10030161 ISSN 2075-4418	HS Medicine (miscellaneous)
2020	Artigo em periódico	Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays Bender FERNANDA; Burin Maira G; Tirelli Kristiane M; Medeiros FERNANDA; Bitencourt Fernanda Hendges DE et al GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION) DOI 10.1590/1678-4685-gmb-2018-0334 ISSN 1678-4685	LS Genetics
2020	Artigo em periódico	Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III Escolar MARIA; Bradshaw JESSICA; Byers Valerie THARP; Roberto GIUGLIANI; Golightly LYNN et al Journal of Inborn Errors of Metabolism and Screening DOI 10.1590/2326-4594-jiems-2020-0002 ISSN 2326-4594	HS Genetics (clinical)
2020	Artigo em periódico	Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy Jones Simon A; Mcgovern MARGARET; Lidove OLIVIER; Roberto GIUGLIANI; Mistry Pramod K et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2020.06.008 ISSN 1096-7192	HS Genetics (clinical)
2020	Artigo em periódico	Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice Azambuja A S; Pimentel Vera L N; Gonzalez E A; Poletto E; Pinheiro C V et al METABOLIC BRAIN DISEASE DOI 10.1007/s11011-020-00592-5 ISSN 0885-7490	LS Neurology
2020	Artigo em periódico	Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease) Kubaski FRANCYNE; Vairo FILIPPO; Guilherme BALDO; De Oliveira Poswar FABIANO; Corte Amauri DALLA et al CURRENT PHARMACEUTICAL DESIGN DOI 10.2174/1381612826666200724161504 ISSN 1381-6128	LS Molecular Biology
2020	Artigo em periódico	Oral; dental; and craniofacial features in chronic acid sphingomyelinase deficiency Bender Cláubia V; Silveira Heraldo L D; Santos Natália S; Cavagni JULIANO; Rados Pantelis V et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.61871 ISSN 1552-4825	HS Genetics (clinical)
2020	Artigo em periódico	Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints Van Der Lee Johanna H; Morton JONATHAN; Adams Heather R; Clarke LORNE; Eisengart Julie B et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2020.08.007 ISSN 1096-7192	HS Genetics (clinical)
2020	Artigo em periódico	Improvement in time to treatment; but not time to diagnosis; in patients with mucopolysaccharidosis type I Roberto GIUGLIANI; Muschol NICOLE; Keenan Hillary A; Dant MARK; Muenzer JOSEPH ARCHIVES OF DISEASE IN CHILDHOOD DOI 10.1136/archdischild-2020-319040 ISSN 0003-9888	HS Pediatrics; Perinatology and Child Health
2020	Artigo em periódico	Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives Kubaski FRANCYNE; Sousa INÊS; Amorim TATIANA; Pereira DANILO; Trometer JOE et al International Journal of Neonatal Screening DOI 10.3390/ijns6040090 ISSN 2409-515X	LS Genetics
2020	Artigo em periódico	A Case Report on the Challenging Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Nunes ANDREA; Meira JOANNA; Cunha CAIO; Veiga MARIELZA; Magalhães Ana Paula Scholz DE et al Journal of Inborn Errors of Metabolism and Screening DOI 10.1590/2326-4594-jiems-2020-0010 ISSN 2326-4594	LS Genetics
2020	Artigo em periódico	Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes Borges PÂMELLA; Pasqualim GABRIELA; Roberto GIUGLIANI; Vairo FILIPPO; Ursula Da Silveira MATTE Orphanet Journal of Rare Diseases DOI 10.1186/s13023-020-01608-0 ISSN 1750-1172	HS Genetics (clinical)
2020	Artigo em periódico	Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1 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.2020.11.005 ISSN 1096-7192	HS Medicine (miscellaneous)
2019	Artigo em periódico	Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized; multicenter; double-blind clinical trial and extension study Germain Dominique P; Nicholls KATHY; Roberto GIUGLIANI; Bichet Daniel G; Hughes Derralynn A et al GENETICS IN MEDICINE DOI 10.1038/s41436-019-0451-z ISSN 1098-3600	HS Genetics (clinical)
2019	Artigo em periódico	Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study Hughes Derralynn A; Nicholls KATHLEEN; Sunder Plassmann GERE; Jovanovic ANA; Feldt Rasmussen ULLA et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.61105 ISSN 1552-4825	LS Genetics
2019	Artigo em periódico	Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene Polese Bonatto MÁRCIA; Hugo BOCK; Farias Ana Carolina S; Mergener RAFAELLA; Matte Maria CRISTINA et al MOLECULAR NEUROBIOLOGY DOI 10.1007/s12035-019-1528-z ISSN 0893-7648	LS Genetics
2019	Artigo em periódico	Population medical genetics: translating science to the community Roberto GIUGLIANI; Fernanda BENDER; Couto ROWENA; Bochernitsan ALINE; Brusius Facchin Ana CAROLINA et al GENETICS AND MOLECULAR BIOLOGY DOI 10.1590/1678-4685-gmb-2018-0096 ISSN 1415-4757	LS General Biochemistry; Genetics and Molecular Biology
2019	Artigo em periódico	Corrigendum to Universal newborn screening: A roadmap for action molecular genetics and metabolism 124 (2018) 177-183 Howson C P; Cedergren B; Roberto GIUGLIANI; Huhtinen P; Padilla C D et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2019.04.009 ISSN 1096-7192	HS Genetics (clinical)
2019	Artigo em periódico	Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases Vieira Taiane ALVES; Trapp Franciele BARBOSA; Souza Carolina Fischinger Moura DE; Faccini Lavínia SCHULER; Laura Bannach JARDIM et al GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION) DOI 10.1590/1678-4685-gmb-2018-0214 ISSN 1678-4685	HS Genetics (clinical)
2019	Artigo em periódico	Recommendations for the management of MPS IVA: 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/s13023-019-1074-9 ISSN 1750-1172	HS General Medicine
2019	Artigo em periódico	Sensitivity; advantages; limitations; and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders Málaga Diana ROJAS; Brusius Facchin Ana CAROLINA; Marina SIEBERT; Pasqualim GABRIELA; Saraiva Pereira Maria LUIZA et al GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION) DOI 10.1590/1678-4685-gmb-2018-0092 ISSN 1678-4685	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2019	Artigo em periódico	A consensus statement on birth defects surveillance; prevention; and care in Latin America and the Caribbean Zarante IGNACIO; Hurtado Villa PAULA; Walani Salimah R; Kancherla VIJAYA; López Camelo JORGE et al REVISTA PANAMERICANA DE SALUD PUBLICA-PAN AMERICAN JOURNAL OF PUBLIC HEALTH DOI 10.26633/RPSP.2019.2 ISSN 1020-4989	HS Public Health; Environmental and Occupational Health
2019	Artigo em periódico	Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease Martins CARLA; De Medeiros Paula Frassinetti V; Sandra Leistner SEGAL; Dridi LARBI; Elcioglu NURSEL et al HUMAN MUTATION DOI 10.1002/humu.23752 ISSN 1059-7794	LS Genetics
2019	Artigo em periódico	Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry Clarke Lorne A; Roberto GIUGLIANI; Guffon NATHALIE; Jones Simon A; Keenan Hillary A et al CLINICAL GENETICS DOI 10.1111/cge.13583 ISSN 0009-9163	HS Genetics (clinical)
2019	Artigo em periódico	Recommendations for Assessment and Management of Health-Related Quality of Life in Patients with Mucopolysaccharidoses in Latin America Roberto GIUGLIANI; Fainboim ALEJANDRO; Kim Chong AE; Dafne Dain Gandelman HOROVITZ; Sakata Edna TIEMI et al Journal of Inborn Errors of Metabolism and Screening DOI 10.1590/2326-4594-jiems-2019-0004 ISSN 2326-4594	HS Medicine (miscellaneous)

2020 Artigo em periódico

HS Medicine (miscellaneous)

Mucopolysaccharidosis Type I

Diagnostics

Kubaski FRANCYNE; De Oliveira Poswar FABIANO; Kristiane Michelin TIRELLI; Matte Ursula Da SILVEIRA; Horovitz Dafne D et al

DOI ISSN 2075-4418

2020 Artigo em periódico

LS Genetics

Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays

GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION)

Bender FERNANDA; Burin Maira G; Tirelli Kristiane M; Medeiros FERNANDA; Bitencourt Fernanda Hendges DE et al

DOI ISSN 1678-4685

2020 Artigo em periódico

HS Genetics (clinical)

Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III

Journal of Inborn Errors of Metabolism and Screening

Escolar MARIA; Bradshaw JESSICA; Byers Valerie THARP; Roberto GIUGLIANI; Golightly LYNN et al

DOI ISSN 2326-4594

2020 Artigo em periódico

HS Genetics (clinical)

Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy

MOLECULAR GENETICS AND METABOLISM

Jones Simon A; Mcgovern MARGARET; Lidove OLIVIER; Roberto GIUGLIANI; Mistry Pramod K et al

DOI ISSN 1096-7192

2020 Artigo em periódico

LS Neurology

Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice

METABOLIC BRAIN DISEASE

Azambuja A S; Pimentel Vera L N; Gonzalez E A; Poletto E; Pinheiro C V et al

DOI ISSN 0885-7490

2020 Artigo em periódico

LS Molecular Biology

Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease)

CURRENT PHARMACEUTICAL DESIGN

Kubaski FRANCYNE; Vairo FILIPPO; Guilherme BALDO; De Oliveira Poswar FABIANO; Corte Amauri DALLA et al

DOI ISSN 1381-6128

2020 Artigo em periódico

HS Genetics (clinical)

Oral; dental; and craniofacial features in chronic acid sphingomyelinase deficiency

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Bender Cláubia V; Silveira Heraldo L D; Santos Natália S; Cavagni JULIANO; Rados Pantelis V et al

DOI ISSN 1552-4825

2020 Artigo em periódico

HS Genetics (clinical)

Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints

MOLECULAR GENETICS AND METABOLISM

Van Der Lee Johanna H; Morton JONATHAN; Adams Heather R; Clarke LORNE; Eisengart Julie B et al

DOI ISSN 1096-7192

2020 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Improvement in time to treatment; but not time to diagnosis; in patients with mucopolysaccharidosis type I

ARCHIVES OF DISEASE IN CHILDHOOD

Roberto GIUGLIANI; Muschol NICOLE; Keenan Hillary A; Dant MARK; Muenzer JOSEPH

DOI ISSN 0003-9888

2020 Artigo em periódico

LS Genetics

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

International Journal of Neonatal Screening

Kubaski FRANCYNE; Sousa INÊS; Amorim TATIANA; Pereira DANILO; Trometer JOE et al

DOI ISSN 2409-515X

2020 Artigo em periódico

LS Genetics

A Case Report on the Challenging Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)

Journal of Inborn Errors of Metabolism and Screening

Nunes ANDREA; Meira JOANNA; Cunha CAIO; Veiga MARIELZA; Magalhães Ana Paula Scholz DE et al

DOI ISSN 2326-4594

2020 Artigo em periódico

HS Genetics (clinical)

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

Orphanet Journal of Rare Diseases

Borges PÂMELLA; Pasqualim GABRIELA; Roberto GIUGLIANI; Vairo FILIPPO; Ursula Da Silveira MATTE

DOI ISSN 1750-1172

2020 Artigo em periódico

HS Medicine (miscellaneous)

Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1

MOLECULAR GENETICS AND METABOLISM

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

DOI ISSN 1096-7192

2019 Artigo em periódico

HS Genetics (clinical)

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized; multicenter; double-blind clinical trial and extension study

GENETICS IN MEDICINE

Germain Dominique P; Nicholls KATHY; Roberto GIUGLIANI; Bichet Daniel G; Hughes Derralynn A et al

DOI ISSN 1098-3600

2019 Artigo em periódico

LS Genetics

Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hughes Derralynn A; Nicholls KATHLEEN; Sunder Plassmann GERE; Jovanovic ANA; Feldt Rasmussen ULLA et al

DOI ISSN 1552-4825

2019 Artigo em periódico

LS Genetics

Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene

MOLECULAR NEUROBIOLOGY

Polese Bonatto MÁRCIA; Hugo BOCK; Farias Ana Carolina S; Mergener RAFAELLA; Matte Maria CRISTINA et al

DOI ISSN 0893-7648

2019 Artigo em periódico

LS General Biochemistry; Genetics and Molecular Biology

Population medical genetics: translating science to the community

GENETICS AND MOLECULAR BIOLOGY

Roberto GIUGLIANI; Fernanda BENDER; Couto ROWENA; Bochernitsan ALINE; Brusius Facchin Ana CAROLINA et al

DOI ISSN 1415-4757

2019 Artigo em periódico

HS Genetics (clinical)

Corrigendum to Universal newborn screening: A roadmap for action molecular genetics and metabolism 124 (2018) 177-183

MOLECULAR GENETICS AND METABOLISM

Howson C P; Cedergren B; Roberto GIUGLIANI; Huhtinen P; Padilla C D et al

DOI ISSN 1096-7192

2019 Artigo em periódico

HS Genetics (clinical)

Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases

GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION)

Vieira Taiane ALVES; Trapp Franciele BARBOSA; Souza Carolina Fischinger Moura DE; Faccini Lavínia SCHULER; Laura Bannach JARDIM et al

DOI ISSN 1678-4685

2019 Artigo em periódico

HS General Medicine

Recommendations for the management of MPS IVA: 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 Biochemistry; Genetics and Molecular Biology (miscellaneous)

Sensitivity; advantages; limitations; and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION)

Málaga Diana ROJAS; Brusius Facchin Ana CAROLINA; Marina SIEBERT; Pasqualim GABRIELA; Saraiva Pereira Maria LUIZA et al

DOI ISSN 1678-4685

2019 Artigo em periódico

HS Public Health; Environmental and Occupational Health

A consensus statement on birth defects surveillance; prevention; and care in Latin America and the Caribbean

REVISTA PANAMERICANA DE SALUD PUBLICA-PAN AMERICAN JOURNAL OF PUBLIC HEALTH

Zarante IGNACIO; Hurtado Villa PAULA; Walani Salimah R; Kancherla VIJAYA; López Camelo JORGE et al

DOI ISSN 1020-4989

2019 Artigo em periódico

LS Genetics

Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease

HUMAN MUTATION

Martins CARLA; De Medeiros Paula Frassinetti V; Sandra Leistner SEGAL; Dridi LARBI; Elcioglu NURSEL et al

DOI ISSN 1059-7794

2019 Artigo em periódico

HS Genetics (clinical)

Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

CLINICAL GENETICS

Clarke Lorne A; Roberto GIUGLIANI; Guffon NATHALIE; Jones Simon A; Keenan Hillary A et al

DOI ISSN 0009-9163

2019 Artigo em periódico

HS Medicine (miscellaneous)

Recommendations for Assessment and Management of Health-Related Quality of Life in Patients with Mucopolysaccharidoses in Latin America

Journal of Inborn Errors of Metabolism and Screening

Roberto GIUGLIANI; Fainboim ALEJANDRO; Kim Chong AE; Dafne Dain Gandelman HOROVITZ; Sakata Edna TIEMI et al

DOI ISSN 2326-4594