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
2014	Artigo em periódico	Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report Alegra TACIANE; Koppe TIAGO; Angelina ACOSTA; Sarno MANOEL; Maira BURIN et al Meta Gene DOI 10.1016/j.mgene.2014.03.003 ISSN 2214-5400	HS Genetics (clinical)
2014	Artigo em periódico	Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease Marli Viapiana CAMELIER; Civallero G; De Mari J; M BURIN; Roberto GIUGLIANI Clinica Chimica Acta (Print) DOI 10.1016/j.cca.2014.08.029 ISSN 0009-8981	LS Clinical Biochemistry
2014	Artigo em periódico	Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America Roberto GIUGLIANI; Villarreal Martha Luz SOLANO; Valdez C Araceli ARELLANO; Hawilou Antonieta MAHFOUD; Guelbert NORBERTO et al Genetics and Molecular Biology (Impresso) DOI 10.1590/s1415-47572014000300003 ISSN 1415-4757	LS Genetics
2014	Artigo em periódico	Fabry disease: A new approach for the screening of females in high-risk groups Pasqualim GABRIELA; Simon LAURA; Ludwig Fernanda SPERB; Burin Maira GRAEF; Kristiane Michelin TIRELLI et al CLINICAL BIOCHEMISTRY DOI 10.1016/j.clinbiochem.2014.02.014 ISSN 0009-9120	LS Clinical Biochemistry
2013	Capítulo de livro	Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4;700 High-Risk Colombian Subjects Uribe ALFREDO; Roberto GIUGLIANI JIMD Reports DOI 10.1007/8904_2013_229 ISBN 9783642373275	HS Genetics (clinical)
2013	Livro	Atenção Primária à Saúde Taiane VIEIRA; Roberto GIUGLIANI — ISBN 9788565852883	HS Public Health; Environmental and Occupational Health
2013	Artigo em periódico	Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis Sperb FERNANDA; Vairo FILIPPO; Maira BURIN; Mayer Fabiana QUOOS; Ursula Da Silveira MATTE et al Gene (Amsterdam) DOI 10.1016/j.gene.2012.09.106 ISSN 0378-1119	LS Genetics
2013	Artigo em periódico	Reliable detection of mucopolysacchariduria in dried-urine filter paper samples Civallero G; Bender F; Gomes A; Marasca G; R GUIDOBONO et al Clinica Chimica Acta (Print) DOI 10.1016/j.cca.2012.11.009 ISSN 0009-8981	LS Clinical Biochemistry
2013	Artigo em periódico	Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA Kubaski FRANCYNE; Brusius Facchin Ana CAROLINA; Palhares Heloísa M C; Balarin Marly Aparecida SPADOTTO; Marli Viapiana CAMELIER et al Gene (Amsterdam) DOI 10.1016/j.gene.2012.12.100 ISSN 0378-1119	LS Genetics
2013	Artigo em periódico	The Morquio Clinical Assessment Program: Baseline results illustrating progressive; multisystemic clinical impairments in Morquio A subjects Harmatz PAUL; Mengel Karl EUGEN; Roberto GIUGLIANI; Valayannopoulos VASSILI; Lin Shuan PEI et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2013.01.021 ISSN 1096-7192	HS Genetics (clinical)
2013	Artigo em periódico	Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease Marina SIEBERT; Hugo BOCK; Michelin Tirelli K; Janice Carneiro COELHO; Roberto GIUGLIANI et al JIMD REPORTS ISSN 2192-8303	HS Genetics (clinical)
2013	Artigo em periódico	Assay of heparan-N-sulfamidase in dried leukocytes impregnated in filter paper: A new tool for the identification of Mucopolisaccharidosis IIIA and potentially other lysosomal disorders Civallero G; De Mari J; Viapiana Camelier M; M BURIN; Roberto GIUGLIANI Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2013.02.001 ISSN 1096-7192	HS Genetics (clinical)
2013	Artigo em periódico	A Phase 2 study of migalastat hydrochloride in females with Fabry disease: Selection of population; safety and pharmacodynamic effects Roberto GIUGLIANI; S WALDEK; Germain D P; K NICHOLLS; Bichet D G et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2013.01.009 ISSN 1096-7192	LS Pharmacology; Toxicology and Pharmaceutics (miscellaneous)
2013	Artigo em periódico	Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb3) in Fabry Transgenic Mice and in the Plasma of Fabry Patients Young Gqamana BRANDY; Brignol NASTRY; Chang Hui HWA; Khanna RICHIE; Soska REBECCA et al Plos One DOI 10.1371/journal.pone.0057631 ISSN 1932-6203	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2013	Artigo em periódico	Respiratory and sleep disorders in mucopolysaccharidosis Berger Kenneth I; Fagondes Simone C; Roberto GIUGLIANI; Hardy Karen A; Lee Kuo SHENG et al Journal of Inherited Metabolic Disease (Dordrecht Online) DOI 10.1007/s10545-012-9555-1 ISSN 1573-2665	HS Medicine (miscellaneous)
2013	Artigo em periódico	Diagnosing mucopolysaccharidosis IVA Wood Timothy C; Harvey KATIE; Beck MICHAEL; Maira Graeff BURIN; Chien Yin HSIU et al Journal of Inherited Metabolic Disease (Dordrecht Online) DOI 10.1007/s10545-013-9587-1 ISSN 1573-2665	SH Accounting
2013	Artigo em periódico	The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS) Jones Simon A; Parini ROSSELLA; Harmatz PAUL; Roberto GIUGLIANI; Fang JUANZHI et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2013.03.001 ISSN 1096-7192	HS Genetics (clinical)
2013	Artigo em periódico	Rapidly advancing phenotype consistently identified in five Brazilian MPS VI patients homozygous for the R315Q mutation Roberto GIUGLIANI; Ribeiro MÁRCIA; Paula Ana CAROLINA; Furquim ISABEL; Valadares EUGENIA et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2012.11.098 ISSN 1096-7192	HS Genetics (clinical)
2013	Artigo em periódico	Screening for MPS VI in a high-incidence area of Northeast Brazil: Report of the first 1;000 newborns tested Sandra Leistner SEGAL; Sandra Leistner SEGAL; Bender FERNANDA; Bochernitsan ALINE; Amorim TATIANA et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2012.11.149 ISSN 1096-7192	HS Genetics (clinical)
2013	Artigo em periódico	The incidence of p.R506Q and c.G20210A mutations in South Brazilian patients with Fabry disease and with Gaucher disease Sandra Leistner SEGAL; Sandra Leistner SEGAL; Kubaski FRANCYNE; Vairo FILIPPO; Brusius Facchin Ana CAROLINA et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2012.11.150 ISSN 1096-7192	HS Genetics (clinical)
2013	Artigo em periódico	Characterization of joint disease in mucopolysaccharidosis type I mice Barbara Zambiasi MARTINELLI; De Oliveira Patricia G; Baldo GUILHERME; Quoos Mayer FABIANA; Barbara Zambiasi MARTINELLI et al International Journal of Experimental Pathology (Print) DOI 10.1111/iep.12033 ISSN 0959-9673	LS Genetics
2013	Artigo em periódico	Pathogenesis of mitral valve disease in mucopolysaccharidosis VII dogs Bigg Paul W; Baldo GUILHERME; Sleeper Meg M; O Donnell Patricia A; Bai HANQING et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2013.06.013 ISSN 1096-7192	HS Genetics (clinical)
2013	Artigo em periódico	Dentomaxillofacial manifestations of mucopolysaccharidosis VI: clinical and imaging findings from two cases; with an emphasis on the temporomandibular joint Cavaleiro Rosely Maria Dos SANTOS; Pinheiro Maria Das G RODRIGUES; Pinheiro Lucas R; Tuji Fabrício MESQUITA; Feio Patrícia Do Socorro QUEIRÓZ et al Oral Surgery; Oral Medicine; Oral Pathology and Oral Radiology DOI 10.1016/j.oooo.2013.04.021 ISSN 2212-4403	HS Dentistry (miscellaneous)
2013	Artigo em periódico	Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence Brusius Facchin Ana CAROLINA; Abrahão LUIZA; Schwartz Ida Vanessa DOEDERLEIN; Lourenço Charles MARQUES; Santos Emerson SANTANA et al Gene (Amsterdam) DOI 10.1016/j.gene.2013.05.007 ISSN 0378-1119	LS Genetics
2013	Artigo em periódico	Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits Baldo GUILHERME; Wozniak David F; Ohlemiller Kevin K; Zhang YANMING; Roberto GIUGLIANI et al Journal of Inherited Metabolic Disease DOI 10.1007/s10545-012-9530-x ISSN 0141-8955	HS Genetics (clinical)

2014 Artigo em periódico

HS Genetics (clinical)

Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report

Meta Gene

Alegra TACIANE; Koppe TIAGO; Angelina ACOSTA; Sarno MANOEL; Maira BURIN et al

DOI ISSN 2214-5400

2014 Artigo em periódico

LS Clinical Biochemistry

Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease

Clinica Chimica Acta (Print)

Marli Viapiana CAMELIER; Civallero G; De Mari J; M BURIN; Roberto GIUGLIANI

DOI ISSN 0009-8981

2014 Artigo em periódico

LS Genetics

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

Genetics and Molecular Biology (Impresso)

Roberto GIUGLIANI; Villarreal Martha Luz SOLANO; Valdez C Araceli ARELLANO; Hawilou Antonieta MAHFOUD; Guelbert NORBERTO et al

DOI ISSN 1415-4757

2014 Artigo em periódico

LS Clinical Biochemistry

Fabry disease: A new approach for the screening of females in high-risk groups

CLINICAL BIOCHEMISTRY

Pasqualim GABRIELA; Simon LAURA; Ludwig Fernanda SPERB; Burin Maira GRAEF; Kristiane Michelin TIRELLI et al

DOI ISSN 0009-9120

2013 Capítulo de livro

HS Genetics (clinical)

Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4;700 High-Risk Colombian Subjects

JIMD Reports

Uribe ALFREDO; Roberto GIUGLIANI

DOI ISBN 9783642373275

2013 Livro

HS Public Health; Environmental and Occupational Health

Atenção Primária à Saúde

—

Taiane VIEIRA; Roberto GIUGLIANI

ISBN 9788565852883

2013 Artigo em periódico

LS Genetics

Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis

Gene (Amsterdam)

Sperb FERNANDA; Vairo FILIPPO; Maira BURIN; Mayer Fabiana QUOOS; Ursula Da Silveira MATTE et al

DOI ISSN 0378-1119

2013 Artigo em periódico

LS Clinical Biochemistry

Reliable detection of mucopolysacchariduria in dried-urine filter paper samples

Clinica Chimica Acta (Print)

Civallero G; Bender F; Gomes A; Marasca G; R GUIDOBONO et al

DOI ISSN 0009-8981

2013 Artigo em periódico

LS Genetics

Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA

Gene (Amsterdam)

Kubaski FRANCYNE; Brusius Facchin Ana CAROLINA; Palhares Heloísa M C; Balarin Marly Aparecida SPADOTTO; Marli Viapiana CAMELIER et al

DOI ISSN 0378-1119

2013 Artigo em periódico

HS Genetics (clinical)

The Morquio Clinical Assessment Program: Baseline results illustrating progressive; multisystemic clinical impairments in Morquio A subjects

Molecular Genetics and Metabolism (Print)

Harmatz PAUL; Mengel Karl EUGEN; Roberto GIUGLIANI; Valayannopoulos VASSILI; Lin Shuan PEI et al

DOI ISSN 1096-7192

2013 Artigo em periódico

HS Genetics (clinical)

Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease

JIMD REPORTS

Marina SIEBERT; Hugo BOCK; Michelin Tirelli K; Janice Carneiro COELHO; Roberto GIUGLIANI et al

ISSN 2192-8303

2013 Artigo em periódico

HS Genetics (clinical)

Assay of heparan-N-sulfamidase in dried leukocytes impregnated in filter paper: A new tool for the identification of Mucopolisaccharidosis IIIA and potentially other lysosomal disorders

Molecular Genetics and Metabolism (Print)

Civallero G; De Mari J; Viapiana Camelier M; M BURIN; Roberto GIUGLIANI

DOI ISSN 1096-7192

2013 Artigo em periódico

LS Pharmacology; Toxicology and Pharmaceutics (miscellaneous)

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: Selection of population; safety and pharmacodynamic effects

Molecular Genetics and Metabolism (Print)

Roberto GIUGLIANI; S WALDEK; Germain D P; K NICHOLLS; Bichet D G et al

DOI ISSN 1096-7192

2013 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb3) in Fabry Transgenic Mice and in the Plasma of Fabry Patients

Plos One

Young Gqamana BRANDY; Brignol NASTRY; Chang Hui HWA; Khanna RICHIE; Soska REBECCA et al

DOI ISSN 1932-6203

2013 Artigo em periódico

HS Medicine (miscellaneous)

Respiratory and sleep disorders in mucopolysaccharidosis

Journal of Inherited Metabolic Disease (Dordrecht Online)

Berger Kenneth I; Fagondes Simone C; Roberto GIUGLIANI; Hardy Karen A; Lee Kuo SHENG et al

DOI ISSN 1573-2665

2013 Artigo em periódico

SH Accounting

Diagnosing mucopolysaccharidosis IVA

Journal of Inherited Metabolic Disease (Dordrecht Online)

Wood Timothy C; Harvey KATIE; Beck MICHAEL; Maira Graeff BURIN; Chien Yin HSIU et al

DOI ISSN 1573-2665

2013 Artigo em periódico

HS Genetics (clinical)

The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Molecular Genetics and Metabolism (Print)

Jones Simon A; Parini ROSSELLA; Harmatz PAUL; Roberto GIUGLIANI; Fang JUANZHI et al

DOI ISSN 1096-7192

2013 Artigo em periódico

HS Genetics (clinical)

Rapidly advancing phenotype consistently identified in five Brazilian MPS VI patients homozygous for the R315Q mutation

Molecular Genetics and Metabolism (Print)

Roberto GIUGLIANI; Ribeiro MÁRCIA; Paula Ana CAROLINA; Furquim ISABEL; Valadares EUGENIA et al

DOI ISSN 1096-7192

2013 Artigo em periódico

HS Genetics (clinical)

Screening for MPS VI in a high-incidence area of Northeast Brazil: Report of the first 1;000 newborns tested

Molecular Genetics and Metabolism (Print)

Sandra Leistner SEGAL; Sandra Leistner SEGAL; Bender FERNANDA; Bochernitsan ALINE; Amorim TATIANA et al

DOI ISSN 1096-7192

2013 Artigo em periódico

HS Genetics (clinical)

The incidence of p.R506Q and c.G20210A mutations in South Brazilian patients with Fabry disease and with Gaucher disease

Molecular Genetics and Metabolism (Print)

Sandra Leistner SEGAL; Sandra Leistner SEGAL; Kubaski FRANCYNE; Vairo FILIPPO; Brusius Facchin Ana CAROLINA et al

DOI ISSN 1096-7192

2013 Artigo em periódico

LS Genetics

Characterization of joint disease in mucopolysaccharidosis type I mice

International Journal of Experimental Pathology (Print)

Barbara Zambiasi MARTINELLI; De Oliveira Patricia G; Baldo GUILHERME; Quoos Mayer FABIANA; Barbara Zambiasi MARTINELLI et al

DOI ISSN 0959-9673

2013 Artigo em periódico

HS Genetics (clinical)

Pathogenesis of mitral valve disease in mucopolysaccharidosis VII dogs

Molecular Genetics and Metabolism (Print)

Bigg Paul W; Baldo GUILHERME; Sleeper Meg M; O Donnell Patricia A; Bai HANQING et al

DOI ISSN 1096-7192

2013 Artigo em periódico

HS Dentistry (miscellaneous)

Dentomaxillofacial manifestations of mucopolysaccharidosis VI: clinical and imaging findings from two cases; with an emphasis on the temporomandibular joint

Oral Surgery; Oral Medicine; Oral Pathology and Oral Radiology

Cavaleiro Rosely Maria Dos SANTOS; Pinheiro Maria Das G RODRIGUES; Pinheiro Lucas R; Tuji Fabrício MESQUITA; Feio Patrícia Do Socorro QUEIRÓZ et al

DOI ISSN 2212-4403

2013 Artigo em periódico

LS Genetics

Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence

Gene (Amsterdam)

Brusius Facchin Ana CAROLINA; Abrahão LUIZA; Schwartz Ida Vanessa DOEDERLEIN; Lourenço Charles MARQUES; Santos Emerson SANTANA et al

DOI ISSN 0378-1119

2013 Artigo em periódico

HS Genetics (clinical)

Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits

Journal of Inherited Metabolic Disease

Baldo GUILHERME; Wozniak David F; Ohlemiller Kevin K; Zhang YANMING; Roberto GIUGLIANI et al

DOI ISSN 0141-8955