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
2015	Artigo em periódico	Impact of enzyme replacement therapy and&nbsp-hematopoietic stem cell transplantation in&nbsp-patients with Morquio A syndrome Tomatsu SHUNJI; Roberto GIUGLIANI; Kubaski FRANCYNE; Kazuki SAWAMOTO; Alméciga Díaz Carlos JAVIER et al Drug Design; Development and Therapy DOI 10.2147/dddt.s68562 ISSN 1177-8881	LS Genetics
2015	Artigo em periódico	Genetic causes of intellectual disability in a birth cohort: A population-based study Karam Simone M; Riegel MARILUCE; Sandra Leistner SEGAL; Félix Têmis M; Barros Aluísio J D et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.37011 ISSN 1552-4825	HS Genetics (clinical)
2015	Artigo em periódico	Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy Virgens M Y F; Siebert M; Bock H; Maira BURIN; Roberto GIUGLIANI et al Gene (Amsterdam) DOI 10.1016/j.gene.2015.05.016 ISSN 0378-1119	HS Genetics (clinical)
2015	Artigo em periódico	The Latin American School of Human and Medical Genetics: promoting education and collaboration in genetics and ethics applied to health sciences across the continent Roberto GIUGLIANI; Baldo GUILHERME; Filippo Pinto E VAIRO; Lujan Lopez MONICA; Matte URSULA Journal of Community Genetics DOI 10.1007/s12687-015-0230-8 ISSN 1868-310X	HS Genetics (clinical)
2015	Artigo em periódico	DNA damage in Fabry patients: An investigation of oxidative damage and repair Biancini Giovana BRONDANI; Moura Dinara JAQUELINE; Manini Paula REGINA; Faverzani Jéssica LAMBERTY; Netto Cristina Brinckmann OLIVEIRA et al Mutation Research. Genetic Toxicology and Environmental Mutagenesis DOI 10.1016/j.mrgentox.2015.04.012 ISSN 1383-5718	LS Genetics
2015	Artigo em periódico	Understanding the natural history of Gaucher disease Mistry Pramod K; Belmatoug NADIA; Vom Dahl STEPHAN; Roberto GIUGLIANI American Journal of Hematology (Print) DOI 10.1002/ajh.24055 ISSN 0361-8609	HS Immunology and Allergy
2015	Artigo em periódico	Extended use of dried-leukocytes impregnated in filter paper samples for detection of Pompe; Gaucher; and Morquio A diseases Marli Viapiana CAMELIER; De Mari J; M BURIN; Civallero G; Roberto GIUGLIANI Clinica Chimica Acta (Print) DOI 10.1016/j.cca.2015.04.034 ISSN 0009-8981	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2015	Artigo em periódico	Identification of mutations in Colombian patients affected with Fabry disease Uribe ALFREDO; Mateus Heidi ELIANA; Prieto Juan CARLOS; Palacios Maria FERNANDA; Ospina Sandra YANETH et al Gene (Amsterdam) DOI 10.1016/j.gene.2015.08.018 ISSN 0378-1119	LS Genetics
2015	Artigo em periódico	Prováveis causas da Deficiência Intelectual em estudo de Pelotas; RS Karam Simone M; Barros Aluísio J D; Iná S SANTOS; Matijasevich ALICIA; Mariluce RIEGEL et al REVISTA DI ISSN 2238-4618	SH Developmental and Educational Psychology
2015	Artigo em periódico	Current molecular genetics strategies for the diagnosis of lysosomal storage disorders Roberto GIUGLIANI; Brusius Facchin Ana CAROLINA; Pasqualim GABRIELA; Sandra Leistner SEGAL; Riegel MARILUCE et al Expert Review of Molecular Diagnostics DOI 10.1586/14737159.2016.1121101 ISSN 1473-7159	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2015	Artigo em periódico	Enzyme Replacement Therapy With Elosulfase Alfa Decreases Storage of Glycosaminoglycan in White Blood Cells of Patients With Morquio A Syndrome Guilherme BALDO; Poswar F; Andressa FEDERHEN; Bittar C; Gus R et al Journal of Inborn Errors of Metabolism & Screening DOI 10.1177/2326409814567741 ISSN 2326-4098	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2015	Artigo em periódico	Mucopolysaccharidosis: Caregiver Quality of Life Guarany N R; Vanz A P; Wilke M V M B; Bender D D; Borges M D et al Journal of Inborn Errors of Metabolism & Screening DOI 10.1177/2326409815613804 ISSN 2326-4098	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2015	Artigo em periódico	Diagnostic and treatment strategies in mucopolysaccharidosis VI Roberto GIUGLIANI; Andressa FEDERHEN; Vairo FILIPPO; Guilherme BALDO; Riegel MARILUCE et al The Application of Clinical Genetics DOI 10.2147/tacg.s68650 ISSN 1178-704X	HS Pediatrics; Perinatology and Child Health
2015	Artigo em periódico	Prováveis causas da Deficiência Intelectual em estudo de Pelotas; RS Simone KARAM; Aluísio BARROS; Iná S SANTOS; Alicia Matijasevich MANITTO; Félix Têmis M et al Revista Deficiência Intelectual ISSN 2338-4618	HS Medicine (miscellaneous)
2015	Artigo em periódico	Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma Puig SUSANA; Potrony MIRIAM; Cuellar FRANCISCO; Puig Butille Joan ANTON; Carrera CRISTINA et al Genetics in Medicine DOI 10.1038/gim.2015.160 ISSN 1098-3600	HS Genetics (clinical)
2015	Artigo em periódico	MPS I and MPS II: Minimal estimated incidence in Brazil and comparison to the rest of the world Federhen ANDRESSA; De Cássia Cascaes Batista CARLA; Burin MAIRA; Sandra Leistner SEGAL; Matte URSULA et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2014.12.082 ISSN 1096-7192	HS Genetics (clinical)
2015	Artigo em periódico	Laronidase-Functionalized Multiple-Wall Lipid-Core Nanocapsules: Promising Formulation for a More Effective Treatment of Mucopolysaccharidosis Type I Mayer Fabiana QUOOS; Adorne Márcia DUARTE; Bender Eduardo ANDRÉ; Talita Giacomet De CARVALHO; Dilda Anna CLÁUDIA et al PHARMACEUTICAL RESEARCH DOI 10.1007/s11095-014-1508-y ISSN 0724-8741	LS Pharmacology; Toxicology and Pharmaceutics (miscellaneous)
2014	Capítulo de livro	Mucopolisacaridosis tipo II (síndrome de Hunter) Roberto GIUGLIANI; Moura De Souza CF; Netto C B O; Burin M G; Leistner Segal S et al Diagnóstico y Tratamiento de las Enfermedades Metabólicas Hereditarias ISBN 9788415351	HS Medicine (miscellaneous)
2014	Capítulo de livro	Oligosacaridosis y mucolipidosis Moura De Souza CF; Taciane ALEGRA; Roberto GIUGLIANI; Ida Vanessa Doederlein SCHWARTZ Diagnóstico y Tratamiento de las Enfermedades Metabólicas Hereditarias ISBN 9788415351	HS Endocrinology; Diabetes and Metabolism
2014	Capítulo de livro	Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII Shimada TSUTOMU; Tomatsu SHUNJI; Yasuda ERIKO; Mason Robert W; Mackenzie William G et al JIMD Reports DOI 10.1007/8904_2014_311 ISBN 9783662445860	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2014	Capítulo de livro	Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age Lampe CHRISTINA; Atherton ANDREA; Burton Barbara K; Descartes MARIA; Roberto GIUGLIANI et al JIMD Reports DOI 10.1007/8904_2013_289 ISBN 9783662437476	HS Medicine (miscellaneous)
2014	Capítulo de livro	Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II; IVA; and IVB Shimada TSUTOMU; Tomatsu SHUNJI; Mason Robert W; Yasuda ERIKO; Mackenzie William G et al JIMD Reports DOI 10.1007/8904_2014_330 ISBN 9783662471715	HS Medicine (miscellaneous)
2014	Artigo em periódico	Enzyme replacement therapy with double-dose Iaronidase every other week is safe and effective: case reports and glycosaminoglycan excretion patterns in ten mucopolysaccharidosis type I patients Dafne Dain Gandelman HOROVITZ; Souza CAROLINA; Dafne Dain Gandelman HOROVITZ; Acosta ANGELINA; Esposito Ana CAROLINA et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2013.12.248 ISSN 1096-7192	HS Genetics (clinical)
2014	Artigo em periódico	Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients Brusius Facchin A C; Schwartz I V D; Zimmer C; Marcia Goncalves RIBEIRO; Marcia Goncalves RIBEIRO et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2013.08.011 ISSN 1096-7192	LS Genetics
2014	Artigo em periódico	Anthropometry; Nutritional Status; and Dietary Intake in Pediatric Patients with Osteogenesis Imperfecta Zambrano Marina B; Brizola Evelise S; Lilia REFOSCO; Roberto GIUGLIANI; Félix Têmis M Journal of the American College of Nutrition (Print) DOI 10.1080/07315724.2013.827065 ISSN 0731-5724	HS Pediatrics; Perinatology and Child Health

2015 Artigo em periódico

LS Genetics

Impact of enzyme replacement therapy and&nbsp-hematopoietic stem cell transplantation in&nbsp-patients with Morquio A syndrome

Drug Design; Development and Therapy

Tomatsu SHUNJI; Roberto GIUGLIANI; Kubaski FRANCYNE; Kazuki SAWAMOTO; Alméciga Díaz Carlos JAVIER et al

DOI ISSN 1177-8881

2015 Artigo em periódico

HS Genetics (clinical)

Genetic causes of intellectual disability in a birth cohort: A population-based study

American Journal of Medical Genetics. Part A

Karam Simone M; Riegel MARILUCE; Sandra Leistner SEGAL; Félix Têmis M; Barros Aluísio J D et al

DOI ISSN 1552-4825

2015 Artigo em periódico

HS Genetics (clinical)

Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy

Gene (Amsterdam)

Virgens M Y F; Siebert M; Bock H; Maira BURIN; Roberto GIUGLIANI et al

DOI ISSN 0378-1119

2015 Artigo em periódico

HS Genetics (clinical)

The Latin American School of Human and Medical Genetics: promoting education and collaboration in genetics and ethics applied to health sciences across the continent

Journal of Community Genetics

Roberto GIUGLIANI; Baldo GUILHERME; Filippo Pinto E VAIRO; Lujan Lopez MONICA; Matte URSULA

DOI ISSN 1868-310X

2015 Artigo em periódico

LS Genetics

DNA damage in Fabry patients: An investigation of oxidative damage and repair

Mutation Research. Genetic Toxicology and Environmental Mutagenesis

Biancini Giovana BRONDANI; Moura Dinara JAQUELINE; Manini Paula REGINA; Faverzani Jéssica LAMBERTY; Netto Cristina Brinckmann OLIVEIRA et al

DOI ISSN 1383-5718

2015 Artigo em periódico

HS Immunology and Allergy

Understanding the natural history of Gaucher disease

American Journal of Hematology (Print)

Mistry Pramod K; Belmatoug NADIA; Vom Dahl STEPHAN; Roberto GIUGLIANI

DOI ISSN 0361-8609

2015 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Extended use of dried-leukocytes impregnated in filter paper samples for detection of Pompe; Gaucher; and Morquio A diseases

Clinica Chimica Acta (Print)

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

DOI ISSN 0009-8981

2015 Artigo em periódico

LS Genetics

Identification of mutations in Colombian patients affected with Fabry disease

Gene (Amsterdam)

Uribe ALFREDO; Mateus Heidi ELIANA; Prieto Juan CARLOS; Palacios Maria FERNANDA; Ospina Sandra YANETH et al

DOI ISSN 0378-1119

2015 Artigo em periódico

SH Developmental and Educational Psychology

Prováveis causas da Deficiência Intelectual em estudo de Pelotas; RS

REVISTA DI

Karam Simone M; Barros Aluísio J D; Iná S SANTOS; Matijasevich ALICIA; Mariluce RIEGEL et al

ISSN 2238-4618

2015 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Current molecular genetics strategies for the diagnosis of lysosomal storage disorders

Expert Review of Molecular Diagnostics

Roberto GIUGLIANI; Brusius Facchin Ana CAROLINA; Pasqualim GABRIELA; Sandra Leistner SEGAL; Riegel MARILUCE et al

DOI ISSN 1473-7159

2015 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Enzyme Replacement Therapy With Elosulfase Alfa Decreases Storage of Glycosaminoglycan in White Blood Cells of Patients With Morquio A Syndrome

Journal of Inborn Errors of Metabolism & Screening

Guilherme BALDO; Poswar F; Andressa FEDERHEN; Bittar C; Gus R et al

DOI ISSN 2326-4098

2015 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Mucopolysaccharidosis: Caregiver Quality of Life

Journal of Inborn Errors of Metabolism & Screening

Guarany N R; Vanz A P; Wilke M V M B; Bender D D; Borges M D et al

DOI ISSN 2326-4098

2015 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Diagnostic and treatment strategies in mucopolysaccharidosis VI

The Application of Clinical Genetics

Roberto GIUGLIANI; Andressa FEDERHEN; Vairo FILIPPO; Guilherme BALDO; Riegel MARILUCE et al

DOI ISSN 1178-704X

2015 Artigo em periódico

HS Medicine (miscellaneous)

Prováveis causas da Deficiência Intelectual em estudo de Pelotas; RS

Revista Deficiência Intelectual

Simone KARAM; Aluísio BARROS; Iná S SANTOS; Alicia Matijasevich MANITTO; Félix Têmis M et al

ISSN 2338-4618

2015 Artigo em periódico

HS Genetics (clinical)

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma

Genetics in Medicine

Puig SUSANA; Potrony MIRIAM; Cuellar FRANCISCO; Puig Butille Joan ANTON; Carrera CRISTINA et al

DOI ISSN 1098-3600

2015 Artigo em periódico

HS Genetics (clinical)

MPS I and MPS II: Minimal estimated incidence in Brazil and comparison to the rest of the world

Molecular Genetics and Metabolism (Print)

Federhen ANDRESSA; De Cássia Cascaes Batista CARLA; Burin MAIRA; Sandra Leistner SEGAL; Matte URSULA et al

DOI ISSN 1096-7192

2015 Artigo em periódico

LS Pharmacology; Toxicology and Pharmaceutics (miscellaneous)

Laronidase-Functionalized Multiple-Wall Lipid-Core Nanocapsules: Promising Formulation for a More Effective Treatment of Mucopolysaccharidosis Type I

PHARMACEUTICAL RESEARCH

Mayer Fabiana QUOOS; Adorne Márcia DUARTE; Bender Eduardo ANDRÉ; Talita Giacomet De CARVALHO; Dilda Anna CLÁUDIA et al

DOI ISSN 0724-8741

2014 Capítulo de livro

HS Medicine (miscellaneous)

Mucopolisacaridosis tipo II (síndrome de Hunter)

Diagnóstico y Tratamiento de las Enfermedades Metabólicas Hereditarias

Roberto GIUGLIANI; Moura De Souza CF; Netto C B O; Burin M G; Leistner Segal S et al

ISBN 9788415351

2014 Capítulo de livro

HS Endocrinology; Diabetes and Metabolism

Oligosacaridosis y mucolipidosis

Diagnóstico y Tratamiento de las Enfermedades Metabólicas Hereditarias

Moura De Souza CF; Taciane ALEGRA; Roberto GIUGLIANI; Ida Vanessa Doederlein SCHWARTZ

ISBN 9788415351

2014 Capítulo de livro

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII

JIMD Reports

Shimada TSUTOMU; Tomatsu SHUNJI; Yasuda ERIKO; Mason Robert W; Mackenzie William G et al

DOI ISBN 9783662445860

2014 Capítulo de livro

HS Medicine (miscellaneous)

Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age

JIMD Reports

Lampe CHRISTINA; Atherton ANDREA; Burton Barbara K; Descartes MARIA; Roberto GIUGLIANI et al

DOI ISBN 9783662437476

2014 Capítulo de livro

HS Medicine (miscellaneous)

Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II; IVA; and IVB

JIMD Reports

Shimada TSUTOMU; Tomatsu SHUNJI; Mason Robert W; Yasuda ERIKO; Mackenzie William G et al

DOI ISBN 9783662471715

2014 Artigo em periódico

HS Genetics (clinical)

Enzyme replacement therapy with double-dose Iaronidase every other week is safe and effective: case reports and glycosaminoglycan excretion patterns in ten mucopolysaccharidosis type I patients

Molecular Genetics and Metabolism (Print)

Dafne Dain Gandelman HOROVITZ; Souza CAROLINA; Dafne Dain Gandelman HOROVITZ; Acosta ANGELINA; Esposito Ana CAROLINA et al

DOI ISSN 1096-7192

2014 Artigo em periódico

LS Genetics

Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients

Molecular Genetics and Metabolism (Print)

Brusius Facchin A C; Schwartz I V D; Zimmer C; Marcia Goncalves RIBEIRO; Marcia Goncalves RIBEIRO et al

DOI ISSN 1096-7192

2014 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Anthropometry; Nutritional Status; and Dietary Intake in Pediatric Patients with Osteogenesis Imperfecta

Journal of the American College of Nutrition (Print)

Zambrano Marina B; Brizola Evelise S; Lilia REFOSCO; Roberto GIUGLIANI; Félix Têmis M

DOI ISSN 0731-5724