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
2016	Artigo em periódico	The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat Benjamin Elfrida R; Della Valle Maria CECILIA; Wu XIAOYANG; Katz EVAN; Pruthi FARHANA et al Genetics in Medicine DOI 10.1038/gim.2016.122 ISSN 1098-3600	HS Genetics (clinical)
2016	Artigo em periódico	Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy; late onset metachromatic leukodystrophy and Hurler syndrome Saute Jonas Alex MORALES; Souza Carolina Fischinger Moura DE; Poswar Fabiano De OLIVEIRA; Donis Karina CARVALHO; Campos Lillian GONÇALVES et al Arquivos de Neuro-Psiquiatria (Online) DOI 10.1590/0004-282x20160155 ISSN 1678-4227	HS Neurology (clinical)
2016	Artigo em periódico	A 15-Year Perspective of the Fabry Outcome Survey Roberto GIUGLIANI; Niu D M; Ramaswami U; West M; D HUGHES et al Journal of Inborn Errors of Metabolism & Screening DOI 10.1177/2326409816666298 ISSN 2326-4098	HS Genetics (clinical)
2016	Artigo em periódico	Intellectual Disability in a Birth Cohort: Prevalence; Etiology; and Determinants at the Age of 4 Years Karam Simone M; Barros Aluísio J D; Matijasevich ALÍCIA; Dos Santos Iná S; Anselmi LUCIANA et al Public Health Genomics DOI 10.1159/000448912 ISSN 1662-4246	HS Public Health; Environmental and Occupational Health
2016	Artigo em periódico	Encapsulated Whole Bone Marrow Cells Improve Survival in Wistar Rats after 90% Partial Hepatectomy Uribe Cruz CAROLINA; Kieling Carlos OSCAR; López Mónica LUJÁN; Osvaldt ALESSANDRO; Ochs De Muñoz GUSTAVO et al Stem Cells International DOI 10.1155/2016/4831524 ISSN 1687-966X	LS Cell Biology
2016	Artigo em periódico	Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses Kubaski FRANCYNE; Suzuki YASUYUKI; Orii KENJI; Roberto GIUGLIANI; Church Heather J et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2016.12.010 ISSN 1096-7192	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2016	Artigo em periódico	Valores de Referencia de Β-Glucosidasa Y Quitotriosidasa em Gotas De Sangre Seca De Lactantes Venezolanos. Miranda L E; Chacín J Á; Chávez J C; Méndez K; Bracho A et al Archivos venezolanos de puericultura y pediatría ISSN 0004-0649	HS Nutrition and Dietetics
2015	Capítulo de livro	Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI Pereira Denise Rotta RUTTKAY; Schweiger CLAUDIA; De Souza Carolina F; Fagondes SIMONE; Manica DENISE et al JIMD Reports DOI 10.1007/8904_2015_513 ISBN 999999999X	HS Medicine (miscellaneous)
2015	Capítulo de livro	Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology Da Rocha Siqueira Thabata CAROLINE; De Souza Carolina Fischinger MOURA; Lompa PAULO; Picarelli MERCEDES; Scheibel ILÓITE et al JIMD Reports DOI 10.1007/8904_2015_484 ISBN 8904201548	HS Medicine (miscellaneous)
2015	Livro	Neuroimaging Clinics of North America Longo Maria GABRIELA; Vairo FILIPPO; Souza Carolina F; Roberto GIUGLIANI; Vedolin Leonardo M — ISBN 9780323417006	HS Radiology; Nuclear Medicine and Imaging
2015	Artigo em periódico	Brain Imaging and Genetic Risk in the Pediatric Population; Part 1 Longo Maria GABRIELA; Filippo Pinto E VAIRO; Souza Carolina FISCHINGER; Roberto GIUGLIANI; Vedolin Leonardo MODESTI Neuroimaging Clinics of North America DOI 10.1016/j.nic.2014.09.004 ISSN 1052-5149	HS Neurology (clinical)
2015	Artigo em periódico	Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome Harmatz Paul R; Mengel Karl EUGEN; Roberto GIUGLIANI; Valayannopoulos VASSILI; Lin Shuan PEI et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2014.10.015 ISSN 1096-7192	HS Medicine (miscellaneous)
2015	Artigo em periódico	Therapies for the bone in mucopolysaccharidoses Tomatsu SHUNJI; Alméciga Díaz Carlos J; Montaño Adriana M; Yabe HIROMASA; Tanaka AKEMI et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2014.12.001 ISSN 1096-7192	HS Medicine (miscellaneous)
2015	Artigo em periódico	Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome) Roberto GIUGLIANI; Brusius Facchin Ana CAROLINA; Moura De Souza Carolina FISCHINGER; Civallero GABRIEL; Burin MAIRA et al Expert Opinion on Orphan Drugs DOI 10.1517/21678707.2015.999666 ISSN 2167-8707	HS General Medicine
2015	Artigo em periódico	Effects of Enzyme Replacement Therapy Started Late in a Murine Model of Mucopolysaccharidosis Type I Pasqualim GABRIELA; Guilherme BALDO; De Carvalho Talita GIACOMET; Tavares Angela Maria VICENTE; Roberto GIUGLIANI et al Plos One DOI 10.1371/journal.pone.0117271 ISSN 1932-6203	HS General Medicine
2015	Artigo em periódico	International guidelines for the management and treatment of Morquio A syndrome Hendriksz Christian J; Berger Kenneth I; Roberto GIUGLIANI; Harmatz PAUL; Kampmann CHRISTOPH et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.36833 ISSN 1552-4825	HS Genetics (clinical)
2015	Artigo em periódico	A Case of Early Infantile Pompe Disease with Atypical Manifestation Carolina Fischinger Moura De SOUZA; Karina Carvalho DONIS; Filippo VAIRO; M BURIM; Simone FAGONDES et al Journal of Neuromuscular Diseases DOI 10.3233/JND-159015 ISSN 2214-3602	HS Neurology (clinical)
2015	Artigo em periódico	Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil. Mariluce RIEGEL; Natália BARCELLOS; Rafaella MERGENER; De Souza Karen Regina Da SILVA; Júlio César Loguercio LEITE et al Clin Biomed Res ISSN 2357-9730	LS Genetics
2015	Artigo em periódico	Genome Editing: Potential Treatment for Lysosomal Storage Diseases De Carvalho Talita GIACOMET; Da Silveira Matte URSULA; Roberto GIUGLIANI; Guilherme BALDO Current Stem Cell Reports DOI 10.1007/s40778-014-0007-8 ISSN 2198-7866	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2015	Artigo em periódico	Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II. Leistner Segal S; Brusius Facchin ANA; Burin Maira GRAEF; Maria Teresa Vieira SANSEVERINO; J A MAGALHÃES et al Clinical and Biomedical Research ISSN 2357-9730	HS Medicine (miscellaneous)
2015	Artigo em periódico	Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances Emy Dorfman LUIZA; Leite Júlio César L; Roberto GIUGLIANI; Riegel MARILUCE Jornal de Pediatria (Impresso) DOI 10.1016/j.jped.2014.05.007 ISSN 0021-7557	LS Genetics
2015	Artigo em periódico	Shotgun proteomics reveals possible mechanisms for cognitive impairment in Mucopolysaccharidosis I mice Guilherme BALDO; Lorenzini Daniel MACEDO; Santos Diogenes SANTIAGO; Mayer Fabiana QUOOS; Vitry SANDRINE et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2014.12.301 ISSN 1096-7192	LS Neuroscience (miscellaneous)
2015	Artigo em periódico	Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis Beck MICHAEL; Hughes DERRALYNN; Kampmann CHRISTOPH; Larroque SYLVAIN; Mehta ATUL et al Molecular Genetics and Metabolism Reports DOI 10.1016/j.ymgmr.2015.02.002 ISSN 2214-4269	LS Genetics
2015	Artigo em periódico	Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy Donida BRUNA; Marchetti Desirèe P; Biancini Giovana B; Marion DEON; Manini Paula R et al Biochimica et Biophysica Acta. Molecular Basis of Disease DOI 10.1016/j.bbadis.2015.02.004 ISSN 0925-4439	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2015	Artigo em periódico	LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases Klinke GLYNIS; Rohrbach MARIANNE; Roberto GIUGLIANI; Burda PATRICIE; Baumgartner Matthias R et al Clinical Biochemistry DOI 10.1016/j.clinbiochem.2015.03.007 ISSN 0009-9120	HS Genetics (clinical)

2016 Artigo em periódico

HS Genetics (clinical)

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

Genetics in Medicine

Benjamin Elfrida R; Della Valle Maria CECILIA; Wu XIAOYANG; Katz EVAN; Pruthi FARHANA et al

DOI ISSN 1098-3600

2016 Artigo em periódico

HS Neurology (clinical)

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy; late onset metachromatic leukodystrophy and Hurler syndrome

Arquivos de Neuro-Psiquiatria (Online)

Saute Jonas Alex MORALES; Souza Carolina Fischinger Moura DE; Poswar Fabiano De OLIVEIRA; Donis Karina CARVALHO; Campos Lillian GONÇALVES et al

DOI ISSN 1678-4227

2016 Artigo em periódico

HS Genetics (clinical)

A 15-Year Perspective of the Fabry Outcome Survey

Journal of Inborn Errors of Metabolism & Screening

Roberto GIUGLIANI; Niu D M; Ramaswami U; West M; D HUGHES et al

DOI ISSN 2326-4098

2016 Artigo em periódico

HS Public Health; Environmental and Occupational Health

Intellectual Disability in a Birth Cohort: Prevalence; Etiology; and Determinants at the Age of 4 Years

Public Health Genomics

Karam Simone M; Barros Aluísio J D; Matijasevich ALÍCIA; Dos Santos Iná S; Anselmi LUCIANA et al

DOI ISSN 1662-4246

2016 Artigo em periódico

LS Cell Biology

Encapsulated Whole Bone Marrow Cells Improve Survival in Wistar Rats after 90% Partial Hepatectomy

Stem Cells International

Uribe Cruz CAROLINA; Kieling Carlos OSCAR; López Mónica LUJÁN; Osvaldt ALESSANDRO; Ochs De Muñoz GUSTAVO et al

DOI ISSN 1687-966X

2016 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses

MOLECULAR GENETICS AND METABOLISM

Kubaski FRANCYNE; Suzuki YASUYUKI; Orii KENJI; Roberto GIUGLIANI; Church Heather J et al

DOI ISSN 1096-7192

2016 Artigo em periódico

HS Nutrition and Dietetics

Valores de Referencia de Β-Glucosidasa Y Quitotriosidasa em Gotas De Sangre Seca De Lactantes Venezolanos.

Archivos venezolanos de puericultura y pediatría

Miranda L E; Chacín J Á; Chávez J C; Méndez K; Bracho A et al

ISSN 0004-0649

2015 Capítulo de livro

HS Medicine (miscellaneous)

Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI

JIMD Reports

Pereira Denise Rotta RUTTKAY; Schweiger CLAUDIA; De Souza Carolina F; Fagondes SIMONE; Manica DENISE et al

DOI ISBN 999999999X

2015 Capítulo de livro

HS Medicine (miscellaneous)

Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology

JIMD Reports

Da Rocha Siqueira Thabata CAROLINE; De Souza Carolina Fischinger MOURA; Lompa PAULO; Picarelli MERCEDES; Scheibel ILÓITE et al

DOI ISBN 8904201548

2015 Livro

HS Radiology; Nuclear Medicine and Imaging

Neuroimaging Clinics of North America

—

Longo Maria GABRIELA; Vairo FILIPPO; Souza Carolina F; Roberto GIUGLIANI; Vedolin Leonardo M

ISBN 9780323417006

2015 Artigo em periódico

HS Neurology (clinical)

Brain Imaging and Genetic Risk in the Pediatric Population; Part 1

Neuroimaging Clinics of North America

Longo Maria GABRIELA; Filippo Pinto E VAIRO; Souza Carolina FISCHINGER; Roberto GIUGLIANI; Vedolin Leonardo MODESTI

DOI ISSN 1052-5149

2015 Artigo em periódico

HS Medicine (miscellaneous)

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome

Molecular Genetics and Metabolism (Print)

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

DOI ISSN 1096-7192

2015 Artigo em periódico

HS Medicine (miscellaneous)

Therapies for the bone in mucopolysaccharidoses

Molecular Genetics and Metabolism (Print)

Tomatsu SHUNJI; Alméciga Díaz Carlos J; Montaño Adriana M; Yabe HIROMASA; Tanaka AKEMI et al

DOI ISSN 1096-7192

2015 Artigo em periódico

HS General Medicine

Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)

Expert Opinion on Orphan Drugs

Roberto GIUGLIANI; Brusius Facchin Ana CAROLINA; Moura De Souza Carolina FISCHINGER; Civallero GABRIEL; Burin MAIRA et al

DOI ISSN 2167-8707

2015 Artigo em periódico

HS General Medicine

Effects of Enzyme Replacement Therapy Started Late in a Murine Model of Mucopolysaccharidosis Type I

Plos One

Pasqualim GABRIELA; Guilherme BALDO; De Carvalho Talita GIACOMET; Tavares Angela Maria VICENTE; Roberto GIUGLIANI et al

DOI ISSN 1932-6203

2015 Artigo em periódico

HS Genetics (clinical)

International guidelines for the management and treatment of Morquio A syndrome

American Journal of Medical Genetics. Part A

Hendriksz Christian J; Berger Kenneth I; Roberto GIUGLIANI; Harmatz PAUL; Kampmann CHRISTOPH et al

DOI ISSN 1552-4825

2015 Artigo em periódico

HS Neurology (clinical)

A Case of Early Infantile Pompe Disease with Atypical Manifestation

Journal of Neuromuscular Diseases

Carolina Fischinger Moura De SOUZA; Karina Carvalho DONIS; Filippo VAIRO; M BURIM; Simone FAGONDES et al

DOI ISSN 2214-3602

2015 Artigo em periódico

LS Genetics

Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil.

Clin Biomed Res

Mariluce RIEGEL; Natália BARCELLOS; Rafaella MERGENER; De Souza Karen Regina Da SILVA; Júlio César Loguercio LEITE et al

ISSN 2357-9730

2015 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Genome Editing: Potential Treatment for Lysosomal Storage Diseases

Current Stem Cell Reports

De Carvalho Talita GIACOMET; Da Silveira Matte URSULA; Roberto GIUGLIANI; Guilherme BALDO

DOI ISSN 2198-7866

2015 Artigo em periódico

HS Medicine (miscellaneous)

Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II.

Clinical and Biomedical Research

Leistner Segal S; Brusius Facchin ANA; Burin Maira GRAEF; Maria Teresa Vieira SANSEVERINO; J A MAGALHÃES et al

ISSN 2357-9730

2015 Artigo em periódico

LS Genetics

Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances

Jornal de Pediatria (Impresso)

Emy Dorfman LUIZA; Leite Júlio César L; Roberto GIUGLIANI; Riegel MARILUCE

DOI ISSN 0021-7557

2015 Artigo em periódico

LS Neuroscience (miscellaneous)

Shotgun proteomics reveals possible mechanisms for cognitive impairment in Mucopolysaccharidosis I mice

Molecular Genetics and Metabolism (Print)

Guilherme BALDO; Lorenzini Daniel MACEDO; Santos Diogenes SANTIAGO; Mayer Fabiana QUOOS; Vitry SANDRINE et al

DOI ISSN 1096-7192

2015 Artigo em periódico

LS Genetics

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

Molecular Genetics and Metabolism Reports

Beck MICHAEL; Hughes DERRALYNN; Kampmann CHRISTOPH; Larroque SYLVAIN; Mehta ATUL et al

DOI ISSN 2214-4269

2015 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy

Biochimica et Biophysica Acta. Molecular Basis of Disease

Donida BRUNA; Marchetti Desirèe P; Biancini Giovana B; Marion DEON; Manini Paula R et al

DOI ISSN 0925-4439

2015 Artigo em periódico

HS Genetics (clinical)

LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases

Clinical Biochemistry

Klinke GLYNIS; Rohrbach MARIANNE; Roberto GIUGLIANI; Burda PATRICIE; Baumgartner Matthias R et al

DOI ISSN 0009-9120