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
2006	Artigo em periódico	Assessment of a pioneer metabolic information service in Brazil - S BRUSTOLIN; C SOUZA; L REFOSCO; Ricardo Flores PIRES; R PERES et al Community Genetics DOI 10.1159/000091494 ISSN 1422-2795	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2006	Artigo em periódico	Serum S100B Protein Is Increased in Fasting Rats Netto C; S CONTE; M LEITE; C PIRES; Martins T et al Archives of Medical Research DOI 10.1016/j.arcmed.2005.11.005 ISSN 0188-4409	HS Medicine (miscellaneous)
2006	Artigo em periódico	Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3; randomized; double-blind; placebo-controlled; multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or RHASB) and follow-on; open-label extension study. P HARMATZ; Roberto GIUGLIANI; Ida Vanessa SCHWARTZ; N GUFFON; E L TELES et al The Journal of Pediatrics DOI 10.1016/j.jpeds.2005.12.014 ISSN 0022-3476	HS Pediatrics; Perinatology and Child Health
2006	Artigo em periódico	Type B Niemann-Pick Disease: findings at chest radiography; thin-section CT; and pulmonary function testing M WASSERSTEIN; R DESNICK; R GLASS; W SIMPSON; G SKLOOT et al Radiology ISSN 0033-8419	HS Radiology; Nuclear Medicine and Imaging
2006	Artigo em periódico	Further cases of neighbor mutations in mucopolysaccharidosis type I Ida Vanessa SCHWARTZ; L LIMA; K TYLEE; R P Oliveira SOBRINHO; Denise NORATO et al American Journal of Medical Genetics ISSN 0148-7299	HS Genetics (clinical)
2006	Artigo em periódico	Epstein-barr virus-induced transformation of B cells for the diagnosis of Genetic Metabolic disorders - enumerative conditions for cryopreservation. A S MELLO; M G BURIN; Kristiane MICHELIN; Marli Viapiana CAMELIER; Roberto GIUGLIANI et al Cell Proliferation ISSN 0960-7722	LS Virology
2006	Artigo em periódico	Prevalence of G6PD deficiency in newborns in the south of Brazil. S CASTRO; V DADALT; R WEBER; V TAVARES; Roberto GIUGLIANI Journal of Medical Screening ISSN 0969-1413	HS Genetics (clinical)
2006	Artigo em periódico	Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion Leonardo VEDOLIN; Rogerio S SILVEIRA; Bianca C LOPES; Leticia S LAYBAUER; Maria Luiza Saraiva PEREIRA et al Child's Nervous System DOI 10.1007/s00381-006-0082-y ISSN 0256-7040	HS Neurology (clinical)
2006	Artigo em periódico	The natural history of juvenile or subacute GM2 gangliosidosis:21 new cases and literature review of 134 previously reported Gustavo MAEGAWA; Michael TROPAK; Tracey STOCKLEY; Brenda BANWELL; Susan BLASER et al Pediatrics (Evanston) DOI 10.1542/peds.2006-0588 ISSN 0031-4005	HS Pediatrics; Perinatology and Child Health
2006	Artigo em periódico	Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases Gabriel CIVALLERO; Kristiane MICHELIN; Jurema Fátima De MARI; Marli VIAPIANA; Maira BURIN et al Clinica Chimica Acta DOI 10.1016/j.cca.2006.03.029 ISSN 0009-8981	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2006	Artigo em periódico	Prospective study of 11 Brazilian patients with mucopolysaccharidosis II Louise Lapagesse De Camargo PINTO; Ida Vanessa SCHWARTZ; Ana Cristina Scheidt PUGA; Taiane Alves VIEIRA; María Verónica Rojas MUÑOZ et al Jornal de Pediatria ISSN 0021-7557	HS Pediatrics; Perinatology and Child Health
2006	Artigo em periódico	Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic strok Louise Lapagesse De Camargo PINTO; P ZEN; R ROSA; G PASKULIN; A PERLA et al Journal of Inherited Metabolic Disease DOI 10.1007/s10545-006-0188-0 ISSN 0141-8955	HS Endocrinology; Diabetes and Metabolism
2006	Artigo em periódico	Molecular Characterization of glucose-6-phosphate dehydrogenase deficiency in patients from Porto Alegre; RS - IN PRESS S CASTRO; Raquel WEBER; Ursula MATTE; Roberto GIUGLIANI Genetics and Molecular Biology ISSN 1415-4757	LS Genetics
2006	Artigo em periódico	The effect of Lorenzo`s oil on oxidative stress in X-linked adrenoleukodystrophy Marion DEON; Moacir WAJNER; Lisana SIRTORI; Douglas FITARELLI; Daniella De Moura COELHO et al Journal of the Neurological Sciences DOI 10.1016/j.jns.2006.04.004 ISSN 0022-510X	LS Neurology
2006	Artigo em periódico	Improvement of sympathetic skin responses after enzyme replacement therapy in Fabry disease Laura Bannach JARDIM; I GOMES; Cristina Brinckmann De Oliveira NETTO; D B NORA; Ursula MATTE et al Journal of Inherited Metabolic Disease DOI 10.1007/s10545-006-0339-3 ISSN 0141-8955	HS Endocrinology; Diabetes and Metabolism
2006	Artigo em periódico	A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) J MUENZER; J E WRAITH; P HARMATZ; Roberto GIUGLIANI; C M ENG et al Genetics in Medicine DOI 10.1097/01.gim.0000232477.37660.fb ISSN 1098-3600	HS Genetics (clinical)
2006	Artigo em periódico	Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings A TROTT; Laura Bannach JARDIM; LUDWIG; SAUTE; Osvaldo ARTIGALÁS et al Clinical Genetics DOI 10.1111/j.1399-0004.2006.00656.x ISSN 0009-9163	HS Genetics (clinical)
2006	Artigo em periódico	Dermal melanocytosis associated with GM1-Gangliosidosis Type I Leila BLOCH; Fernando MATSUMOTO; Walter Belda JR; Roberto GIUGLIANI; Luiz Fernando MENEZES et al Acta Dermato-Venereologica ISSN 0001-5555	HS Dermatology
2006	Artigo em periódico	Neuropathic pain in a young female patient with Fabry`s disease: a new mutation of the alpha-galactosidase A gene J M POLITEI; PAGANO; PEREIRA; Ursula MATTE; Maira BURIN et al Revista de Neurología ISSN 0210-0010	LS Neurology
2006	Artigo em periódico	White matter lesions in Fabry disease before and after enzyme replacement therapy Laura Bannach JARDIM; VEDOLIN; Cláudio Pitta PINHEIRO; João MARCONATO; Maira Graeff BURIN et al Arquivos Brasileiros de Psiquiatria; Neurologia e Medicina Legal ISSN 1518-3327	HS Neurology (clinical)
2006	Artigo em periódico	The role of methylenetetrahydrofolate reductase in acute lymphoblastic leukemia in a brazilian mixed population CRISIANE; ANA; MARIANA; Têmis Maria FÉLIX; Sandra Leistner SEGAL et al Leukemia Research DOI 10.1016/j.leukres.2005.08.008 ISSN 0145-2126	LS Genetics
2006	Artigo em periódico	Updating the genetic code: interference RNA - a comment on the Nobel Prize in Physiology or Medicine 2006. Ursula MATTE; Fernanda OLIVEIRA; Roberto GIUGLIANI Revista do HCPA & Faculdade de Medicina da Universidade Federal do Rio Grande do Sul ISSN 0101-5575	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2006	Artigo em periódico	Investigation of oxidative stress parameters in treated phenylketonuria patients Angela SITTA; Alethéa Gatto BARSCHAK; Marion DEON; T TERROSO; Ricardo PIRES et al Metabolic Brain Disease DOI 10.1007/s11011-006-9035-0 ISSN 0885-7490	HS Endocrinology; Diabetes and Metabolism
2006	Artigo em periódico	Fabry Disease: diagnosis of a rare disorder Cristina Brinckmann De Oliveira NETTO; Maira Graeff BURIN; Laura Bannach JARDIM; Marilyn TSAO; FERNANDA et al Revista do HCPA & Faculdade de Medicina da Universidade Federal do Rio Grande do Sul ISSN 0101-5575	HS Medicine (miscellaneous)
2006	Artigo em periódico	Diagnosis and Molecular Characterization of Nonclassic Forms of Tay-Sachs Disease in Brazil Rozenberg R; Fernando KOK; Burin M G; Sá Miranda M C; Vasques C et al Journal of Child Neurology DOI 10.1177/08830738060210061101 ISSN 0883-0738	HS Genetics (clinical)

2006 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Assessment of a pioneer metabolic information service in Brazil -

Community Genetics

S BRUSTOLIN; C SOUZA; L REFOSCO; Ricardo Flores PIRES; R PERES et al

DOI ISSN 1422-2795

2006 Artigo em periódico

HS Medicine (miscellaneous)

Serum S100B Protein Is Increased in Fasting Rats

Archives of Medical Research

Netto C; S CONTE; M LEITE; C PIRES; Martins T et al

DOI ISSN 0188-4409

2006 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3; randomized; double-blind; placebo-controlled; multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or RHASB) and follow-on; open-label extension study.

The Journal of Pediatrics

P HARMATZ; Roberto GIUGLIANI; Ida Vanessa SCHWARTZ; N GUFFON; E L TELES et al

DOI ISSN 0022-3476

2006 Artigo em periódico

HS Radiology; Nuclear Medicine and Imaging

Type B Niemann-Pick Disease: findings at chest radiography; thin-section CT; and pulmonary function testing

Radiology

M WASSERSTEIN; R DESNICK; R GLASS; W SIMPSON; G SKLOOT et al

ISSN 0033-8419

2006 Artigo em periódico

HS Genetics (clinical)

Further cases of neighbor mutations in mucopolysaccharidosis type I

American Journal of Medical Genetics

Ida Vanessa SCHWARTZ; L LIMA; K TYLEE; R P Oliveira SOBRINHO; Denise NORATO et al

ISSN 0148-7299

2006 Artigo em periódico

LS Virology

Epstein-barr virus-induced transformation of B cells for the diagnosis of Genetic Metabolic disorders - enumerative conditions for cryopreservation.

Cell Proliferation

A S MELLO; M G BURIN; Kristiane MICHELIN; Marli Viapiana CAMELIER; Roberto GIUGLIANI et al

ISSN 0960-7722

2006 Artigo em periódico

HS Genetics (clinical)

Prevalence of G6PD deficiency in newborns in the south of Brazil.

Journal of Medical Screening

S CASTRO; V DADALT; R WEBER; V TAVARES; Roberto GIUGLIANI

ISSN 0969-1413

2006 Artigo em periódico

HS Neurology (clinical)

Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion

Child's Nervous System

Leonardo VEDOLIN; Rogerio S SILVEIRA; Bianca C LOPES; Leticia S LAYBAUER; Maria Luiza Saraiva PEREIRA et al

DOI ISSN 0256-7040

2006 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

The natural history of juvenile or subacute GM2 gangliosidosis:21 new cases and literature review of 134 previously reported

Pediatrics (Evanston)

Gustavo MAEGAWA; Michael TROPAK; Tracey STOCKLEY; Brenda BANWELL; Susan BLASER et al

DOI ISSN 0031-4005

2006 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases

Clinica Chimica Acta

Gabriel CIVALLERO; Kristiane MICHELIN; Jurema Fátima De MARI; Marli VIAPIANA; Maira BURIN et al

DOI ISSN 0009-8981

2006 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Prospective study of 11 Brazilian patients with mucopolysaccharidosis II

Jornal de Pediatria

Louise Lapagesse De Camargo PINTO; Ida Vanessa SCHWARTZ; Ana Cristina Scheidt PUGA; Taiane Alves VIEIRA; María Verónica Rojas MUÑOZ et al

ISSN 0021-7557

2006 Artigo em periódico

HS Endocrinology; Diabetes and Metabolism

Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic strok

Journal of Inherited Metabolic Disease

Louise Lapagesse De Camargo PINTO; P ZEN; R ROSA; G PASKULIN; A PERLA et al

DOI ISSN 0141-8955

2006 Artigo em periódico

LS Genetics

Molecular Characterization of glucose-6-phosphate dehydrogenase deficiency in patients from Porto Alegre; RS - IN PRESS

Genetics and Molecular Biology

S CASTRO; Raquel WEBER; Ursula MATTE; Roberto GIUGLIANI

ISSN 1415-4757

2006 Artigo em periódico

LS Neurology

The effect of Lorenzo`s oil on oxidative stress in X-linked adrenoleukodystrophy

Journal of the Neurological Sciences

Marion DEON; Moacir WAJNER; Lisana SIRTORI; Douglas FITARELLI; Daniella De Moura COELHO et al

DOI ISSN 0022-510X

2006 Artigo em periódico

HS Endocrinology; Diabetes and Metabolism

Improvement of sympathetic skin responses after enzyme replacement therapy in Fabry disease

Journal of Inherited Metabolic Disease

Laura Bannach JARDIM; I GOMES; Cristina Brinckmann De Oliveira NETTO; D B NORA; Ursula MATTE et al

DOI ISSN 0141-8955

2006 Artigo em periódico

HS Genetics (clinical)

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

Genetics in Medicine

J MUENZER; J E WRAITH; P HARMATZ; Roberto GIUGLIANI; C M ENG et al

DOI ISSN 1098-3600

2006 Artigo em periódico

HS Genetics (clinical)

Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings

Clinical Genetics

A TROTT; Laura Bannach JARDIM; LUDWIG; SAUTE; Osvaldo ARTIGALÁS et al

DOI ISSN 0009-9163

2006 Artigo em periódico

HS Dermatology

Dermal melanocytosis associated with GM1-Gangliosidosis Type I

Acta Dermato-Venereologica

Leila BLOCH; Fernando MATSUMOTO; Walter Belda JR; Roberto GIUGLIANI; Luiz Fernando MENEZES et al

ISSN 0001-5555

2006 Artigo em periódico

LS Neurology

Neuropathic pain in a young female patient with Fabry`s disease: a new mutation of the alpha-galactosidase A gene

Revista de Neurología

J M POLITEI; PAGANO; PEREIRA; Ursula MATTE; Maira BURIN et al

ISSN 0210-0010

2006 Artigo em periódico

HS Neurology (clinical)

White matter lesions in Fabry disease before and after enzyme replacement therapy

Arquivos Brasileiros de Psiquiatria; Neurologia e Medicina Legal

Laura Bannach JARDIM; VEDOLIN; Cláudio Pitta PINHEIRO; João MARCONATO; Maira Graeff BURIN et al

ISSN 1518-3327

2006 Artigo em periódico

LS Genetics

The role of methylenetetrahydrofolate reductase in acute lymphoblastic leukemia in a brazilian mixed population

Leukemia Research

CRISIANE; ANA; MARIANA; Têmis Maria FÉLIX; Sandra Leistner SEGAL et al

DOI ISSN 0145-2126

2006 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Updating the genetic code: interference RNA - a comment on the Nobel Prize in Physiology or Medicine 2006.

Revista do HCPA & Faculdade de Medicina da Universidade Federal do Rio Grande do Sul

Ursula MATTE; Fernanda OLIVEIRA; Roberto GIUGLIANI

ISSN 0101-5575

2006 Artigo em periódico

HS Endocrinology; Diabetes and Metabolism

Investigation of oxidative stress parameters in treated phenylketonuria patients

Metabolic Brain Disease

Angela SITTA; Alethéa Gatto BARSCHAK; Marion DEON; T TERROSO; Ricardo PIRES et al

DOI ISSN 0885-7490

2006 Artigo em periódico

HS Medicine (miscellaneous)

Fabry Disease: diagnosis of a rare disorder

Revista do HCPA & Faculdade de Medicina da Universidade Federal do Rio Grande do Sul

Cristina Brinckmann De Oliveira NETTO; Maira Graeff BURIN; Laura Bannach JARDIM; Marilyn TSAO; FERNANDA et al

ISSN 0101-5575

2006 Artigo em periódico

HS Genetics (clinical)

Diagnosis and Molecular Characterization of Nonclassic Forms of Tay-Sachs Disease in Brazil

Journal of Child Neurology

Rozenberg R; Fernando KOK; Burin M G; Sá Miranda M C; Vasques C et al

DOI ISSN 0883-0738