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
2000	Trabalho em evento	DETECÇÃO DE ERROS INATOS DO METABOLISMO DE ÁCIDOS ORGÂNICOS EM PACIENTES DE ALTO RISCO NO BRASIL G C FERREIRA; Moacir WAJNER; C R VARGAS; D M COELHO; A G BARSCHAK et al XII SALÃO DE INICIAÇÃO CIENTÍFICA E IX FEIRA DA UFRGS	HS Genetics (clinical)
2000	Trabalho em evento	DIAGNÓSTICO MOLECULAR DE PACIENTES COM DOENÇA DE MACHADO-JOSEPH T S CARVALHO; L JARDIM; Roberto GIUGLIANI; Maria Luiza Saraiva PEREIRA XII SALÃO DE INICIAÇÃO CIENTÍFICA E IX FEIRA DA UFRGS	LS Genetics
2000	Trabalho em evento	ASPECTOS CLÍNICOS E BIOQUÍMICOS DE 7 PACIENTES ADRENOLEUCODISTRÓFICOS TRATADOS COM ÓLEO DE LORENZO A G BARSCHAK; D M COELHO; V FURLANETTO; S KARAM; L JARDIM et al XII SALÃO DE INICIAÇÃO CIENTÍFICA E IX FEIRA DA UFRGS	HS Genetics (clinical)
2000	Trabalho em evento	INVESTIGAÇÃO DAS OBSTRUÇÕES DAS VIAS AÉREAS EM PACIENTES COM MUCOPOLISSACARIDOSE Roberto GIUGLIANI; S F CANANI; Ida Vanessa SCHWARTZ; S Menna BARRETO XXX CONGRESSO BRASILEIRO DE PNEUMOLOGIA E TISIOLOGIA	HS Genetics (clinical)
2000	Trabalho em evento	CARPAL TUNNEL SYNDROME IN MUCOPOLISACARIDOSIS PATIENTS Roberto GIUGLIANI XIX CONGRESSO BRASILEIRO DE NEUROLOGIA E II ENCONTRO LUSO-BRASILEIRO DE NEUROLOGIA	HS Neurology (clinical)
2000	Trabalho em evento	INVESTIGAÇÃO DOS PARÂMETROS POPULACIONAIS EM UMA POPULAÇÃO MINEIRA COM ALTA FREQUÊNCIA DE GALACTOSEMIA L S COTTA; C G FONSECA; I M G SOARES; C CANCELLA; S J S CRONEMBERGER et al IX SEMANA DE INICIAÇÃO CIENTÍFICA DA UFMG E I SEMANA DO CONHECIMENTO DA UFMG	HS General Medicine
2000	Trabalho em evento	ENZYME REPLACEMENT THERAPHY IN GAUCHER DISEASE TYPE 3. R F PIRES; Kristiane MICHELIN; Roberto GIUGLIANI; Maria Luiza Saraiva PEREIRA; Janice Carneiro COELHO VIII INTERNATIONAL CONGRESS OF INBORN ERRORS OF METABOLISM	HS General Medicine
2000	Trabalho em evento	GENOTHYPE-PHENOTYPE CORRELATION IN PATIENTS WITH PHENYLKETONURIA FROM SOUTH BRAZIL Maria Luiza Saraiva PEREIRA; L C S SILVA; T S CARVALHO; F B SILVA; L MORARI et al VIII INTERNATIONAL CONGRESS OF INBORN ERRORS OF METABOLISM	HS Genetics (clinical)
2000	Trabalho em evento	HYPERPHENYLALANINEMIA DUE TO PTERIN-4A-CARBINOLAMINE DEHYDRATASE DEFICIENCY (PCD): ANALYSIS OF INTESTINAL BIOPSIES N BLAU; S R BOERTH; S W BAILEY; Roberto GIUGLIANI; C BRAEGGER et al VIII INTERNATIONAL CONGRESS OF INBORN OFMETABOLISM	HS Medicine (miscellaneous)
2000	Trabalho em evento	SKELETAL ABNORMALITIES IN LATE DIAGNOSED HOMOCYSTINURIA S M KARAM; Ida Vanessa SCHWARTZ; C F M SOUZA; Roberto GIUGLIANI VIII INTERNATIONAL CONGRESS OF INBORN ERRORS OF METABOLISM	HS Medicine (miscellaneous)
2000	Trabalho em evento	LOW FREQUENCY OF THE G985A MCAD MUTATION IN BRAZIL Roberto GIUGLIANI; E LEWIS; Jurema Fátima De MARI; C D CASTILHOS; E Camargo NETO VIII INTERNATIONAL CONGRESS OF INBORN ERRORS OF METABOLISM	LS Genetics
2000	Trabalho em evento	BIOCHEMICAL AND MUTATIONAL ANALYSES OF PATIENTS WITH GAUCHER DISEASE Maria Luiza Saraiva PEREIRA; Kristiane MICHELIN; L GOULART; L MORARI; Alessandro WAJNER et al VIII INTERNATIONAL CONGRESS OF INBORN ERRORS OF METABOLISM	HS Medicine (miscellaneous)
2000	Trabalho em evento	BIOCHEMICAL CHARACTERIZATION OF ALFA-L-IDURONIDASE IN PLASMA AND LEUKOCYTES OF NORMAL INDIVIDUALS AND CARRIERS OF A COMMON MUTATION FOR HURLER`S DISEASE Janice Carneiro COELHO; J MANDELLI; Alessandro WAJNER; R F PIRES; Ida Vanessa SCHWARTZ et al VIII INTERNATIONAL CONGRESS OF INBORN ERRORS OF METABOLISM	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2000	Trabalho em evento	ANÁLISE MOLECULAR DA FENILCETONÚRIA NO SUL DO BRASIL Roberto GIUGLIANI; L C S SILVA; F B SILVA; T CARVALHO; L MORARI et al XI CONGRESSO MÉDICO AMAZÕNICO	HS Genetics (clinical)
2000	Artigo em periódico	Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of PAX2 1 Neu +/- mutant mice. S PORTEOUS; E TORBAN; Np CHO; H CUNLIFFE; L CHUA et al Human Molecular Genetics ISSN 0964-6906	LS Genetics
2000	Artigo em periódico	Unique frequency of known mutations in brazilian MPS I patients. Ursula MATTE; Sandra Leistner SEGAL; L LIMA; Ida Vanessa SCHWARTZ; Roberto GIUGLIANI American Journal of Medical Genetics ISSN 0148-7299	LS Genetics
2000	Artigo em periódico	Excreção de oligossacarídeos em indivíduos com Doença de Gaucher tipo I. D R ASSIS; Ana Paula BEHEREGARAY; R F PIRES; C S SILVA; Kristiane MICHELIN et al Revista Brasileira de Análises Clínicas ISSN 0370-369X	HS Medicine (miscellaneous)
2000	Artigo em periódico	Characterization of beta-galactosidase in leukocytes and fibroblasts of GM1 gangliosidosis heterozygotes compared to normal subjects. A SOPELSA; M H A SEVERINI; C M D SILVA; P R TOBO; Roberto GIUGLIANI et al Clinical Biochemistry ISSN 0009-9120	HS Genetics (clinical)
2000	Artigo em periódico	Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations. Janice Carneiro COELHO; Roberto GIUGLIANI Genetics and Molecular Biology ISSN 1415-4757	HS Genetics (clinical)
2000	Artigo em periódico	Cockayne syndrome: report of a brazilian family with confirmation of impaired RNA synthesis after UV-irradiation S M KARAM; J C COSTA; L JARDIM; R F PIRES; A R LEHMANN et al Genetics and Molecular Biology ISSN 1415-4757	LS Genetics
2000	Artigo em periódico	X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 brazilians patients. C R VARGAS; D M COELHO; A G BARSCHAK; C F M SOUZA; Ana Cristina Scheidt PUGA et al Genetics and Molecular Biology ISSN 1415-4757	LS Genetics
2000	Artigo em periódico	Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations. L C SILVA; T S CARVALHO; F B SILVA; R F PIRES; Roberto GIUGLIANI et al Clinical Genetics ISSN 0009-9163	LS Genetics
2000	Artigo em periódico	Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4A-hydroxytetrahydropterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies J E AYLING; S W BAILEY; S R BOERTH; Roberto GIUGLIANI; C P BRAEGGER et al Molecular Genetics and Metabolism ISSN 1096-7192	HS Medicine (miscellaneous)
2000	Artigo em periódico	Effect of collection; transport; processing and storage of blood specimens on the activity of lysosomal enzymes in plasma and leukocytes M BURIN; C DUTRAFILHO; J BRUM; T MAURICIO; M AMORIM et al Brazilian Journal of Medical and Biological Research ISSN 0100-879X	LS Clinical Biochemistry
2000	Artigo em periódico	Considerações sobre o momento da colheita na triagem neonatal Roberto GIUGLIANI; Ida Vanessa SCHWARTZ; E Camargo NETO Jornal de Pediatria ISSN 0021-7557	SH Psychology (miscellaneous)

2000 Trabalho em evento

HS Genetics (clinical)

DETECÇÃO DE ERROS INATOS DO METABOLISMO DE ÁCIDOS ORGÂNICOS EM PACIENTES DE ALTO RISCO NO BRASIL

XII SALÃO DE INICIAÇÃO CIENTÍFICA E IX FEIRA DA UFRGS

G C FERREIRA; Moacir WAJNER; C R VARGAS; D M COELHO; A G BARSCHAK et al

2000 Trabalho em evento

LS Genetics

DIAGNÓSTICO MOLECULAR DE PACIENTES COM DOENÇA DE MACHADO-JOSEPH

XII SALÃO DE INICIAÇÃO CIENTÍFICA E IX FEIRA DA UFRGS

T S CARVALHO; L JARDIM; Roberto GIUGLIANI; Maria Luiza Saraiva PEREIRA

2000 Trabalho em evento

HS Genetics (clinical)

ASPECTOS CLÍNICOS E BIOQUÍMICOS DE 7 PACIENTES ADRENOLEUCODISTRÓFICOS TRATADOS COM ÓLEO DE LORENZO

XII SALÃO DE INICIAÇÃO CIENTÍFICA E IX FEIRA DA UFRGS

A G BARSCHAK; D M COELHO; V FURLANETTO; S KARAM; L JARDIM et al

2000 Trabalho em evento

HS Genetics (clinical)

INVESTIGAÇÃO DAS OBSTRUÇÕES DAS VIAS AÉREAS EM PACIENTES COM MUCOPOLISSACARIDOSE

XXX CONGRESSO BRASILEIRO DE PNEUMOLOGIA E TISIOLOGIA

Roberto GIUGLIANI; S F CANANI; Ida Vanessa SCHWARTZ; S Menna BARRETO

2000 Trabalho em evento

HS Neurology (clinical)

CARPAL TUNNEL SYNDROME IN MUCOPOLISACARIDOSIS PATIENTS

XIX CONGRESSO BRASILEIRO DE NEUROLOGIA E II ENCONTRO LUSO-BRASILEIRO DE NEUROLOGIA

Roberto GIUGLIANI

2000 Trabalho em evento

HS General Medicine

INVESTIGAÇÃO DOS PARÂMETROS POPULACIONAIS EM UMA POPULAÇÃO MINEIRA COM ALTA FREQUÊNCIA DE GALACTOSEMIA

IX SEMANA DE INICIAÇÃO CIENTÍFICA DA UFMG E I SEMANA DO CONHECIMENTO DA UFMG

L S COTTA; C G FONSECA; I M G SOARES; C CANCELLA; S J S CRONEMBERGER et al

2000 Trabalho em evento

HS General Medicine

ENZYME REPLACEMENT THERAPHY IN GAUCHER DISEASE TYPE 3.

VIII INTERNATIONAL CONGRESS OF INBORN ERRORS OF METABOLISM

R F PIRES; Kristiane MICHELIN; Roberto GIUGLIANI; Maria Luiza Saraiva PEREIRA; Janice Carneiro COELHO

2000 Trabalho em evento

HS Genetics (clinical)

GENOTHYPE-PHENOTYPE CORRELATION IN PATIENTS WITH PHENYLKETONURIA FROM SOUTH BRAZIL

VIII INTERNATIONAL CONGRESS OF INBORN ERRORS OF METABOLISM

Maria Luiza Saraiva PEREIRA; L C S SILVA; T S CARVALHO; F B SILVA; L MORARI et al

2000 Trabalho em evento

HS Medicine (miscellaneous)

HYPERPHENYLALANINEMIA DUE TO PTERIN-4A-CARBINOLAMINE DEHYDRATASE DEFICIENCY (PCD): ANALYSIS OF INTESTINAL BIOPSIES

VIII INTERNATIONAL CONGRESS OF INBORN OFMETABOLISM

N BLAU; S R BOERTH; S W BAILEY; Roberto GIUGLIANI; C BRAEGGER et al

2000 Trabalho em evento

HS Medicine (miscellaneous)

SKELETAL ABNORMALITIES IN LATE DIAGNOSED HOMOCYSTINURIA

VIII INTERNATIONAL CONGRESS OF INBORN ERRORS OF METABOLISM

S M KARAM; Ida Vanessa SCHWARTZ; C F M SOUZA; Roberto GIUGLIANI

2000 Trabalho em evento

LS Genetics

LOW FREQUENCY OF THE G985A MCAD MUTATION IN BRAZIL

VIII INTERNATIONAL CONGRESS OF INBORN ERRORS OF METABOLISM

Roberto GIUGLIANI; E LEWIS; Jurema Fátima De MARI; C D CASTILHOS; E Camargo NETO

2000 Trabalho em evento

HS Medicine (miscellaneous)

BIOCHEMICAL AND MUTATIONAL ANALYSES OF PATIENTS WITH GAUCHER DISEASE

VIII INTERNATIONAL CONGRESS OF INBORN ERRORS OF METABOLISM

Maria Luiza Saraiva PEREIRA; Kristiane MICHELIN; L GOULART; L MORARI; Alessandro WAJNER et al

2000 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

BIOCHEMICAL CHARACTERIZATION OF ALFA-L-IDURONIDASE IN PLASMA AND LEUKOCYTES OF NORMAL INDIVIDUALS AND CARRIERS OF A COMMON MUTATION FOR HURLER`S DISEASE

VIII INTERNATIONAL CONGRESS OF INBORN ERRORS OF METABOLISM

Janice Carneiro COELHO; J MANDELLI; Alessandro WAJNER; R F PIRES; Ida Vanessa SCHWARTZ et al

2000 Trabalho em evento

HS Genetics (clinical)

ANÁLISE MOLECULAR DA FENILCETONÚRIA NO SUL DO BRASIL

XI CONGRESSO MÉDICO AMAZÕNICO

Roberto GIUGLIANI; L C S SILVA; F B SILVA; T CARVALHO; L MORARI et al

2000 Artigo em periódico

LS Genetics

Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of PAX2 1 Neu +/- mutant mice.

Human Molecular Genetics

S PORTEOUS; E TORBAN; Np CHO; H CUNLIFFE; L CHUA et al

ISSN 0964-6906

2000 Artigo em periódico

LS Genetics

Unique frequency of known mutations in brazilian MPS I patients.

American Journal of Medical Genetics

Ursula MATTE; Sandra Leistner SEGAL; L LIMA; Ida Vanessa SCHWARTZ; Roberto GIUGLIANI

ISSN 0148-7299

2000 Artigo em periódico

HS Medicine (miscellaneous)

Excreção de oligossacarídeos em indivíduos com Doença de Gaucher tipo I.

Revista Brasileira de Análises Clínicas

D R ASSIS; Ana Paula BEHEREGARAY; R F PIRES; C S SILVA; Kristiane MICHELIN et al

ISSN 0370-369X

2000 Artigo em periódico

HS Genetics (clinical)

Characterization of beta-galactosidase in leukocytes and fibroblasts of GM1 gangliosidosis heterozygotes compared to normal subjects.

Clinical Biochemistry

A SOPELSA; M H A SEVERINI; C M D SILVA; P R TOBO; Roberto GIUGLIANI et al

ISSN 0009-9120

2000 Artigo em periódico

HS Genetics (clinical)

Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations.

Genetics and Molecular Biology

Janice Carneiro COELHO; Roberto GIUGLIANI

ISSN 1415-4757

2000 Artigo em periódico

LS Genetics

Cockayne syndrome: report of a brazilian family with confirmation of impaired RNA synthesis after UV-irradiation

Genetics and Molecular Biology

S M KARAM; J C COSTA; L JARDIM; R F PIRES; A R LEHMANN et al

ISSN 1415-4757

2000 Artigo em periódico

LS Genetics

X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 brazilians patients.

Genetics and Molecular Biology

C R VARGAS; D M COELHO; A G BARSCHAK; C F M SOUZA; Ana Cristina Scheidt PUGA et al

ISSN 1415-4757

2000 Artigo em periódico

LS Genetics

Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations.

Clinical Genetics

L C SILVA; T S CARVALHO; F B SILVA; R F PIRES; Roberto GIUGLIANI et al

ISSN 0009-9163

2000 Artigo em periódico

HS Medicine (miscellaneous)

Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4A-hydroxytetrahydropterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies

Molecular Genetics and Metabolism

J E AYLING; S W BAILEY; S R BOERTH; Roberto GIUGLIANI; C P BRAEGGER et al

ISSN 1096-7192

2000 Artigo em periódico

LS Clinical Biochemistry

Effect of collection; transport; processing and storage of blood specimens on the activity of lysosomal enzymes in plasma and leukocytes

Brazilian Journal of Medical and Biological Research

M BURIN; C DUTRAFILHO; J BRUM; T MAURICIO; M AMORIM et al

ISSN 0100-879X

2000 Artigo em periódico

SH Psychology (miscellaneous)

Considerações sobre o momento da colheita na triagem neonatal

Jornal de Pediatria

Roberto GIUGLIANI; Ida Vanessa SCHWARTZ; E Camargo NETO

ISSN 0021-7557