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
2017	Artigo em periódico	Losartan improves aortic dilatation and cardiovascular disease in mucopolysaccharidosis I Gonzalez Esteban ALBERTO; Tavares Angela Maria VICENTE; Poletto EDINA; Roberto GIUGLIANI; Ursula MATTE et al JOURNAL OF INHERITED METABOLIC DISEASE DOI 10.1007/s10545-017-0014-x ISSN 0141-8955	HS Medicine (miscellaneous)
2017	Artigo em periódico	Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII Kubaski FRANCYNE; Brusius Facchin Ana CAROLINA; Mason Robert W; Patel PRAVIN; Burin Maira G et al PRENATAL DIAGNOSIS DOI 10.1002/pd.5028 ISSN 0197-3851	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2017	Artigo em periódico	Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency Mcgovern Margaret M; Dionisi Vici CARLO; Roberto GIUGLIANI; Hwu PAUL; Lidove OLIVIER et al Genetics in Medicine DOI 10.1038/gim.2017.7 ISSN 1530-0366	HS Genetics (clinical)
2017	Artigo em periódico	Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up Barth Anneliese L; De Magalhães Tatiana S P C; Reis Ana Beatriz R; De Oliveira Maria LUCIA; Scalco Fernanda B et al MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2017.05.010 ISSN 2214-4269	HS Medicine (miscellaneous)
2017	Artigo em periódico	Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels Donida BRUNA; Marchetti Desirèe P; Jacques Carlos Eduardo DIAZ; Ribas GRAZIELA; Deon MARION et al MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2017.04.005 ISSN 2214-4269	HS Genetics (clinical)
2017	Artigo em periódico	Epidemiology of mucopolysaccharidoses Khan Shaukat A; Peracha HIRA; Ballhausen DIANA; Wiesbauer ALFRED; Rohrbach MARIANNE et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2017.05.016 ISSN 1096-7192	HS Medicine (miscellaneous)
2017	Artigo em periódico	Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know? Dalla Corte AMAURI; De Souza Carolina F M; Anés MAURÍCIO; Roberto GIUGLIANI CHILDS NERVOUS SYSTEM DOI 10.1007/s00381-017-3476-0 ISSN 0256-7040	HS Medicine (miscellaneous)
2017	Artigo em periódico	Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa D HUGHES; Roberto GIUGLIANI; N GUFFON; Jones S A; Mengel K E et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-017-0634-0 ISSN 1750-1172	HS Medicine (miscellaneous)
2017	Artigo em periódico	Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) Bodamer OLAF; Scarpa MAURIZIO; Hung CHRISTINA; Pulles TOM; Roberto GIUGLIANI MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2017.02.004 ISSN 2214-4269	HS Genetics (clinical)
2017	Artigo em periódico	Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure Van Der Lee Johanna H; Morton JONATHAN; Adams Heather R; Clarke LORNE; Ebbink Berendine JOHANNE et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2017.05.004 ISSN 1096-7192	LS Genetics
2017	Artigo em periódico	Ten years of the Hunter Outcome Survey (HOS): insights; achievements; and lessons learned from a global patient registry Muenzer JOSEPH; Jones Simon A; Tylki Szyma Ska ANNA; Harmatz PAUL; Mendelsohn Nancy J et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-017-0635-z ISSN 1750-1172	HS Medicine (miscellaneous)
2017	Artigo em periódico	Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome Schrover RUDOLF; Evans KATHRYN; Roberto GIUGLIANI; Noble IAN; Bhattacharya KAUSTUV Orphanet Journal of Rare Diseases DOI 10.1186/s13023-017-0633-1 ISSN 1750-1172	HS Medicine (miscellaneous)
2017	Artigo em periódico	Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil Bravo HEYDY; Neto Eurico CAMARGO; Schulte JAQUELINE; Pereira JAMILE; Filho Claudio SAMPAIO et al MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2017.06.006 ISSN 2214-4269	HS Genetics (clinical)
2017	Artigo em periódico	Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II Kubaski FRANCYNE; Yabe HIROMASA; Suzuki YASUYUKI; Seto TOSHIYUKI; Hamazaki TAKASHI et al BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION DOI 10.1016/j.bbmt.2017.06.020 ISSN 1083-8791	HS Neurology (clinical)
2017	Artigo em periódico	Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity Shams SEDIGHEH; Barazandeh Tehrani MALIHEH; Gabriel CIVALLERO; Minookherad KOOSHA; Roberto GIUGLIANI et al Journal of Diabetes & Metabolic Disorders DOI 10.1186/s40200-017-0319-1 ISSN 2251-6581	LS Genetics
2017	Artigo em periódico	Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS) Muenzer JOSEPH; Roberto GIUGLIANI; Scarpa MAURIZIO; Tylki Szyma Ska ANNA; Jego VIRGINIE et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-017-0712-3 ISSN 1750-1172	HS Genetics (clinical)
2017	Artigo em periódico	Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis Hinderer CHRISTIAN; Katz NATHAN; Louboutin Jean PIERRE; Bell PETER; Tolar JAKUB et al HUMAN MOLECULAR GENETICS DOI 10.1093/hmg/ddx277 ISSN 0964-6906	HS Genetics (clinical)
2017	Artigo em periódico	APRESENTAÇÃO CLÍNICA INICIAL DOS CASOS DE ERROS INATOS DO METABOLISMO DE UM HOSPITAL PEDIÁTRICO DE REFERÊNCIA: AINDA UM DESAFIO DIAGNÓSTICO Romão ANDRESSA; Simon Priscila Endlich ALVES; Góes José Eduardo COUTINHO; Pinto Louise Lapagessede CAMARGO; Roberto GIUGLIANI et al REVISTA PAULISTA DE PEDIATRIA (IMPRESSO) DOI 10.1590/1984-0462/-2017-35-3-00012 ISSN 0103-0582	HS Pediatrics
2017	Artigo em periódico	Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots Ribas Graziela SCHMITT; De Mari Jurema FÁTIMA; Gabriel CIVALLERO; De Souza Heryk MOTTA; Maira Graeff BURIN et al JOURNAL OF INBORN ERRORS OF METABOLISM & SCREENING DOI 10.1177/2326409817692360 ISSN 2326-4098	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2017	Artigo em periódico	Introduction to the Newborn Screening; Diagnosis; and Treatment for Pompe Disease Guidance Supplement Priya S KISHNANI; Wuh Liang HWU; Roberto GIUGLIANI; Pompe Disease Newborn Screening Working Group Article INFO PEDIATRICS ISSN 0031-4005	HS Pediatrics; Perinatology and Child Health
2017	Artigo em periódico	Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses Corte Amauri DALLA; De Souza Carolina F M; Anés MAURÍCIO; Maeda Fabio K; Lokossou ARMELLE et al Fluids and Barriers of the CNS DOI 10.1186/s12987-017-0073-2 ISSN 2045-8118	HS Radiology; Nuclear Medicine and Imaging
2017	Artigo em periódico	Newborn Screening for Pompe Disease Bodamer Olaf A; Scott C RONALD; Roberto GIUGLIANI PEDIATRICS DOI 10.1542/peds.2016-0280C ISSN 0031-4005	HS Pediatrics; Perinatology and Child Health
2017	Artigo em periódico	Treatment of brain disease in the mucopolysaccharidoses Scarpa MAURIZIO; Orchard Paul J; Schulz ANGELA; Dickson Patricia I; Haskins Mark E et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2017.10.007 ISSN 1096-7192	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2017	Artigo em periódico	IMPORTÂNCIA DA BIÓPSIA HEPÁTICA NO DIAGNÓSTICO DA DEFICIÊNCIA DE LIPASE ÁCIDA LISOSSOMAL: RELATO DE CASO Tommaso Adriana Maria Alves DE; Barra Flávia Fonseca De CARVALHO; Hessel GABRIEL; Moreno Carolina ARAÚJO; Roberto GIUGLIANI et al REVISTA PAULISTA DE PEDIATRIA (IMPRESSO) DOI 10.1590/1984-0462/-2018-36-1-00016 ISSN 0103-0582	HS Medicine (miscellaneous)
2017	Artigo em periódico	Phase I and II clinical trials for the mucopolysaccharidoses Poswar FABIANO; Baldo GUILHERME; Roberto GIUGLIANI EXPERT OPINION ON INVESTIGATIONAL DRUGS DOI 10.1080/13543784.2017.1397130 ISSN 1354-3784	LS Pharmacology; Toxicology and Pharmaceutics (miscellaneous)

2017 Artigo em periódico

HS Medicine (miscellaneous)

Losartan improves aortic dilatation and cardiovascular disease in mucopolysaccharidosis I

JOURNAL OF INHERITED METABOLIC DISEASE

Gonzalez Esteban ALBERTO; Tavares Angela Maria VICENTE; Poletto EDINA; Roberto GIUGLIANI; Ursula MATTE et al

DOI ISSN 0141-8955

2017 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII

PRENATAL DIAGNOSIS

Kubaski FRANCYNE; Brusius Facchin Ana CAROLINA; Mason Robert W; Patel PRAVIN; Burin Maira G et al

DOI ISSN 0197-3851

2017 Artigo em periódico

HS Genetics (clinical)

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

Genetics in Medicine

Mcgovern Margaret M; Dionisi Vici CARLO; Roberto GIUGLIANI; Hwu PAUL; Lidove OLIVIER et al

DOI ISSN 1530-0366

2017 Artigo em periódico

HS Medicine (miscellaneous)

Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up

MOLECULAR GENETICS AND METABOLISM REPORTS

Barth Anneliese L; De Magalhães Tatiana S P C; Reis Ana Beatriz R; De Oliveira Maria LUCIA; Scalco Fernanda B et al

DOI ISSN 2214-4269

2017 Artigo em periódico

HS Genetics (clinical)

Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels

MOLECULAR GENETICS AND METABOLISM REPORTS

Donida BRUNA; Marchetti Desirèe P; Jacques Carlos Eduardo DIAZ; Ribas GRAZIELA; Deon MARION et al

DOI ISSN 2214-4269

2017 Artigo em periódico

HS Medicine (miscellaneous)

Epidemiology of mucopolysaccharidoses

MOLECULAR GENETICS AND METABOLISM

Khan Shaukat A; Peracha HIRA; Ballhausen DIANA; Wiesbauer ALFRED; Rohrbach MARIANNE et al

DOI ISSN 1096-7192

2017 Artigo em periódico

HS Medicine (miscellaneous)

Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know?

CHILDS NERVOUS SYSTEM

Dalla Corte AMAURI; De Souza Carolina F M; Anés MAURÍCIO; Roberto GIUGLIANI

DOI ISSN 0256-7040

2017 Artigo em periódico

HS Medicine (miscellaneous)

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa

Orphanet Journal of Rare Diseases

D HUGHES; Roberto GIUGLIANI; N GUFFON; Jones S A; Mengel K E et al

DOI ISSN 1750-1172

2017 Artigo em periódico

HS Genetics (clinical)

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

MOLECULAR GENETICS AND METABOLISM REPORTS

Bodamer OLAF; Scarpa MAURIZIO; Hung CHRISTINA; Pulles TOM; Roberto GIUGLIANI

DOI ISSN 2214-4269

2017 Artigo em periódico

LS Genetics

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure

MOLECULAR GENETICS AND METABOLISM

Van Der Lee Johanna H; Morton JONATHAN; Adams Heather R; Clarke LORNE; Ebbink Berendine JOHANNE et al

DOI ISSN 1096-7192

2017 Artigo em periódico

HS Medicine (miscellaneous)

Ten years of the Hunter Outcome Survey (HOS): insights; achievements; and lessons learned from a global patient registry

Orphanet Journal of Rare Diseases

Muenzer JOSEPH; Jones Simon A; Tylki Szyma Ska ANNA; Harmatz PAUL; Mendelsohn Nancy J et al

DOI ISSN 1750-1172

2017 Artigo em periódico

HS Medicine (miscellaneous)

Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome

Orphanet Journal of Rare Diseases

Schrover RUDOLF; Evans KATHRYN; Roberto GIUGLIANI; Noble IAN; Bhattacharya KAUSTUV

DOI ISSN 1750-1172

2017 Artigo em periódico

HS Genetics (clinical)

Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

MOLECULAR GENETICS AND METABOLISM REPORTS

Bravo HEYDY; Neto Eurico CAMARGO; Schulte JAQUELINE; Pereira JAMILE; Filho Claudio SAMPAIO et al

DOI ISSN 2214-4269

2017 Artigo em periódico

HS Neurology (clinical)

Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II

BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Kubaski FRANCYNE; Yabe HIROMASA; Suzuki YASUYUKI; Seto TOSHIYUKI; Hamazaki TAKASHI et al

DOI ISSN 1083-8791

2017 Artigo em periódico

LS Genetics

Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity

Journal of Diabetes & Metabolic Disorders

Shams SEDIGHEH; Barazandeh Tehrani MALIHEH; Gabriel CIVALLERO; Minookherad KOOSHA; Roberto GIUGLIANI et al

DOI ISSN 2251-6581

2017 Artigo em periódico

HS Genetics (clinical)

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)

Orphanet Journal of Rare Diseases

Muenzer JOSEPH; Roberto GIUGLIANI; Scarpa MAURIZIO; Tylki Szyma Ska ANNA; Jego VIRGINIE et al

DOI ISSN 1750-1172

2017 Artigo em periódico

HS Genetics (clinical)

Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis

HUMAN MOLECULAR GENETICS

Hinderer CHRISTIAN; Katz NATHAN; Louboutin Jean PIERRE; Bell PETER; Tolar JAKUB et al

DOI ISSN 0964-6906

2017 Artigo em periódico

HS Pediatrics

APRESENTAÇÃO CLÍNICA INICIAL DOS CASOS DE ERROS INATOS DO METABOLISMO DE UM HOSPITAL PEDIÁTRICO DE REFERÊNCIA: AINDA UM DESAFIO DIAGNÓSTICO

REVISTA PAULISTA DE PEDIATRIA (IMPRESSO)

Romão ANDRESSA; Simon Priscila Endlich ALVES; Góes José Eduardo COUTINHO; Pinto Louise Lapagessede CAMARGO; Roberto GIUGLIANI et al

DOI ISSN 0103-0582

2017 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots

JOURNAL OF INBORN ERRORS OF METABOLISM & SCREENING

Ribas Graziela SCHMITT; De Mari Jurema FÁTIMA; Gabriel CIVALLERO; De Souza Heryk MOTTA; Maira Graeff BURIN et al

DOI ISSN 2326-4098

2017 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Introduction to the Newborn Screening; Diagnosis; and Treatment for Pompe Disease Guidance Supplement

PEDIATRICS

Priya S KISHNANI; Wuh Liang HWU; Roberto GIUGLIANI; Pompe Disease Newborn Screening Working Group Article INFO

ISSN 0031-4005

2017 Artigo em periódico

HS Radiology; Nuclear Medicine and Imaging

Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses

Fluids and Barriers of the CNS

Corte Amauri DALLA; De Souza Carolina F M; Anés MAURÍCIO; Maeda Fabio K; Lokossou ARMELLE et al

DOI ISSN 2045-8118

2017 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Newborn Screening for Pompe Disease

PEDIATRICS

Bodamer Olaf A; Scott C RONALD; Roberto GIUGLIANI

DOI ISSN 0031-4005

2017 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Treatment of brain disease in the mucopolysaccharidoses

MOLECULAR GENETICS AND METABOLISM

Scarpa MAURIZIO; Orchard Paul J; Schulz ANGELA; Dickson Patricia I; Haskins Mark E et al

DOI ISSN 1096-7192

2017 Artigo em periódico

HS Medicine (miscellaneous)

IMPORTÂNCIA DA BIÓPSIA HEPÁTICA NO DIAGNÓSTICO DA DEFICIÊNCIA DE LIPASE ÁCIDA LISOSSOMAL: RELATO DE CASO

REVISTA PAULISTA DE PEDIATRIA (IMPRESSO)

Tommaso Adriana Maria Alves DE; Barra Flávia Fonseca De CARVALHO; Hessel GABRIEL; Moreno Carolina ARAÚJO; Roberto GIUGLIANI et al

DOI ISSN 0103-0582

2017 Artigo em periódico

LS Pharmacology; Toxicology and Pharmaceutics (miscellaneous)

Phase I and II clinical trials for the mucopolysaccharidoses

EXPERT OPINION ON INVESTIGATIONAL DRUGS

Poswar FABIANO; Baldo GUILHERME; Roberto GIUGLIANI

DOI ISSN 1354-3784