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
2022	Artigo em periódico	Gene editing strategies to treat lysosomal disorders: The example of mucopolysaccharidoses Fachel Flávia Nathiely SILVEIRA; Frâncio LARIANE; Poletto ÉDINA; Schuh Roselena SILVESTRI; Teixeira Helder FERREIRA et al ADVANCED DRUG DELIVERY REVIEWS DOI 10.1016/j.addr.2022.114616 ISSN 0169-409X	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2022	Artigo em periódico	Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events; including renal; cardiac and cerebrovascular outcomes Hughes Derralynn A; Bichet Daniel G; Roberto GIUGLIANI; Hopkin Robert J; Krusinska EVA et al JOURNAL OF MEDICAL GENETICS DOI 10.1136/jmg-2022-108669 ISSN 0022-2593	LS Genetics
2022	Artigo em periódico	Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results Diaz George A; Roberto GIUGLIANI; Guffon NATHALIE; Jones Simon A; Mengel EUGEN et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-022-02587-0 ISSN 1750-1172	HS Genetics (clinical)
2022	Artigo em periódico	Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America Roberto GIUGLIANI; Castillo Taucher SILVIA; Hafez SYLVIA; Oliveira Joao BOSCO; Rico Restrepo MARIANA et al Frontiers in Genetics DOI 10.3389/fgene.2022.1053559 ISSN 1664-8021	LS Genetics
2022	Artigo em periódico	Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency Kubaski FRANCYNE; Burlina ALBERTO; Pereira DANILO; Silva CAMILO; Herbst Zackary M et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-022-02560-x ISSN 1750-1172	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2022	Artigo em periódico	Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories Gelb Michael H; Basheeruddin KHAJA; Burlina ALBERTO; Chen Hsiao JAN; Chien Yin HSIU et al International Journal Of Neonatal Screening DOI 10.3390/ijns8040062 ISSN 2409-515X	LS Clinical Biochemistry
2022	Artigo em periódico	Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications for neonatal screening and diagnostic confirmation of lysosomal disorders Málaga Diana ROJAS; Kubaski FRANCYNE; Facchin Ana Carolina BRUSIUS; Roberto GIUGLIANI CLINICAL AND BIOMEDICAL RESEARCH DOI 10.22491/2357-9730.114246 ISSN 2357-9730	HS Medicine (miscellaneous)
2022	Artigo em periódico	Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C Kubaski FRANCYNE; Burlina ALBERTO; Polo GIULIA; Pereira DANILO; Herbst Zackary M et al International Journal Of Neonatal Screening DOI 10.3390/ijns8030039 ISSN 2409-515X	HS Pediatrics; Perinatology and Child Health
2021	Capítulo de livro	Resultados da genética médica: Mucopolissacaridose tipo VI (MPS VI) Costa Motta FM; Bender F; Sandra Leistner SEGAL; Roberto GIUGLIANI GENÉTICA NO SERTÃO; entre natureza e cultura ? uma abordagem interdisciplinar ISBN 9786556302133	HS Medicine (miscellaneous)
2021	Capítulo de livro	Triagem neonatal para MPS VI em populações selecionadas Fernanda BENDER; Costa Motta FABIANA; Roberto GIUGLIANI; Sandra Leistner SEGAL; Tatiana AMORIM In: GENÉTICA NO SERTÃO; entre natureza e cultura ? uma abordagem interdisciplinar ISBN 9786556302133	HS Medicine (miscellaneous)
2021	Capítulo de livro	Genome editing in lysosomal disorders Roberto GIUGLIANI; Poletto E; Gonzalez Esteban ALBERTO; Fabiano De Oliveira POSWAR; Giugliani R et al Genome editing in lysosomal disorders DOI 10.1016/bs.pmbts.2021.02.001 ISBN 9780323853	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2021	Artigo em periódico	Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome Josahkian Juliana ALVES; Brusius Facchin Ana CAROLINA; Netto Alice Brinckmann OLIVEIRA; Leistner Segal SANDRA; Málaga Diana ROJAS et al AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS DOI 10.1002/ajmg.c.31915 ISSN 1552-4868	HS Genetics (clinical)
2021	Artigo em periódico	Mucopolysaccharidosis VII in Brazil: natural history and clinical findings Roberto GIUGLIANI; Barth Anneliese LOPES; Dumas Melissa Rossi CALVÃO; Da Silva Franco José FRANCISCO; De Rosso Giuliani LIANE et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-021-01870-w ISSN 1750-1172	LS Genetics
2021	Artigo em periódico	Impact of COVID-19 on treatment and follow-up in patients with selected lysosomal diseases in a Brazilian center Schwartz Ida V D; Silva Thiago O; Fabiano De Oliveira POSWAR; Souza Carolina F M; Roberto GIUGLIANI MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2020.12.237 ISSN 1096-7192	HS Genetics (clinical)
2021	Artigo em periódico	Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross-sectional analysis Reichert ROBERTA; Pérez Juliano A; Dalla Corte AMAURI; Filippo Pinto E VAIRO; Souza Carolina F M et al JIMD REPORTS DOI 10.1002/jmd2.12212 ISSN 2192-8312	HS Genetics (clinical)
2021	Artigo em periódico	Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases Francyne KUBASKI; Zackary M HERBST; Danilo PEREIRA; Camilo SILVA; Christine CHEN et al MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2021.100744 ISSN 2214-4269	HS Genetics (clinical)
2021	Artigo em periódico	Demographic; clinical; and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region Santos Lopes Simone SILVA; Oliveira Jessica Maria FLORÊNCIO; Queiroga Nascimento DENISE; Montenegro Yorran Hardman ARAÚJO; Sandra Leistner SEGAL et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.62375 ISSN 1552-4825	HS Genetics (clinical)
2021	Artigo em periódico	Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions Josahkian Juliana ALVES; Trapp Franciele BARBOSA; Burin Maira GRAEFF; Michelin Tirelli KRISTIANE; Magalhães Ana Paula Pereira Scholz DE et al GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION) DOI 10.1590/1678-4685-gmb-2020-0138 ISSN 1678-4685	HS Genetics (clinical)
2021	Artigo em periódico	Gene Therapy of Mucopolysaccharidosis Type I Mice: Repeated Administrations and Safety Assessment of pIDUA/Nanoemulsion Complexes Michelle FRAGA; Schuh Roselena SILVESTRI; Poletto ÉDINA; De Carvalho Talita GIACOMET; França Raqueli TERESINHA et al CURRENT GENE THERAPY DOI 10.2174/1566523221666210126151420 ISSN 1566-5232	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2021	Artigo em periódico	Long-term follow-up of renal function in patients treated with migalastat for Fabry disease Bichet Daniel G; Torra ROSER; Wallace ERIC; Hughes DERRALYNN; Roberto GIUGLIANI et al MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2021.100786 ISSN 2214-4269	HS Medicine (miscellaneous)
2021	Artigo em periódico	Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry; Gaucher; and Hunter Outcome Survey registries Elstein DEBORAH; Roberto GIUGLIANI; Muenzer JOSEPH; Schenk JÖRN; Schwartz Ida V D et al MOLECULAR GENETICS AND METABOLISM REPORTS DOI 10.1016/j.ymgmr.2021.100788 ISSN 2214-4269	HS Genetics (clinical)
2021	Artigo em periódico	Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of gene variants and reporting of 68 novel variants Zanetti ALESSANDRA; D Avanzo FRANCESCA; Alsayed MOEENALDEEN; Brusius Facchin Ana CAROLINA; Chien Yin HSIU et al HUMAN MUTATION DOI 10.1002/humu.24270 ISSN 1059-7794	LS Genetics
2021	Artigo em periódico	Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art De Castro María JOSÉ; Del Toro MIREIA; Roberto GIUGLIANI; Couce María LUZ INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES DOI 10.3390/ijms22179200 ISSN 1422-0067	HS Radiology; Nuclear Medicine and Imaging
2021	Artigo em periódico	Clinical trials for genetic diseases in Latin America Poswar Fabiano De OLIVEIRA; Silva Larissa POZZEBON; Zambrano Marina BAUER; Pedrini Diane BRESSAN; Saute Jonas Alex MORALES et al AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS DOI 10.1002/ajmg.c.31934 ISSN 1552-4868	LS Genetics
2021	Artigo em periódico	Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB Montenegro Yorran Hardman ARAÚJO; Guilherme BALDO; Roberto GIUGLIANI; Poswar Fabiano De OLIVEIRA; Sobrinho Ruy Pires De OLIVEIRA et al PSYCHIATRIC GENETICS DOI 10.1097/ypg.0000000000000294 ISSN 0955-8829	HS Neurology (clinical)

2022 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Gene editing strategies to treat lysosomal disorders: The example of mucopolysaccharidoses

ADVANCED DRUG DELIVERY REVIEWS

Fachel Flávia Nathiely SILVEIRA; Frâncio LARIANE; Poletto ÉDINA; Schuh Roselena SILVESTRI; Teixeira Helder FERREIRA et al

DOI ISSN 0169-409X

2022 Artigo em periódico

LS Genetics

Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events; including renal; cardiac and cerebrovascular outcomes

JOURNAL OF MEDICAL GENETICS

Hughes Derralynn A; Bichet Daniel G; Roberto GIUGLIANI; Hopkin Robert J; Krusinska EVA et al

DOI ISSN 0022-2593

2022 Artigo em periódico

HS Genetics (clinical)

Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

Orphanet Journal of Rare Diseases

Diaz George A; Roberto GIUGLIANI; Guffon NATHALIE; Jones Simon A; Mengel EUGEN et al

DOI ISSN 1750-1172

2022 Artigo em periódico

LS Genetics

Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America

Frontiers in Genetics

Roberto GIUGLIANI; Castillo Taucher SILVIA; Hafez SYLVIA; Oliveira Joao BOSCO; Rico Restrepo MARIANA et al

DOI ISSN 1664-8021

2022 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency

Orphanet Journal of Rare Diseases

Kubaski FRANCYNE; Burlina ALBERTO; Pereira DANILO; Silva CAMILO; Herbst Zackary M et al

DOI ISSN 1750-1172

2022 Artigo em periódico

LS Clinical Biochemistry

Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories

International Journal Of Neonatal Screening

Gelb Michael H; Basheeruddin KHAJA; Burlina ALBERTO; Chen Hsiao JAN; Chien Yin HSIU et al

DOI ISSN 2409-515X

2022 Artigo em periódico

HS Medicine (miscellaneous)

Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications for neonatal screening and diagnostic confirmation of lysosomal disorders

CLINICAL AND BIOMEDICAL RESEARCH

Málaga Diana ROJAS; Kubaski FRANCYNE; Facchin Ana Carolina BRUSIUS; Roberto GIUGLIANI

DOI ISSN 2357-9730

2022 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C

International Journal Of Neonatal Screening

Kubaski FRANCYNE; Burlina ALBERTO; Polo GIULIA; Pereira DANILO; Herbst Zackary M et al

DOI ISSN 2409-515X

2021 Capítulo de livro

HS Medicine (miscellaneous)

Resultados da genética médica: Mucopolissacaridose tipo VI (MPS VI)

GENÉTICA NO SERTÃO; entre natureza e cultura ? uma abordagem interdisciplinar

Costa Motta FM; Bender F; Sandra Leistner SEGAL; Roberto GIUGLIANI

ISBN 9786556302133

2021 Capítulo de livro

HS Medicine (miscellaneous)

Triagem neonatal para MPS VI em populações selecionadas

In: GENÉTICA NO SERTÃO; entre natureza e cultura ? uma abordagem interdisciplinar

Fernanda BENDER; Costa Motta FABIANA; Roberto GIUGLIANI; Sandra Leistner SEGAL; Tatiana AMORIM

ISBN 9786556302133

2021 Capítulo de livro

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Genome editing in lysosomal disorders

Roberto GIUGLIANI; Poletto E; Gonzalez Esteban ALBERTO; Fabiano De Oliveira POSWAR; Giugliani R et al

DOI ISBN 9780323853

2021 Artigo em periódico

HS Genetics (clinical)

Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Josahkian Juliana ALVES; Brusius Facchin Ana CAROLINA; Netto Alice Brinckmann OLIVEIRA; Leistner Segal SANDRA; Málaga Diana ROJAS et al

DOI ISSN 1552-4868

2021 Artigo em periódico

LS Genetics

Mucopolysaccharidosis VII in Brazil: natural history and clinical findings

Orphanet Journal of Rare Diseases

Roberto GIUGLIANI; Barth Anneliese LOPES; Dumas Melissa Rossi CALVÃO; Da Silva Franco José FRANCISCO; De Rosso Giuliani LIANE et al

DOI ISSN 1750-1172

2021 Artigo em periódico

HS Genetics (clinical)

Impact of COVID-19 on treatment and follow-up in patients with selected lysosomal diseases in a Brazilian center

MOLECULAR GENETICS AND METABOLISM

Schwartz Ida V D; Silva Thiago O; Fabiano De Oliveira POSWAR; Souza Carolina F M; Roberto GIUGLIANI

DOI ISSN 1096-7192

2021 Artigo em periódico

HS Genetics (clinical)

Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross-sectional analysis

JIMD REPORTS

Reichert ROBERTA; Pérez Juliano A; Dalla Corte AMAURI; Filippo Pinto E VAIRO; Souza Carolina F M et al

DOI ISSN 2192-8312

2021 Artigo em periódico

HS Genetics (clinical)

Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases

MOLECULAR GENETICS AND METABOLISM REPORTS

Francyne KUBASKI; Zackary M HERBST; Danilo PEREIRA; Camilo SILVA; Christine CHEN et al

DOI ISSN 2214-4269

2021 Artigo em periódico

HS Genetics (clinical)

Demographic; clinical; and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Santos Lopes Simone SILVA; Oliveira Jessica Maria FLORÊNCIO; Queiroga Nascimento DENISE; Montenegro Yorran Hardman ARAÚJO; Sandra Leistner SEGAL et al

DOI ISSN 1552-4825

2021 Artigo em periódico

HS Genetics (clinical)

Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions

GENETICS AND MOLECULAR BIOLOGY (ONLINE VERSION)

Josahkian Juliana ALVES; Trapp Franciele BARBOSA; Burin Maira GRAEFF; Michelin Tirelli KRISTIANE; Magalhães Ana Paula Pereira Scholz DE et al

DOI ISSN 1678-4685

2021 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Gene Therapy of Mucopolysaccharidosis Type I Mice: Repeated Administrations and Safety Assessment of pIDUA/Nanoemulsion Complexes

CURRENT GENE THERAPY

Michelle FRAGA; Schuh Roselena SILVESTRI; Poletto ÉDINA; De Carvalho Talita GIACOMET; França Raqueli TERESINHA et al

DOI ISSN 1566-5232

2021 Artigo em periódico

HS Medicine (miscellaneous)

Long-term follow-up of renal function in patients treated with migalastat for Fabry disease

MOLECULAR GENETICS AND METABOLISM REPORTS

Bichet Daniel G; Torra ROSER; Wallace ERIC; Hughes DERRALYNN; Roberto GIUGLIANI et al

DOI ISSN 2214-4269

2021 Artigo em periódico

HS Genetics (clinical)

Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry; Gaucher; and Hunter Outcome Survey registries

MOLECULAR GENETICS AND METABOLISM REPORTS

Elstein DEBORAH; Roberto GIUGLIANI; Muenzer JOSEPH; Schenk JÖRN; Schwartz Ida V D et al

DOI ISSN 2214-4269

2021 Artigo em periódico

LS Genetics

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of gene variants and reporting of 68 novel variants

HUMAN MUTATION

Zanetti ALESSANDRA; D Avanzo FRANCESCA; Alsayed MOEENALDEEN; Brusius Facchin Ana CAROLINA; Chien Yin HSIU et al

DOI ISSN 1059-7794

2021 Artigo em periódico

HS Radiology; Nuclear Medicine and Imaging

Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

De Castro María JOSÉ; Del Toro MIREIA; Roberto GIUGLIANI; Couce María LUZ

DOI ISSN 1422-0067

2021 Artigo em periódico

LS Genetics

Clinical trials for genetic diseases in Latin America

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Poswar Fabiano De OLIVEIRA; Silva Larissa POZZEBON; Zambrano Marina BAUER; Pedrini Diane BRESSAN; Saute Jonas Alex MORALES et al

DOI ISSN 1552-4868

2021 Artigo em periódico

HS Neurology (clinical)

Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB

PSYCHIATRIC GENETICS

Montenegro Yorran Hardman ARAÚJO; Guilherme BALDO; Roberto GIUGLIANI; Poswar Fabiano De OLIVEIRA; Sobrinho Ruy Pires De OLIVEIRA et al

DOI ISSN 0955-8829