Dafne Dain Gandelman Horovitz

Dados pessoais

Lattes
Grupos de Pesquisa
Genealogia Acadêmica

Nacionalidade: Brasileira
Grande área de atuação: Ciências da Saúde
Área de atuação: Medicina

Publicações

Total: 306

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
Alexandra Prufer De Queiroz Campos ARAÚJO		Ciências da Saúde	Medicina
Cesar Gomes VICTORA		Ciências da Saúde	Medicina
Chong Ae KIM		Ciências da Saúde	Medicina
Decio BRUNONI		Ciências Biológicas	Genética
Juan Clinton Llerena JUNIOR		Ciências da Saúde	Medicina
Marcos Antonio Ferreira Do NASCIMENTO		Ciências da Saúde	Saúde Coletiva
Roberto GIUGLIANI	Membro	Ciências Biológicas	Genética

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 → 15

Mapa de calor das categorias ASJC por ano
Categoria ASJC	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)	0	0	2	2	0	7	1	1	0	1	1	0	2	3	2	11	8	3	5	3	0	3	1	7	2	3	2	0	1	2	4	0	1	2	0	0
2701 · Medicine (miscellaneous)	0	3	1	3	1	2	2	0	0	1	3	1	0	4	3	5	15	0	3	0	0	0	3	5	0	0	3	3	3	3	1	1	0	0	0	0
1311 · Genetics	0	3	0	4	3	4	0	0	2	1	0	0	1	1	3	3	2	0	2	0	3	2	0	1	0	0	1	1	2	1	2	1	2	0	1	0
2735 · Pediatrics; Perinatology and Child Health	0	1	0	1	1	6	1	0	0	0	0	0	1	0	1	0	2	0	1	0	1	0	1	0	0	1	1	0	1	1	0	0	0	1	0	0
3201 · Psychology (miscellaneous)	1	0	1	1	0	1	3	0	0	0	0	0	0	0	0	1	1	0	2	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0
2808 · Neurology	0	0	1	1	1	1	0	1	0	0	0	0	0	0	1	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2728 · Neurology (clinical)	0	2	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	1	0	0	1	0
2739 · Public Health; Environmental and Occupational Health	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	2	0	0	0	0	1	0	0
1301 · Biochemistry; Genetics and Molecular Biology (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	2	0	0	0	0	0	0	0	0	0	0	0	0
2700 · General Medicine	1	1	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	1	0	0	0	0	0	0
2712 · Endocrinology; Diabetes and Metabolism	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	3	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2801 · Neuroscience (miscellaneous)	0	0	0	1	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	1	0	0	0
2710 · Embryology	0	0	0	1	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	0	0	0	0	0
2713 · Epidemiology	0	0	0	1	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	1
3304 · Education	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	0	0	1	0	0	0	0	0	0	0
3601 · Health Professions (miscellaneous)	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1201 · Arts and Humanities (miscellaneous)	0	1	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
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	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0
2736 · Pharmacology (medical)	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
2738 · Psychiatry and Mental Health	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	1	0	0	0
1103 · Animal Science and Zoology	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	0
1303 · Biochemistry	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
1308 · Clinical Biochemistry	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
1309 · Developmental Biology	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
1312 · 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	1	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	0	0	0	0	0	1	0	0	0	0	0
1702 · Artificial Intelligence	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
1706 · Computer Science Applications	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
2001 · Economics; Econometrics and Finance (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	0
2405 · Parasitology	0	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
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	0	1	0	0	0	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	0	0	0	0	0	0	0	0	1	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	0	0	0	0	0	0	0	0	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	0	0	0	0	0	0	1	0	0	0	0	0
2806 · Developmental Neuroscience	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
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
3200 · General 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	1	0	0
3300 · General Social Sciences	0	0	0	0	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
3306 · Health (social science)	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

Ano	Tipo	Registro	Área temática e categoria ASJC
	Tipo de Publicação	Registro	Área temática e categoria ASJC
2026	Artigo em periódico	A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil Giugliani ROBERTO; Siqueira Ana Cecília Menezes DE; Martins Ana MARIA; Marcondes Bianca FERNANDES; Souza Carolina Fischinger Moura DE et al Journal of Clinical Medicine DOI 10.3390/jcm15020589 ISSN 2077-0383	HS Epidemiology
2025	Artigo em periódico	Clinical Characterization of Patients with Rare Diseases Who Had Covid-19 or Covid-19 Like Symptoms Ana Paula P S De MAGALHAES; Randon Dévora N; Thiago O SILVA; Natalya Gonçalves PEREIRA; Carolina Fishinger Moura De SOUZA et al Journal of Inborn Errors of Metabolism & Screening DOI 10.1590/2326-4594JIEMS-2024-0009 ISSN 2326-4594	HS Internal Medicine
2025	Artigo em periódico	Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant Zin Olivia A; Neves Luiza M; Motta Fabiana L; Junior Daltro C; Cunha Daniela P et al Genes DOI 10.3390/genes16010091 ISSN 2073-4425	LS Genetics
2025	Artigo em periódico	Practical recommendations for diagnosis; management; and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective Dafne Dain Gandelman HOROVITZ; Pessoa ANDRÉ; França Junior Marcondes CAVALCANTE; Giugliani ROBERTO; Souza Carolina Fischinger Moura DE et al ARQUIVOS DE NEURO-PSIQUIATRIA DOI 10.1055/s-0045-1807714 ISSN 0004-282X	HS Neurology (clinical)
2024	Artigo em periódico	Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients Gomes Maria EDUARDA; Kehdy FERNANDA; De Neves Manta Fernanda SALOUM; Dafne Dain Gandelman HOROVITZ; Sanseverino Maria TERESA et al Scientific Reports DOI 10.1038/s41598-024-64407-8 ISSN 2045-2322	HS Genetics (clinical)
2024	Artigo em periódico	The 22q11.2 Deletion Syndrome from A Biopsychosocial Perspective: A Series of Cases with an ICF-Based Approach Cabral Ana Paula CORRÊA; Dafne Dain Gandelman HOROVITZ; Santos Lidiane NOGUEIRA; Carvalho Amanda Oliveira DE; Wigg Cristina Maria DUARTE et al Children-Basel DOI 10.3390/children11070767 ISSN 2227-9067	SH General Psychology
2024	Artigo em periódico	The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis Neves Luiza M; Pinto MÁRCIA; Zin Olivia A; Cunha Daniela P; Agonigi Bruna N S et al JOURNAL OF COMMUNITY GENETICS DOI 10.1007/s12687-024-00708-9 ISSN 1868-6001	SH Economics; Econometrics and Finance (miscellaneous)
2024	Artigo em periódico	Medical Genetics in Brazil in the 21st Century: A Thriving Specialty and Its Incorporation in Public Health Policies Dafne Dain Gandelman HOROVITZ; Félix Têmis MARIA; Ferraz Victor Evangelista De FARIA Genes DOI 10.3390/genes15080973 ISSN 2073-4425	HS Genetics (clinical)
2024	Artigo em periódico	Building a National Policy for Rare Disease in Brazil Félix Têmis MARIA; Oliveira Bibiana Mello DE; Dafne Dain Gandelman HOROVITZ JOURNAL OF COMMUNITY GENETICS DOI 10.1007/s12687-024-00732-9 ISSN 1868-6001	HS Public Health; Environmental and Occupational Health
2024	Artigo em periódico	Living with alveolar capillary dysplasia with misalignment of the pulmonary veins-case report Cohen Renata Wrobel FOLESCU; Sztajnbok FLAVIO; De Marca Evanice LIMA; Capelozzi Vera LUIZA; Dafne Dain Gandelman HOROVITZ et al PEDIATRIC PULMONOLOGY DOI 10.1002/ppul.27339 ISSN 8755-6863	HS Pediatrics; Perinatology and Child Health
2023	Artigo em periódico	Transition to home infusion in Pompe disease in Brazil: Safety of the regimen during the COVID-19 pandemic and thereafter Dafne Dain Gandelman HOROVITZ; Barth Anneliese L; Alves Welton C; Llerena Juan C MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2022.107153 ISSN 1096-7192	HS Psychiatry and Mental Health
2023	Artigo em periódico	Challenges and hurdles to cope with Pompe disease in the Brazilian Unified Health System (SUS) frame: Lessons learned from a series of 19 patients from a national Rare Disease Reference Center in the state of Rio de Janeiro; Brazil Llerena JUAN; Sixel BRUNA; Thomazinho PAULA; Salviano LUANDA; Scalco FERNANDA et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2022.107211 ISSN 1096-7192	LS Genetics
2023	Artigo em periódico	Neurological Phenotypes of Gene Variants: A Report of Four Novel Variants Dafne Dain Gandelman HOROVITZ; De Faria Domingues De Lima Maria ANGELICA; Pires Lais De CARVALHO; Campos Araujo Abelardo De QUEIROZ; Vargas Fernando REGLA Journal of Central Nervous System Disease DOI 10.1177/11795735231181467 ISSN 1179-5735	LS Neuroscience (miscellaneous)
2023	Artigo em periódico	Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families Zin Olivia A; Neves Luiza M; Cunha Daniela P; Motta Fabiana L; Agonigi Bruna N S et al INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES DOI 10.3390/ijms241511876 ISSN 1422-0067	LS Genetics
2023	Artigo em periódico	Clinical Profile Among Brazilian Mucopolysaccharidosis type II Patients: Subgroup Analysis from the Hunter Outcome Survey Dafne Dain Gandelman HOROVITZ; Ribeiro Márcia G; Acosta Angelina X; Monteiro Ana C; Botha JACO et al Journal of Inborn Errors of Metabolism and Screening DOI 10.1590/2326-4594-jiems-2023-0002 ISSN 2326-4594	HS Genetics (clinical)
2022	Artigo em periódico	Síndrome de Cornelia de Lange: análise de uma série de 33 pacientes em um centro de referência Larangeira Gustavo Henrique TORRACA; Souza Laila Maria Silveira Gallo DE; Almeida Julia Valeriano DE; Moraes Yuri Costa De ARAUJO; Correia Patricia SANTANA et al CLINICAL AND BIOMEDICAL RESEARCH DOI 10.22491/2357-9730.117215 ISSN 2357-9730	HS Medicine (miscellaneous)
2022	Artigo em periódico	Cannabidiol Successful Therapy for Developmental and Epileptic Encephalopathy Related to CYFIP2 De Góes Fernanda VEIGA; De Andrade Ramos Jessyca Thays MELO; Da Silva Fontana ROSIANE; De Carvalho Serão Cassio LUIZ; Kok FERNANDO et al THE OPEN NEUROLOGY JOURNAL DOI 10.2174/1874205X-v16-e2203290 ISSN 1874-205X	LS Genetics
2022	Artigo em periódico	Spinal cord occupation ratio (SCOR) and its application in the diagnosis of cervical spinal cord compression in Mucopolysaccharidoses Almeida Julia Valeriano DE; Barth Anneliese LOPES; Costa Alessandra Augusta Penna E; Dafne Dain Gandelman HOROVITZ Journal of Inborn Errors of Metabolism and Screening DOI 10.1590/2326-4594-jiems-2022-0003 ISSN 2326-4594	HS Neurology (clinical)
2021	Artigo em periódico	Enzyme replacement therapy interruption in mucopolysaccharidosis type patients and its impact in different clinical outcomes Politei JUAN; Porras Hurtado Gloria LILIANA; Guelbert NORBERTO; Fainboim ALEJANDRO; Dafne Dain Gandelman HOROVITZ et al JIMD REPORTS DOI 10.1002/jmd2.12192 ISSN 2192-8312	HS Genetics (clinical)
2021	Artigo em periódico	-2 pandemic in the Brazilian community of rare diseases: A patient reported survey Schwartz Ida Vanessa DOEDERLEIN; Randon Dévora NATALIA; Monsores NATAN; Moura De Souza Carolina FISCHINGER; Dafne Dain Gandelman HOROVITZ et al American Journal of Medical Genetics Part C: Seminars in Medical Genetics DOI 10.1002/ajmg.c.31883 ISSN 1552-4876	HS Genetics (clinical)
2021	Artigo em periódico	Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study Dafne Dain Gandelman HOROVITZ; Leão Emília K E A; Ribeiro Erlane M; Martins Ana M; Barth Anneliese L et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2021.02.006 ISSN 1096-7192	LS Molecular Medicine
2021	Artigo em periódico	Need leads to change: Transition to home infusion in Pompe disease in Brazil in the COVID-19 pandemic Dafne Dain Gandelman HOROVITZ; Barth Anneliese LOPES; Alves Welton CORREIA; Llerena Juan CLINTON MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2020.12.107 ISSN 1096-7192	HS Medicine (miscellaneous)
2021	Artigo em periódico	COVID-19 pandemic impact on Brazilian patients with lysosomal diseases: A patient's perspective Schwartz Ida V D; Randon Dévora N; Ferraro Lethicia C; De Souza Carolina F M; Dafne Dain Gandelman HOROVITZ et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2020.12.236 ISSN 1096-7192	HS Genetics (clinical)
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 Giugliani ROBERTO; 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

2026 Artigo em periódico

HS Epidemiology

A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil

Journal of Clinical Medicine

Giugliani ROBERTO; Siqueira Ana Cecília Menezes DE; Martins Ana MARIA; Marcondes Bianca FERNANDES; Souza Carolina Fischinger Moura DE et al

DOI ISSN 2077-0383

2025 Artigo em periódico

HS Internal Medicine

Clinical Characterization of Patients with Rare Diseases Who Had Covid-19 or Covid-19 Like Symptoms

Journal of Inborn Errors of Metabolism & Screening

Ana Paula P S De MAGALHAES; Randon Dévora N; Thiago O SILVA; Natalya Gonçalves PEREIRA; Carolina Fishinger Moura De SOUZA et al

DOI ISSN 2326-4594

2025 Artigo em periódico

LS Genetics

Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant

Genes

Zin Olivia A; Neves Luiza M; Motta Fabiana L; Junior Daltro C; Cunha Daniela P et al

DOI ISSN 2073-4425

2025 Artigo em periódico

HS Neurology (clinical)

Practical recommendations for diagnosis; management; and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective

ARQUIVOS DE NEURO-PSIQUIATRIA

Dafne Dain Gandelman HOROVITZ; Pessoa ANDRÉ; França Junior Marcondes CAVALCANTE; Giugliani ROBERTO; Souza Carolina Fischinger Moura DE et al

DOI ISSN 0004-282X

2024 Artigo em periódico

HS Genetics (clinical)

Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients

Scientific Reports

Gomes Maria EDUARDA; Kehdy FERNANDA; De Neves Manta Fernanda SALOUM; Dafne Dain Gandelman HOROVITZ; Sanseverino Maria TERESA et al

DOI ISSN 2045-2322

2024 Artigo em periódico

SH General Psychology

The 22q11.2 Deletion Syndrome from A Biopsychosocial Perspective: A Series of Cases with an ICF-Based Approach

Children-Basel

Cabral Ana Paula CORRÊA; Dafne Dain Gandelman HOROVITZ; Santos Lidiane NOGUEIRA; Carvalho Amanda Oliveira DE; Wigg Cristina Maria DUARTE et al

DOI ISSN 2227-9067

2024 Artigo em periódico

SH Economics; Econometrics and Finance (miscellaneous)

The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis

JOURNAL OF COMMUNITY GENETICS

Neves Luiza M; Pinto MÁRCIA; Zin Olivia A; Cunha Daniela P; Agonigi Bruna N S et al

DOI ISSN 1868-6001

2024 Artigo em periódico

HS Genetics (clinical)

Medical Genetics in Brazil in the 21st Century: A Thriving Specialty and Its Incorporation in Public Health Policies

Genes

Dafne Dain Gandelman HOROVITZ; Félix Têmis MARIA; Ferraz Victor Evangelista De FARIA

DOI ISSN 2073-4425

2024 Artigo em periódico

HS Public Health; Environmental and Occupational Health

Building a National Policy for Rare Disease in Brazil

JOURNAL OF COMMUNITY GENETICS

Félix Têmis MARIA; Oliveira Bibiana Mello DE; Dafne Dain Gandelman HOROVITZ

DOI ISSN 1868-6001

2024 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Living with alveolar capillary dysplasia with misalignment of the pulmonary veins-case report

PEDIATRIC PULMONOLOGY

Cohen Renata Wrobel FOLESCU; Sztajnbok FLAVIO; De Marca Evanice LIMA; Capelozzi Vera LUIZA; Dafne Dain Gandelman HOROVITZ et al

DOI ISSN 8755-6863

2023 Artigo em periódico

HS Psychiatry and Mental Health

Transition to home infusion in Pompe disease in Brazil: Safety of the regimen during the COVID-19 pandemic and thereafter

MOLECULAR GENETICS AND METABOLISM

Dafne Dain Gandelman HOROVITZ; Barth Anneliese L; Alves Welton C; Llerena Juan C

DOI ISSN 1096-7192

2023 Artigo em periódico

LS Genetics

Challenges and hurdles to cope with Pompe disease in the Brazilian Unified Health System (SUS) frame: Lessons learned from a series of 19 patients from a national Rare Disease Reference Center in the state of Rio de Janeiro; Brazil

MOLECULAR GENETICS AND METABOLISM

Llerena JUAN; Sixel BRUNA; Thomazinho PAULA; Salviano LUANDA; Scalco FERNANDA et al

DOI ISSN 1096-7192

2023 Artigo em periódico

LS Neuroscience (miscellaneous)

Neurological Phenotypes of Gene Variants: A Report of Four Novel Variants

Journal of Central Nervous System Disease

Dafne Dain Gandelman HOROVITZ; De Faria Domingues De Lima Maria ANGELICA; Pires Lais De CARVALHO; Campos Araujo Abelardo De QUEIROZ; Vargas Fernando REGLA

DOI ISSN 1179-5735

2023 Artigo em periódico

LS Genetics

Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Zin Olivia A; Neves Luiza M; Cunha Daniela P; Motta Fabiana L; Agonigi Bruna N S et al

DOI ISSN 1422-0067

2023 Artigo em periódico

HS Genetics (clinical)

Clinical Profile Among Brazilian Mucopolysaccharidosis type II Patients: Subgroup Analysis from the Hunter Outcome Survey

Journal of Inborn Errors of Metabolism and Screening

Dafne Dain Gandelman HOROVITZ; Ribeiro Márcia G; Acosta Angelina X; Monteiro Ana C; Botha JACO et al

DOI ISSN 2326-4594

2022 Artigo em periódico

HS Medicine (miscellaneous)

Síndrome de Cornelia de Lange: análise de uma série de 33 pacientes em um centro de referência

CLINICAL AND BIOMEDICAL RESEARCH

Larangeira Gustavo Henrique TORRACA; Souza Laila Maria Silveira Gallo DE; Almeida Julia Valeriano DE; Moraes Yuri Costa De ARAUJO; Correia Patricia SANTANA et al

DOI ISSN 2357-9730

2022 Artigo em periódico

LS Genetics

Cannabidiol Successful Therapy for Developmental and Epileptic Encephalopathy Related to CYFIP2

THE OPEN NEUROLOGY JOURNAL

De Góes Fernanda VEIGA; De Andrade Ramos Jessyca Thays MELO; Da Silva Fontana ROSIANE; De Carvalho Serão Cassio LUIZ; Kok FERNANDO et al

DOI ISSN 1874-205X

2022 Artigo em periódico

HS Neurology (clinical)

Spinal cord occupation ratio (SCOR) and its application in the diagnosis of cervical spinal cord compression in Mucopolysaccharidoses

Journal of Inborn Errors of Metabolism and Screening

Almeida Julia Valeriano DE; Barth Anneliese LOPES; Costa Alessandra Augusta Penna E; Dafne Dain Gandelman HOROVITZ

DOI ISSN 2326-4594

2021 Artigo em periódico

HS Genetics (clinical)

Enzyme replacement therapy interruption in mucopolysaccharidosis type patients and its impact in different clinical outcomes

JIMD REPORTS

Politei JUAN; Porras Hurtado Gloria LILIANA; Guelbert NORBERTO; Fainboim ALEJANDRO; Dafne Dain Gandelman HOROVITZ et al

DOI ISSN 2192-8312

2021 Artigo em periódico

HS Genetics (clinical)

-2 pandemic in the Brazilian community of rare diseases: A patient reported survey

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Schwartz Ida Vanessa DOEDERLEIN; Randon Dévora NATALIA; Monsores NATAN; Moura De Souza Carolina FISCHINGER; Dafne Dain Gandelman HOROVITZ et al

DOI ISSN 1552-4876

2021 Artigo em periódico

LS Molecular Medicine

Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study

MOLECULAR GENETICS AND METABOLISM

Dafne Dain Gandelman HOROVITZ; Leão Emília K E A; Ribeiro Erlane M; Martins Ana M; Barth Anneliese L et al

DOI ISSN 1096-7192

2021 Artigo em periódico

HS Medicine (miscellaneous)

Need leads to change: Transition to home infusion in Pompe disease in Brazil in the COVID-19 pandemic

MOLECULAR GENETICS AND METABOLISM

Dafne Dain Gandelman HOROVITZ; Barth Anneliese LOPES; Alves Welton CORREIA; Llerena Juan CLINTON

DOI ISSN 1096-7192

2021 Artigo em periódico

HS Genetics (clinical)

COVID-19 pandemic impact on Brazilian patients with lysosomal diseases: A patient's perspective

MOLECULAR GENETICS AND METABOLISM

Schwartz Ida V D; Randon Dévora N; Ferraro Lethicia C; De Souza Carolina F M; Dafne Dain Gandelman HOROVITZ et al

DOI ISSN 1096-7192

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

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

DOI ISSN 1750-1172