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
2018	Artigo em periódico	Oral and craniofacial manifestations in a Hunter syndrome patient with hematopoietic stem cell transplantation: A case report Torres Rafaela De OLIVEIRA; Pintor Andréa Vaz BRAGA; Guedes Fábio RIBEIRO; Freitas Fernandes Liana BASTOS; Barth Anneliese LOPES et al SPECIAL CARE IN DENTISTRY DOI 10.1111/scd.12260 ISSN 0275-1879	HS Medicine (miscellaneous)
2018	Artigo em periódico	Novel and Recurrent Mutations in the FGFR3 </i></b> Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia Gomes Maria E S; Kanazawa Thatiane Y; Riba Fernanda R; Pereira Natálya G; Zuma Maria C C et al MOLECULAR SYNDROMOLOGY DOI 10.1159/000486697 ISSN 1661-8769	LS Genetics
2018	Artigo em periódico	Quando ser raro se torna um valor: o ativismo político por direitos das pessoas com doenças raras no Sistema Único de Saúde Moreira Martha Cristina NUNES; Nascimento Marcos Antonio Ferreira DO; Dafne Dain Gandelman HOROVITZ; Martins Antilia JANUARIA; Pinto MARCIA CADERNOS DE SAÚDE PÚBLICA DOI 10.1590/0102-311x00058017 ISSN 1678-4464	HS Health Policy
2018	Artigo em periódico	Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II Barth Anneliese L; Dafne Dain Gandelman HOROVITZ JOURNAL OF INBORN ERRORS OF METABOLISM & SCREENING DOI 10.1177/2326409818779097 ISSN 2326-4098	HS Cardiology and Cardiovascular Medicine
2018	Artigo em periódico	Intrathecal/Intracerebroventricular enzyme replacement therapy for the mucopolysaccharidoses: efficacy; safety; and prospects Giugliani ROBERTO; Dalla Corte AMAURI; Poswar FABIANO; Vanzella CLÁUDIA; Dafne Dain Gandelman HOROVITZ et al Expert Opinion on Orphan Drugs DOI 10.1080/21678707.2018.1487838 ISSN 2167-8707	HS Medicine (miscellaneous)
2018	Artigo em periódico	Redes de tratamento e as associações de pacientes com doenças raras Lima Maria Angelica De Faria Domingues DE; Gilbert Ana Cristina BOHRER; Dafne Dain Gandelman HOROVITZ Ciencia & Saude Coletiva DOI 10.1590/1413-812320182310.14762018 ISSN 1413-8123	HS Medicine (miscellaneous)
2017	Artigo em periódico	Motor Development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement Therapy De Almeida Thomazinho PAULA; Scalco Fernanda BERTÃO; De Oliveira Maria Lúcia COSTA; Dafne Dain Gandelman HOROVITZ; Llerena Juan CLINTON Open journal of clinical diagnostics. DOI 10.4236/ojcd.2017.71002 ISSN 2162-5816	HS Pediatrics; Perinatology and Child Health
2017	Artigo em periódico	The phenotypic spectrum of congenital Zika syndrome Del Campo MIGUEL; Feitosa Ian M L; Ribeiro Erlane M; Dafne Dain Gandelman HOROVITZ; Pessoa André L S et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.38170 ISSN 1552-4825	HS Genetics (clinical)
2017	Artigo em periódico	Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies Acuna Hidalgo ROCIO; Deriziotis PELAGIA; Steehouwer MARLOES; Gilissen CHRISTIAN; Graham Sarah A et al PLoS Genetics DOI 10.1371/journal.pgen.1006683 ISSN 1553-7404	LS Genetics
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	Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies Masnada SILVIA; Hedrich Ulrike B S; Gardella ELENA; Schubert JULIAN; Kaiwar CHARU et al Brain DOI 10.1093/brain/awx184 ISSN 1460-2156	HS Neurology (clinical)
2017	Artigo em periódico	GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms Ludwig Nataniel FLORIANO; Velho Renata VOLTOLINI; Sperb Ludwig FERNANDA; Acosta Angelina XAVIER; Ribeiro Erlane MARQUES et al INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY DOI 10.1016/j.biocel.2017.09.006 ISSN 1357-2725	HS Genetics (clinical)
2017	Artigo em periódico	Practical management of behavioral problems in mucopolysaccharidoses disorders Escolar Maria L; Jones Simon A; Shapiro Elsa G; Dafne Dain Gandelman HOROVITZ; Lampe CHRISTINA et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2017.09.010 ISSN 1096-7192	HS Medicine (miscellaneous)
2017	Artigo em periódico	Respiratory manifestation in late-onset Pompe disease: a case series conducted in Brazil Bruna De Souza SIXEL; Luanda Dias Da SILVA; Nicolette CAVALCANTI; Glória Maria Cardoso De Andrade PENQUE; Sandra LISBOA et al Jornal Brasileiro de Pneumologia ISSN 1806-3713	HS Medicine (miscellaneous)
2016	Artigo em periódico	Possible Association Between Zika Virus Infection and Microcephaly - Brazil; 2015 Schuler Faccini LAVINIA; Ribeiro Erlane M; Feitosa Ian M L; Dafne Dain Gandelman HOROVITZ; Cavalcanti Denise P et al Morbidity and Mortality Weekly Report (Print) DOI 10.15585/mmwr.mm6503e2er ISSN 0149-2195	LS Parasitology
2016	Artigo em periódico	Disease duration and survival in Brazilian Niemann-Pick disease type C patients: Preliminary data on potential impact of miglustat Giugliani LUCIANA; Van Der Linder VANESA; Van Der Linden HELIO; Lourenço Charles MARQUES; De Araújo Leão Emília Katiane EMBIRUÇU et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2015.12.271 ISSN 1096-7192	HS Genetics (clinical)
2016	Artigo em periódico	Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational; retrospective; chart review case series Dafne Dain Gandelman HOROVITZ; Acosta Angelina X; Giugliani ROBERTO; Hlavatá ANNA; Hlavatá KATARÍNA et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-016-0437-8 ISSN 1750-1172	HS Genetics (clinical)
2016	Artigo em periódico	Cranial bone collapse in microcephalic infants prenatally exposed to Zika virus infection Dafne Dain Gandelman HOROVITZ; Da Silva Pone Marcos VINICIUS; Moura Pone SHEILA; Dias Saad Salles Tania REGINA; Bastos Boechat Marcia CRISTINA Neurology (Cleveland; Ohio) DOI 10.1212/WNL.0000000000002814 ISSN 0028-3878	HS Pediatrics; Perinatology and Child Health
2016	Artigo em periódico	Zika Virus Infection in Pregnant Women in Rio de Janeiro Brasil PATRÍCIA; Pereira José P; Moreira M ELISABETH; Ribeiro Nogueira Rita M; Damasceno LUANA et al NEW ENGLAND JOURNAL OF MEDICINE (ONLINE) DOI 10.1056/NEJMoa1602412 ISSN 1533-4406	HS Infectious Diseases
2016	Artigo em periódico	ALG6-CDG: a recognizable phenotype with epilepsy; proximal muscle weakness; ataxia and behavioral and limb anomalies Morava EVA; Tiemes VERA; Tiel CHRISTIAN; Seta NATHALIE; De Lonlay PASCALE et al Journal of Inherited Metabolic Disease DOI 10.1007/s10545-016-9945-x ISSN 0141-8955	HS Genetics (clinical)
2015	Artigo em periódico	NUDT21</i> -spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation Gennarino Vincenzo A; Alcott Callison E; Chen Chun AN; Chaudhury ARINDAM; Gillentine Madelyn A et al eLife DOI 10.7554/elife.10782 ISSN 2050-084X	LS Neuroscience (miscellaneous)
2015	Artigo em periódico	Body Composition of Individuals with Mucopolysaccharidosis Cristiano De Abreu MARCELINO; Camila Rodrigues De OLIVEIRA; Cristina B GELLETE; Dafne Dain Gandelman HOROVITZ; Raquel BOY et al International Journal of Endocrinology and Metabolic Disorders ISSN 2380-548X	HS Genetics (clinical)
2015	Artigo em periódico	Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children Dafne Dain Gandelman HOROVITZ; Acosta Angelina XAVIER; De Rosso Giuliani LIANE; Ribeiro Erlane MARQUES Molecular Genetics and Metabolism Reports DOI 10.1016/j.ymgmr.2015.09.002 ISSN 2214-4269	HS Genetics (clinical)
2014	Capítulo de livro	Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age Lampe CHRISTINA; Atherton ANDREA; Burton Barbara K; Descartes MARIA; Giugliani ROBERTO et al JIMD Reports DOI 10.1007/8904_2013_289 ISBN 1111111111111	HS Medicine (miscellaneous)
2014	Artigo em periódico	Contradições das políticas públicas voltadas para doenças raras: o exemplo do programa de tratamento da Osteogenese Imperfeita no SUS. Maria Angelica F D LIMA; Dafne Dain Gandelman HOROVITZ Ciência e Saúde Coletiva (Impresso) DOI 10.1590/1413-81232014192.15582012 ISSN 1413-8123	HS Medicine (miscellaneous)

2018 Artigo em periódico

HS Medicine (miscellaneous)

Oral and craniofacial manifestations in a Hunter syndrome patient with hematopoietic stem cell transplantation: A case report

SPECIAL CARE IN DENTISTRY

Torres Rafaela De OLIVEIRA; Pintor Andréa Vaz BRAGA; Guedes Fábio RIBEIRO; Freitas Fernandes Liana BASTOS; Barth Anneliese LOPES et al

DOI ISSN 0275-1879

2018 Artigo em periódico

LS Genetics

Novel and Recurrent Mutations in the FGFR3 </i></b> Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia

MOLECULAR SYNDROMOLOGY

Gomes Maria E S; Kanazawa Thatiane Y; Riba Fernanda R; Pereira Natálya G; Zuma Maria C C et al

DOI ISSN 1661-8769

2018 Artigo em periódico

HS Health Policy

Quando ser raro se torna um valor: o ativismo político por direitos das pessoas com doenças raras no Sistema Único de Saúde

CADERNOS DE SAÚDE PÚBLICA

Moreira Martha Cristina NUNES; Nascimento Marcos Antonio Ferreira DO; Dafne Dain Gandelman HOROVITZ; Martins Antilia JANUARIA; Pinto MARCIA

DOI ISSN 1678-4464

2018 Artigo em periódico

HS Cardiology and Cardiovascular Medicine

Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II

JOURNAL OF INBORN ERRORS OF METABOLISM & SCREENING

Barth Anneliese L; Dafne Dain Gandelman HOROVITZ

DOI ISSN 2326-4098

2018 Artigo em periódico

HS Medicine (miscellaneous)

Intrathecal/Intracerebroventricular enzyme replacement therapy for the mucopolysaccharidoses: efficacy; safety; and prospects

Expert Opinion on Orphan Drugs

Giugliani ROBERTO; Dalla Corte AMAURI; Poswar FABIANO; Vanzella CLÁUDIA; Dafne Dain Gandelman HOROVITZ et al

DOI ISSN 2167-8707

2018 Artigo em periódico

HS Medicine (miscellaneous)

Redes de tratamento e as associações de pacientes com doenças raras

Ciencia & Saude Coletiva

Lima Maria Angelica De Faria Domingues DE; Gilbert Ana Cristina BOHRER; Dafne Dain Gandelman HOROVITZ

DOI ISSN 1413-8123

2017 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Motor Development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement Therapy

Open journal of clinical diagnostics.

De Almeida Thomazinho PAULA; Scalco Fernanda BERTÃO; De Oliveira Maria Lúcia COSTA; Dafne Dain Gandelman HOROVITZ; Llerena Juan CLINTON

DOI ISSN 2162-5816

2017 Artigo em periódico

HS Genetics (clinical)

The phenotypic spectrum of congenital Zika syndrome

American Journal of Medical Genetics. Part A

Del Campo MIGUEL; Feitosa Ian M L; Ribeiro Erlane M; Dafne Dain Gandelman HOROVITZ; Pessoa André L S et al

DOI ISSN 1552-4825

2017 Artigo em periódico

LS Genetics

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

PLoS Genetics

Acuna Hidalgo ROCIO; Deriziotis PELAGIA; Steehouwer MARLOES; Gilissen CHRISTIAN; Graham Sarah A et al

DOI ISSN 1553-7404

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 Neurology (clinical)

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies

Brain

Masnada SILVIA; Hedrich Ulrike B S; Gardella ELENA; Schubert JULIAN; Kaiwar CHARU et al

DOI ISSN 1460-2156

2017 Artigo em periódico

HS Genetics (clinical)

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms

INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Ludwig Nataniel FLORIANO; Velho Renata VOLTOLINI; Sperb Ludwig FERNANDA; Acosta Angelina XAVIER; Ribeiro Erlane MARQUES et al

DOI ISSN 1357-2725

2017 Artigo em periódico

HS Medicine (miscellaneous)

Practical management of behavioral problems in mucopolysaccharidoses disorders

MOLECULAR GENETICS AND METABOLISM

Escolar Maria L; Jones Simon A; Shapiro Elsa G; Dafne Dain Gandelman HOROVITZ; Lampe CHRISTINA et al

DOI ISSN 1096-7192

2017 Artigo em periódico

HS Medicine (miscellaneous)

Respiratory manifestation in late-onset Pompe disease: a case series conducted in Brazil

Jornal Brasileiro de Pneumologia

Bruna De Souza SIXEL; Luanda Dias Da SILVA; Nicolette CAVALCANTI; Glória Maria Cardoso De Andrade PENQUE; Sandra LISBOA et al

ISSN 1806-3713

2016 Artigo em periódico

LS Parasitology

Possible Association Between Zika Virus Infection and Microcephaly - Brazil; 2015

Morbidity and Mortality Weekly Report (Print)

Schuler Faccini LAVINIA; Ribeiro Erlane M; Feitosa Ian M L; Dafne Dain Gandelman HOROVITZ; Cavalcanti Denise P et al

DOI ISSN 0149-2195

2016 Artigo em periódico

HS Genetics (clinical)

Disease duration and survival in Brazilian Niemann-Pick disease type C patients: Preliminary data on potential impact of miglustat

Molecular Genetics and Metabolism (Print)

Giugliani LUCIANA; Van Der Linder VANESA; Van Der Linden HELIO; Lourenço Charles MARQUES; De Araújo Leão Emília Katiane EMBIRUÇU et al

DOI ISSN 1096-7192

2016 Artigo em periódico

HS Genetics (clinical)

Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational; retrospective; chart review case series

Orphanet Journal of Rare Diseases

Dafne Dain Gandelman HOROVITZ; Acosta Angelina X; Giugliani ROBERTO; Hlavatá ANNA; Hlavatá KATARÍNA et al

DOI ISSN 1750-1172

2016 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Cranial bone collapse in microcephalic infants prenatally exposed to Zika virus infection

Neurology (Cleveland; Ohio)

Dafne Dain Gandelman HOROVITZ; Da Silva Pone Marcos VINICIUS; Moura Pone SHEILA; Dias Saad Salles Tania REGINA; Bastos Boechat Marcia CRISTINA

DOI ISSN 0028-3878

2016 Artigo em periódico

HS Infectious Diseases

Zika Virus Infection in Pregnant Women in Rio de Janeiro

NEW ENGLAND JOURNAL OF MEDICINE (ONLINE)

Brasil PATRÍCIA; Pereira José P; Moreira M ELISABETH; Ribeiro Nogueira Rita M; Damasceno LUANA et al

DOI ISSN 1533-4406

2016 Artigo em periódico

HS Genetics (clinical)

ALG6-CDG: a recognizable phenotype with epilepsy; proximal muscle weakness; ataxia and behavioral and limb anomalies

Journal of Inherited Metabolic Disease

Morava EVA; Tiemes VERA; Tiel CHRISTIAN; Seta NATHALIE; De Lonlay PASCALE et al

DOI ISSN 0141-8955

2015 Artigo em periódico

LS Neuroscience (miscellaneous)

NUDT21</i> -spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

eLife

Gennarino Vincenzo A; Alcott Callison E; Chen Chun AN; Chaudhury ARINDAM; Gillentine Madelyn A et al

DOI ISSN 2050-084X

2015 Artigo em periódico

HS Genetics (clinical)

Body Composition of Individuals with Mucopolysaccharidosis

International Journal of Endocrinology and Metabolic Disorders

Cristiano De Abreu MARCELINO; Camila Rodrigues De OLIVEIRA; Cristina B GELLETE; Dafne Dain Gandelman HOROVITZ; Raquel BOY et al

ISSN 2380-548X

2015 Artigo em periódico

HS Genetics (clinical)

Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children

Molecular Genetics and Metabolism Reports

Dafne Dain Gandelman HOROVITZ; Acosta Angelina XAVIER; De Rosso Giuliani LIANE; Ribeiro Erlane MARQUES

DOI ISSN 2214-4269

2014 Capítulo de livro

HS Medicine (miscellaneous)

Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age

JIMD Reports

Lampe CHRISTINA; Atherton ANDREA; Burton Barbara K; Descartes MARIA; Giugliani ROBERTO et al

DOI ISBN 1111111111111

2014 Artigo em periódico

HS Medicine (miscellaneous)

Contradições das políticas públicas voltadas para doenças raras: o exemplo do programa de tratamento da Osteogenese Imperfeita no SUS.

Ciência e Saúde Coletiva (Impresso)

Maria Angelica F D LIMA; Dafne Dain Gandelman HOROVITZ

DOI ISSN 1413-8123