Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network-Reference-Cited by-同舟云学术

Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network

Published:2021-11-22 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Montenegro Yorran Hardman Araújo¹²³⁴^ORCID,Souza Carolina Fischinger Moura¹^ORCID,Kubaski Francyne¹^ORCID,Trapp Franciele Barbosa¹³⁴^ORCID,Burin Maira Graeff¹⁴^ORCID,Michelin‐Tirelli Kristiane¹⁴,Leistner‐Segal Sandra¹⁴,Facchin Ana Carolina Brusius¹⁴^ORCID,Medeiros Fernanda S.¹⁴,Giugliani Luciana⁵^ORCID,Ribeiro Erlane Marques⁶^ORCID,Lourenço Charles Marques⁷⁸,Cardoso‐dos‐Santos Augusto César²³^ORCID,Ribeiro Márcia Gonçalves⁹,Kim Chong Ae¹⁰^ORCID,Castro Matheus Augusto Araújo¹⁰^ORCID,Embiruçu Emília Katiane¹¹,Steiner Carlos Eduardo¹²^ORCID,Moreira Maria Lucia Castro¹³,Montano Hector Quintero¹⁴,Baldo Guilherme²^ORCID,Giugliani Roberto¹²³⁴^ORCID

Affiliation:

1. Medical Genetics Service Hospital de Clínicas de Porto Alegre Porto Alegre Brazil

2. Post‐graduate Program in Genetics and Molecular Biology Department of Genetics/UFRGS Porto Alegre Brazil

3. INAGEMP Porto Alegre Brazil

4. MPS Brazil Network Medical Genetics Service, HCPA Porto Alegre Brazil

5. PTC Farmacêutica do Brasil LTDA São Paulo Brazil

6. Medical Genetics Service Hospital Infantil Albert Sabin Fortaleza Brazil

7. Centro Universitário Estácio Ribeirão Preto Brazil

8. Faculdade de Medicina de São José do Rio Preto, FAMERP São José do Rio Preto Brazil

9. Medical Genetics Service, Instituto de Puericultura e Pediatria Martagão Gesteira/UFRJ Rio de Janeiro Brazil

10. Genetic Unity, Instituto da Criança HC FMUSP São Paulo Brazil

11. Science of Life Department Universidade do Estado da Bahia Salvador Brazil

12. Department of Medical Genetics and Genomic Medicine Faculdade de Ciências Médicas/UNICAMP São Paulo Brazil

13. Hospital Santa Casa da Misericordia Campo Grande Brazil

14. Hospital Verdi Cevallos Portoviejo Ecuador

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62572

Reference27 articles.

1. Mucopolysaccharidosis type IIIB 289 (MPS IIIB) masquerading as a behavioural disorder;Brady J.;BML Case Reports,2013

2. Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

3. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry

4. Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

5. Measuring Urinary Glycosaminoglycans in the Presence of Protein: An Improved Screening Procedure for Mucopolysaccharidoses Based on Dimethylmethylene Blue

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