Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III-Reference-Cited by-同舟云学术

Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III

Published:2020 Issue: Volume:8 Page:
ISSN:2326-4594
Container-title:Journal of Inborn Errors of Metabolism and Screening
language:
Short-container-title:J. inborn errors metab. screen.

Author:

Escolar Maria¹,Bradshaw Jessica²,Byers Valerie Tharp³,Giugliani Roberto⁴,Golightly Lynn¹,Lourenço Charles Marques⁵^ORCID,McDonald Kimberly⁶,Muschol Nicole⁷,Newsom-Davis Imogen⁸,O’Neill Cara³,Peay Holly L.⁹,Siedman Jennifer¹⁰,Solano Martha L.¹¹,Wirt Tessa¹,Wood Tim¹²,Zwaigenbaum Lonnie¹³

Affiliation:

1. Children's Hospital of Pittsburgh, USA

2. University of South Carolina, USA

3. Cure Sanfilippo Foundation, USA

4. Universidade Federal do Rio Grande do Sul, Brasil; Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional, Brasil

5. Centro Universitário Estácio de Ribeirão Preto, Brasil

6. University of Mississippi Medical Center, USA

7. University Medical Center Hamburg-Eppendorf, Germany

8. Great Ormond Street Hospital NHS Foundation Trust, United Kingdom

9. RTI International, USA

10. Autonomous Collaborator, USA

11. Fundación Cardio-Infantil, Colombia

12. Greenwood Genetics Center, USA

13. University of Alberta, Canada

Publisher

FapUNIFESP (SciELO)

Subject

Genetics (clinical),Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

http://www.scielo.br/pdf/jiems/v8/2326-4594-jiems-8-e20200002.pdf

Reference40 articles.

1. Sanfilippo syndrome: Overall review;Andrade F;Pediatr Int,2015

2. Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder;Wijburg FA;Acta Paediatr,2013

3. Overview of the mucopolysaccharidoses;Muenzer J;Rheumatology (Oxford),2011

4. Natural history of Sanfilippo syndrome in Spain;Delgadillo V;Orphanet J Rare Dis,2013

5. Epidemiology of Sanfilippo syndrome: results of a systematic literature review;Zelei T;Orphanet J Rare Dis,2018

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1. Goat’s Genetic Disorder: Mucoplysaccharidosis III D (MPS III D);Ziraat Mühendisliği;2023-12-30

2. Sanfilippo syndrome: consensus guidelines for clinical care;Orphanet Journal of Rare Diseases;2022-10-27

3. Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach;Journal of Multidisciplinary Healthcare;2022-09

4. Misdiagnosis in mucopolysaccharidoses;Journal of Applied Genetics;2022-05-13

5. Lysosomal storage diseases. Mucopolysaccharidosis type III, sanfilippo syndrome;Pediatrician (St. Petersburg);2021-12-13