Sanfilippo syndrome: Overall review-Reference-Cited by-同舟云学术

Sanfilippo syndrome: Overall review

Published:2015-06 Issue:3 Volume:57 Page:331-338
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatr Int

Author:

Andrade Fernando¹,Aldámiz-Echevarría Luis¹,Llarena Marta¹,Couce María Luz²

Affiliation:

1. Division of Metabolism; BioCruces Health Research Institute, CIBER de Enfermedades Raras (CIBERER); Barakaldo Spain

2. Unit of Diagnosis and Treatment of Congenital Metabolic Diseases; Neonatology Service, Department of Pediatrics, CIBER de Enfermedades Raras (CIBERER), IDIS Clinic University Hospital of Santiago de Compostela; Coruña Spain

Publisher

Wiley

Subject

Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ped.12636/fullpdf

Reference78 articles.

1. Mucopolysaccharides disorder: A possible new genotype of Hurler's syndrome;Harris;Am. J. Dis. Child.,1961

2. Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type);Sanfilippo;J. Pediatr.,1963

3. Sanfilippo syndrome: A mini-review;Valstar;J. Inherit. Metab. Dis.,2008

4. Incidence of the mucopolysaccharidoses in Western Australia;Nelson;Am. J. Med. Genet. A,2003

5. The frequency of lysosomal storage diseases in The Netherlands;Poorthuis;Hum. Genet.,1999

Cited by 99 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Systematic Review of Genetic Substrate Reduction Therapy in Lysosomal Storage Diseases: Opportunities, Challenges and Delivery Systems;BioDrugs;2024-08-23

2. The Role of the Gut Microbiota in Sanfilippo Syndrome’s Physiopathology: An Approach in Two Affected Siblings;International Journal of Molecular Sciences;2024-08-14

3. AAV gene replacement therapy for treating MPS IIIC: Facilitating bystander effects via EV‐mRNA cargo;Journal of Extracellular Vesicles;2024-07

4. Causes of death in mucopolysaccharidoses;Molecular Genetics and Metabolism;2024-07

5. Genetic features of patients with MPS type IIIB: Description of five pathogenic gene variations;Gene;2024-06