(Q55982292)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25851924%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

review article

1 reference

title

Sanfilippo syndrome: Overall review (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25851924%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25851924%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author name string

Fernando Andrade

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25851924%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Luis Aldámiz-Echevarría

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25851924%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Marta Llarena

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25851924%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

publication date

1 June 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25851924%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

published in

Pediatrics International

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25851924%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

volume

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25851924%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25851924%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

page(s)

331-338

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25851924%20AND%20SRC:MED&resulttype=core&format=json

Sanfilippo syndrome: a mini-review

4 March 2020

cites work

1 reference

The frequency of lysosomal storage diseases in The Netherlands.

21 January 2018

1 reference

Prevalence of lysosomal storage diseases in Portugal

21 January 2018

1 reference

Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts

21 January 2018

1 reference

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

21 January 2018

1 reference

Diagnosis of Sanfilippo type A syndrome by estimation of sulfamidase activity using a radiolabelled tetrasaccharide substrate

21 January 2018

1 reference

Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)

21 January 2018

1 reference

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

21 January 2018

1 reference

Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8

21 January 2018

1 reference

A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases

21 January 2018

1 reference

Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders

21 January 2018

1 reference

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

21 January 2018

1 reference

Parental social support, coping strategies, resilience factors, stress, anxiety and depression levels in parents of children with MPS III (Sanfilippo syndrome) or children with intellectual disabilities (ID).

21 January 2018

1 reference

Musculoskeletal manifestations of Sanfilippo Syndrome (mucopolysaccharidosis type III).

21 January 2018

1 reference

High prevalence of femoral head necrosis in Mucopolysaccharidosis type III (Sanfilippo disease): a national, observational, cross-sectional study

21 January 2018

1 reference

Natural history of Sanfilippo syndrome type A.

21 January 2018

1 reference

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations

21 January 2018

1 reference

Mucopolysaccharidosis Type IIIA presents as a variant of Klüver-Bucy syndrome

21 January 2018

1 reference

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

21 January 2018

1 reference

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

21 January 2018

1 reference

Natural history of Sanfilippo syndrome in Spain

21 January 2018

1 reference

Stability of urinary glycosaminoglycans in patients with mucopolysaccharidoses.

21 January 2018

1 reference

On-line separations combined with MS for analysis of glycosaminoglycans

21 January 2018

1 reference

Prenatal diagnosis of Sanfilippo syndrome

21 January 2018

1 reference

Serum MIP-1 alpha level: a biomarker for the follow-up of lentiviral therapy in mucopolysaccharidosis IIIB mice

21 January 2018

1 reference

Abnormal gangliosides are localized in lipid rafts in Sanfilippo (MPS3a) mouse brain.

21 January 2018

1 reference

Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation.

21 January 2018

1 reference

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome).

21 January 2018

1 reference

Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders.

21 January 2018

1 reference

The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations

21 January 2018

1 reference

Transplantation of human umbilical cord blood cells benefits an animal model of Sanfilippo syndrome type B.

21 January 2018

1 reference

Repeated administrations of human umbilical cord blood cells improve disease outcomes in a mouse model of Sanfilippo syndrome type III B.

21 January 2018

1 reference

Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III.

21 January 2018

1 reference

Enzyme replacement for lysosomal diseases

21 January 2018

1 reference

Treatment of lysosomal storage disorders : progress with enzyme replacement therapy

21 January 2018

1 reference

Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies

21 January 2018

1 reference

Restoration of central nervous system alpha-N-acetylglucosaminidase activity and therapeutic benefits in mucopolysaccharidosis IIIB mice by a single intracisternal recombinant adeno-associated viral type 2 vector delivery

21 January 2018

1 reference

Correction of neurological disease of mucopolysaccharidosis IIIB in adult mice by rAAV9 trans-blood-brain barrier gene delivery

21 January 2018

1 reference

Disease correction by combined neonatal intracranial AAV and systemic lentiviral gene therapy in Sanfilippo Syndrome type B mice.

21 January 2018

1 reference

The use of elevated doses of genistein-rich soy extract in the gene expression-targeted isoflavone therapy for Sanfilippo disease patients

21 January 2018

1 reference

High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system

21 January 2018

1 reference

Changes in hair morphology as a biomarker in gene expression-targeted isoflavone therapy for Sanfilippo disease.

21 January 2018

1 reference

Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones

21 January 2018

1 reference

Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease

21 January 2018

1 reference

Assessment of sleep in children with mucopolysaccharidosis type III.

21 January 2018

1 reference

Anaesthesia and airway management in mucopolysaccharidosis.

21 January 2018

1 reference

Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease.

21 January 2018

1 reference

Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases

21 January 2018

1 reference

Heparin cofactor II–thrombin complex: A biomarker of MPS disease

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/PED.12636

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25851924%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference