Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder (Q36844479)

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scientific article published on 6 February 2013

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English	Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder	scientific article published on 6 February 2013

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scholarly article

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Europe PubMed Central

16 August 2017

8 references

12 March 2019

13 March 2019

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17 June 2019

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

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Europe PubMed Central

16 August 2017

autism spectrum disorder

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attention deficit hyperactivity disorder

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12 March 2019

13 March 2019

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21 March 2019

24 March 2019

22 April 2019

25 April 2019

17 June 2019

pervasive developmental disorder

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12 March 2019

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21 March 2019

24 March 2019

22 April 2019

25 April 2019

17 June 2019

Sanfilippo syndrome

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12 March 2019

13 March 2019

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24 March 2019

22 April 2019

25 April 2019

17 June 2019

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based on heuristic

inferred from title

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based on heuristic

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Anna Tylki-Szymańska

4

object named as

Anna Tylki-Szymańska

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Europe PubMed Central

16 August 2017

Grzegorz Węgrzyn

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object named as

Grzegorz Węgrzyn

1 reference

Europe PubMed Central

16 August 2017

author name string

Frits A Wijburg

1

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Europe PubMed Central

16 August 2017

Barbara K Burton

3

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Europe PubMed Central

16 August 2017

language of work or name

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publication date

6 February 2013

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Europe PubMed Central

16 August 2017

1 May 2013

8 references

12 March 2019

13 March 2019

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

17 June 2019

Acta Paediatrica

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Europe PubMed Central

16 August 2017

12 March 2019

13 March 2019

14 March 2019

21 March 2019

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22 April 2019

25 April 2019

17 June 2019

102

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16 August 2017

462-470

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Europe PubMed Central

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5

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Europe PubMed Central

16 August 2017

copyright license

Creative Commons Attribution 2.5 Generic

8 references

Europe PubMed Central

12 March 2019

Europe PubMed Central

13 March 2019

Europe PubMed Central

14 March 2019

Europe PubMed Central

21 March 2019

Europe PubMed Central

24 March 2019

Europe PubMed Central

22 April 2019

Europe PubMed Central

25 April 2019

Europe PubMed Central

17 June 2019

on focus list of Wikimedia project

0 references

Gene expression-targeted isoflavone therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

29 September 2017

Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

29 September 2017

Evaluation of miglustat treatment in patients with type III mucopolysaccharidosis: a randomized, double-blind, placebo-controlled study

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29 September 2017

Musculoskeletal manifestations of Sanfilippo Syndrome (mucopolysaccharidosis type III).

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29 September 2017

Intrathecal enzyme replacement therapy for mucopolysaccharidosis I: translating success in animal models to patients

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29 September 2017

Two-year follow-up of Sanfilippo Disease patients treated with a genistein-rich isoflavone extract: assessment of effects on cognitive functions and general status of patients

1 reference

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29 September 2017

Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies

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29 September 2017

Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease

1 reference

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29 September 2017

The treatment of neurodegenerative disorders using umbilical cord blood and menstrual blood-derived stem cells.

1 reference

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29 September 2017

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

29 September 2017

Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year period

1 reference

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29 September 2017

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins

1 reference

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29 September 2017

Preimplantation genetic diagnosis of Morquio disease.

1 reference

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29 September 2017

Sanfilippo syndrome: a mini-review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

29 September 2017

Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

29 September 2017

First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

29 September 2017

Prenatal diagnosis of Sanfilippo syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

29 September 2017

Prevalence of lysosomal storage disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

29 September 2017

Behaviour in mucopolysaccharide disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

29 September 2017

Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

29 September 2017

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

27 June 2018

Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia.(Invited comment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

27 June 2018

Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

27 June 2018

4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

27 June 2018

The spot test is not a reliable screening procedure for mucopolysaccharidoses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

27 June 2018

Genistein supplementation in patients affected by Sanfilippo disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

5 September 2018

Screening patients referred to a metabolic clinic for lysosomal storage disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

5 September 2018

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

5 September 2018

Determination of urinary oligosaccharides by high-performance liquid chromatography/electrospray ionization-tandem mass spectrometry: Application to Hunter syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

5 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

5 September 2018

Stability of urinary glycosaminoglycans in patients with mucopolysaccharidoses.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

5 September 2018

Quantitation of urinary glycosaminoglycans using dimethylene blue as a screening technique for the diagnosis of mucopolysaccharidoses: an evaluation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

5 September 2018

Concurrent measurement of unbound genistein in the blood, brain and bile of anesthetized rats using microdialysis and its pharmacokinetic application

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

5 September 2018

Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

5 September 2018

Diagnosis of mucopolysaccharidoses: how to avoid false positives and false negatives.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

5 September 2018

Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

5 September 2018

Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

5 September 2018

Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654162

4 December 2018

An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal screening for lysosomal storage disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MPS screening methods, the Berry spot and acid turbidity tests, cause a high incidence of false-negative results in sanfilippo and morquio syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carrier detection in Sanfilippo syndrome type B: report of six families

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C)

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID)

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA)

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of Sanfilippo A syndrome: experience in 35 pregnancies at risk and the use of a new fluorogenic substrate for the heparin sulphamidase assay

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses: characterization and basis of a diagnostic test for MPS

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bone marrow transplantation in mucopolysaccharidosis type IIIA: a comparison of an early treated patient with his untreated sibling

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A)

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Validation of an LC-MS/MS assay for detecting relevant disaccharides from keratan sulfate as a biomarker for Morquio A syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genistein in Sanfilippo disease: a randomized controlled crossover trial

1 reference

https://pubmed.ncbi.nlm.nih.gov/23336697

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1111/APA.12169

1 reference

Europe PubMed Central

16 August 2017

1 reference

Europe PubMed Central

16 August 2017

1 reference

Europe PubMed Central

16 August 2017

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