(Q44890170)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231379%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

Intellectual and neurological functioning in Morquio syndrome (MPS IVa) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231379%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231379%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Andrew C Peet

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231379%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Chris Hendriksz

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231379%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

S Kearney

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231379%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

J Horton

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231379%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

K Foster

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231379%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

language of work or name

1 reference

10 January 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231379%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

20 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231379%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231379%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231379%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

323-328

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22231379%20AND%20SRC:MED&resulttype=core&format=json

Williams syndrome hypersociability: a neuropsychological study of the amygdala and prefrontal cortex hypotheses

20 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9430-5

MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation

21 January 2018

1 reference

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Enzyme Replacement in a Human Model of Mucopolysaccharidosis IVA In Vitro and Its Biodistribution in the Cartilage of Wild Type Mice

21 January 2018

1 reference

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Natural progression of neurological disease in mucopolysaccharidosis type II.

21 January 2018

1 reference

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Hypersociability in Williams syndrome: a role for the amygdala?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9430-5

II. Hypersociability in Williams Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9430-5

Regional metabolic patterns in mild cognitive impairment and Alzheimer's disease: A 1H MRS study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9430-5

The morquio syndrome: Neuropathologyxs and biochemistry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9430-5

Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9430-5

Developmental expression of keratan sulfate-like immunoreactivity distinguishes thalamic nuclei and cortical domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9430-5

Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review

21 January 2018

1 reference

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Endoplasmic reticulum Ca2+ increases enhance mutant glucocerebrosidase proteostasis.

21 January 2018

1 reference

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Ultracytochemical demonstration of ATP-dependent calcium pump in ameloblasts of rat incisor enamel organ

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9430-5

N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9430-5

Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9430-5

Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9430-5

Enzyme replacement therapy in a murine model of Morquio A syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9430-5

Ca2+, autophagy and protein degradation: thrown off balance in neurodegenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9430-5

Common and uncommon pathogenic cascades in lysosomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9430-5

Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9430-5

Brain keratan sulfate and glial scar formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9430-5

Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome).

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22231379

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22231379

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Calmodulin blocker inhibits Ca++-ATPase activity in secretory ameloblast of rat incisor

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22231379