(Q39674782)

13 September 2017

Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16. (English)

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13 September 2017

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M Genuardi

7

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author name string

S Catarzi

1

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13 September 2017

L Giunti

2

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13 September 2017

F Papadia

3

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13 September 2017

O Gabrielli

4

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13 September 2017

R Guerrini

5

1 reference

13 September 2017

M A Donati

6

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13 September 2017

A Morrone

8

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13 September 2017

language of work or name

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2 December 2011

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Molecular Genetics and Metabolism

13 September 2017

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13 September 2017

105

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13 September 2017

3

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13 September 2017

438-442

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Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase

13 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part III: Odontoid dysplasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Incidence of the mucopolysaccharidoses in Northern Ireland

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Incidence of the mucopolysaccharidoses in Western Australia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

N-Acetylgalactosamine-6-Sulfate Sulfatase in Human Placenta: Purification and Characteristics1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Uniparental disomies in unselected populations

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

GALNS gene expression profiling in Morquio A patients' fibroblasts.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

The sulfatase gene family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Conversion of cysteine to formylglycine: a protein modification in the endoplasmic reticulum

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Effect of maternal age on autosomal trisomies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Variable outcomes in mosaic trisomy 16: five case reports and literature analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Two cases of trisomy 16 mosaicism ascertained postnatally

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Human maternal uniparental disomy for chromosome 16 and fetal development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Case report: uniparental disomy 16 in association with congenital heart disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Maternal uniparental disomy of chromosome 16 and body stalk anomaly.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart's hydrops fetalis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.196

10.1016/J.YMGME.2011.11.196

7 January 2021

Identifiers

DOI

1 reference

release_cqt6n5jw4ffizoy6tujxaxvkpa

13 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/cqt6n5jw4ffizoy6tujxaxvkpa

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference