(Q33583826)

28 July 2017

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations (English)

1 reference

28 July 2017

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Jana Ledvinová

2

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author name string

Helena Poupetová

1

1 reference

28 July 2017

Linda Berná

3

1 reference

28 July 2017

Lenka Dvoráková

4

1 reference

28 July 2017

Viktor Kozich

5

1 reference

28 July 2017

Milan Elleder

6

1 reference

28 July 2017

language of work or name

1 reference

20 May 2010

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Journal of Inherited Metabolic Disease

28 July 2017

1 reference

28 July 2017

33

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28 July 2017

4

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28 July 2017

387-396

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https://scigraph.springernature.com/pub.10.1007/s10545-010-9093-7

28 July 2017

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cites work

Lysosomal storage disorders in the newborn

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

High incidence of later-onset fabry disease revealed by newborn screening

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Natural history of Fabry disease in females in the Fabry Outcome Survey.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Prevalence of lysosomal storage diseases in Portugal

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Genetics of the neuronal ceroid lipofuscinoses

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

The frequency of lysosomal storage diseases in The Netherlands.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Prevalence of lysosomal storage disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Neuronal ceroid lipofuscinoses

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry disease.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Sphingolipidoses in Turkey

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Leukodystrophy incidence in Germany.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903693

Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy

31 October 2018

1 reference

12 December 2020

Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey

1 reference

12 December 2020

Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype

1 reference

12 December 2020

Incidence of the mucopolysaccharidoses in Western Australia

1 reference

12 December 2020

Results of a nationwide screening for Anderson-Fabry disease among dialysis patients

1 reference

12 December 2020

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

1 reference

12 December 2020

Cumulative incidence rates of the mucopolysaccharidoses in Germany

1 reference

12 December 2020

10.1007/S10545-010-9093-7

Identifiers

DOI

1 reference

Dimensions Publication ID

28 July 2017

0 references

1 reference

28 July 2017

1 reference