Variable clinical presentation in lysosomal storage disorders (Q34471641)

2 August 2017

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title

Variable clinical presentation in lysosomal storage disorders (English)

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2 August 2017

Beck M

1

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2 August 2017

1 January 2001

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Journal of Inherited Metabolic Disease

2 August 2017

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2 August 2017

24 Suppl 2

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2 August 2017

47-51; discussion 45-6

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https://scigraph.springernature.com/pub.10.1023/a:1012463605992

2 August 2017

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cites work

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Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

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12 December 2020

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12 December 2020

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene

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Inter- and intrafamilial variability in mucolipidosis II (I-cell disease)

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12 December 2020

Fucosidosis revisited: a review of 77 patients

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Heterogeneity of Morquio disease.

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12 December 2020

Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.

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Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: implications for evaluation of new therapies.

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Identifiers

DOI

10.1023/A:1012463605992

1 reference

PubMed ID

11758678

Dimensions Publication ID

2 August 2017

0 references

1 reference

PubMed ID

11758678