Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele (Q73481829)

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4 November 2019

title

Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9209791%20AND%20SRC:MED&resulttype=core&format=json

metachromatic leukodystrophy

4 November 2019

main subject

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2

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4 November 2019

Johannes Berger

series ordinal

3

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4 November 2019

1

A Lugowska

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4 November 2019

author name string

B Molzer

series ordinal

4

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4 November 2019

publication date

1 June 1997

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4 November 2019

published in

Clinical Biochemistry

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4 November 2019

volume

30

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4 November 2019

issue

4

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4 November 2019

page(s)

325-331

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Molecular genetics of metachromatic leukodystrophy

4 November 2019

cites work

1 reference

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Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant

7 January 2021

1 reference

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An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient

7 January 2021

1 reference

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Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews

7 January 2021

1 reference

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Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene

7 January 2021

1 reference

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Complex arylsulfatase A alleles causing metachromatic leukodystrophy

7 January 2021

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Molecular basis of different forms of metachromatic leukodystrophy

7 January 2021

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Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications

7 January 2021

1 reference

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Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency

7 January 2021

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Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood

7 January 2021

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A pedigree study of metachromatic leukodystrophy. Biochemical identification of the carrier state

7 January 2021

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Gmi-gangliosidosis. A variant with high activity of hepatic neutral beta-galactosidase

7 January 2021

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Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: dependence on reduction of arylsulfatase A activity

7 January 2021

1 reference

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An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy

7 January 2021

1 reference

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Inheritance of the enzyme deficiency in three neurolipidoses: variant 0 of Tay-Sachs disease (Sandhoff's disease), classic tay-sachs disease, and metachromatic leukodystrophy. Identification of the heterozygous carriers

7 January 2021

1 reference

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Metachromatic leukodystrophy: multiple nonfunctional and pseudodeficiency alleles in a pedigree: problems with diagnosis and counseling

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2897%2900033-7

Pseudodeficiency of arylsulphatase A: Strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2897%2900033-7

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

7 January 2021

1 reference

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Partial enzyme deficiencies: residual activities and the development of neurological disorders

7 January 2021

1 reference

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10.1016/S0009-9120(97)00033-7

7 January 2021

Identifiers

DOI

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4 November 2019

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