(Q41518862)

2 October 2017

title

An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A. (English)

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metachromatic leukodystrophy

2 October 2017

main subject

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K Honke

1

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2 October 2017

T Kobayashi

2

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2 October 2017

T Fujii

3

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2 October 2017

S Gasa

4

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2 October 2017

M Xu

5

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2 October 2017

Y Takamaru

6

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2 October 2017

R Kondo

7

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2 October 2017

S Tsuji

8

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2 October 2017

A Makita

9

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2 October 2017

publication date

1 November 1993

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2 October 2017

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2 October 2017

volume

92

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2 October 2017

issue

5

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2 October 2017

page(s)

451-456

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An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy

2 October 2017

cites work

1 reference

12 December 2020

Late-onset metachromatic leukodystrophy: molecular pathology in two siblings

1 reference

12 December 2020

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

12 December 2020

A CONTROLLED STUDY OF ENZYMIC ACTIVITIES IN THREE HUMAN DISORDERS OF GLYCOLIPID METABOLISM

1 reference

12 December 2020

Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange

1 reference

12 December 2020

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B

1 reference

12 December 2020

Proteolytic processing of human lysosomal arylsulfatase A

1 reference

12 December 2020

cDNA cloning, nucleotide sequence and expression of the gene for arylsulfatase in the sea urchin (Hemicentrotus pulcherrimus) embryo.

1 reference

12 December 2020

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

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12 December 2020

EVIDENCE FOR THE GENETIC BLOCK IN METACHROMATIC LEUCODYSTROPHY (ML).

1 reference

12 December 2020

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

Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient

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12 December 2020

Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B

1 reference

12 December 2020

Molecular basis of different forms of metachromatic leukodystrophy

1 reference

12 December 2020

Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy

1 reference

12 December 2020

Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C.

1 reference

12 December 2020

Metachromatic sulfatides in cerebral white matter and kidney.

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12 December 2020

DNA sequencing with chain-terminating inhibitors

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12 December 2020

The assay of arylsulphatases A and B in human urine

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12 December 2020

Cloning and expression of human steroid-sulfatase. Membrane topology, glycosylation, and subcellular distribution in BHK-21 cells

1 reference

12 December 2020

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

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12 December 2020

High-efficiency transformation of mammalian cells by plasmid DNA

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12 December 2020

Structure of the arylsulfatase A gene

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12 December 2020

Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy

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12 December 2020

Cloning and expression of human arylsulfatase A

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12 December 2020

[Two types of cerebroside sulfates as so-called prelipids and storage substances in leukodystrophy of type Scholz (metachromatic form of diffuse sclerosis).]

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12 December 2020

Identifiers

DOI

10.1007/BF00216449

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Dimensions Publication ID

2 October 2017

1023648331

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