Genetic heterogeneity in metachromatic leukodystrophy (Q34707253)

4 August 2017

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title

Genetic heterogeneity in metachromatic leukodystrophy (English)

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metachromatic leukodystrophy

4 August 2017

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1 reference

Kihara H

1

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4 August 2017

language of work or name

English

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publication date

1 March 1982

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American Journal of Human Genetics

4 August 2017

published in

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4 August 2017

volume

34

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4 August 2017

issue

2

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4 August 2017

page(s)

171-181

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Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy

4 August 2017

cites work

1 reference

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Bile salt activation of cerebroside sulphate sulphohydrolase

7 July 2018

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Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts

7 July 2018

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Metachromatic leukodystrophy in the habbanite Jews: high frequency in a genetic isolate and screening for heterozygotes

7 July 2018

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A cerebrosidesulfatase from swine kidney

7 July 2018

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Metachromatic leukodystrophy (MLD). 8. MLD in adults; diagnosis and pathogenesis

7 July 2018

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Juvenile GM2 gangliosidosis: Partial deficiency of bexosaminidase A

7 July 2018

1 reference

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Gaucher's disease: deficiency of 'acid' -glucosidase and reconstitution of enzyme activity in vitro

7 July 2018

1 reference

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Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures

7 July 2018

1 reference

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Cerebroside sulfatase determination in cultured human fibroblasts

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Cerebroside sulphate (sulphatide) sulphohydrolase: an improved assay method

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Infantile metachromatic leukodystrophy. Confirmation of a prenatal diagnosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Enzyme replacement in cultured fibroblasts from metachromatic leukodystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Selective Degradation of Abnormal Proteins in Mammalian Tissue Culture Cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Simplified procedure for preparation of 35S-labeled brain sulfatide

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Multiple sulfatase deficiencies in cultured skin fibroblasts. Occurrence in patients with a variant form of metachromatic leukodystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

The accumulation of cerebroside sulfates by fibroblasts in culture from patients with late infantile metachromatic leukocystrophy.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Experimental studies on the pathogenesis of leucodystrophies. II. The effect of sphingolipids on various cell types in cultures from the nervous system.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Metachromatic leukodystrophy (sulfatide lipidoses) cultured in vitro.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Biochemical and genetic studies of plasma and leukocyte alpha-L-fucosidase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

The nature of the residual arylsulfatase activity in metachromatic leukodystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Absence of Hexosaminidase a and B in a Normal Adult

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Inheritance of metachromatic leukodystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

An activator stimulating the enzymic hydrolysis of sphingoglycolipids

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Assignment of a gene for arylsulfatase B to human chromosome 5 using human-mouse somatic cell hybrids

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Kinetic and immunochemical characterization of low-activity serum alpha-L-fucosidase from a phenotypically normal individual

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Low arylsulphatase A activity in a family without metachromatic leukodystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Prenatal metachromatic leukodystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

The Activator of Cerebroside Sulphatase. Purification from Human Liver and Identification as a Protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Activators for sphingohydrolases and the nature of the sphingomyelinase deficiency in Niemann-Pick disease types A, B and C (author's transl)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Genetic complementation studies of multiple sulfatase deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Evidence for the presence of two separate protein activators for the enzymic hydrolysis of GM1 and GM2 gangliosides

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

X-linked ichthyosis due to steroid-sulphatase deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Prenatal diagnosis of genetic disease in Canada: report of a collaborative study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Arysulfatase A modulation with pH in multiple sulfatase deficiency disorder fibroblasts

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Metachromatic leukodystrophy without arylsulfatase A deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Expression of human arylsulfatase-A in man-hamster somatic cell hybrids

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Lysosomal arylsulfatase deficiencies in humans: Chromosome assignments for arylsulfatase A and B

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Cerebroside sulfate hydrolysis by fibroblasts from a parent with metachromatic leukodystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

The activator of cerebroside sulphatase binding studies with enzyme and substrate demonstrating the detergent function of the activator protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Low molecular weight proteins in secondary lysosomes as activators of different sphingolipid hydrolases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Discussion: Metachromatic Leukodystrophy, An Unusual Case with a Subtle Cerebroside Sulfatase Defect

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Late Infantile Metachromatic Leucodystrophy of the Genetic Type

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Metachromatic sulfatides in cerebral white matter and kidney.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Metachromatic Leukodystrophy: Diagnosis with Samples of Venous Blood

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Partial deficiency of hexosaminidase component A in juvenile GM2-gangliosidosis

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Abnormal Sulphatase Activities in Two Human Diseases (Metachromatic Leucodystrophy and Gargoylism)

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685282

Role of amniocentesis in the intrauterine detection of genetic disorders

26 October 2018

1 reference

12 December 2020

Infantile metachromatic leukodystrophy

1 reference

12 December 2020

Metabolic disorders of sphingolipid metabolism in man

1 reference

12 December 2020

GM1-gangliosidosis Types 1 and 2: Enzymatic Differences in Cultured Fibroblasts

1 reference

12 December 2020

Metachromatic leukodystrophy (MLD). IX. Qualitative and quantitative differences in urinary arylsulfatase A in different forms of MLD

1 reference

12 December 2020

A monospecific antibody to human sulfatase A. Preparation, characterization and significance

1 reference

12 December 2020

Infantile and adult-onset metachromatic leukodystrophy. Biochemical comparisons and predictive diagnosis

1 reference

12 December 2020

A correlation of intracellular cerebroside sulfatase activity in fibroblasts with latency in metachromatic leukodystrophy

1 reference

12 December 2020

Metachromatic leukodystrophy. I. Prenatal detection of arylsulphatase A deficiency

1 reference

12 December 2020

Juvenile metachromatic leukodystrophy: deficiency of an arylsufatase A component

1 reference

12 December 2020

Deficiency of Arylsulphatase A in Leucocytes and Skin Fibroblasts in Juvenile Metachromatic Leucodystrophy

1 reference

12 December 2020

Prenatal diagnosis of a case of metachromatic leucodystrophy (author's transl)

1 reference

12 December 2020

Absence of ASA Activity in Healthy Father of a Patient with Metachromatic Leukodystrophy

1 reference

12 December 2020

The occurrence of low α-l-fucosidase activities in normal human serum

1 reference

12 December 2020

Fucosidosis: Detection of the carrier state in peripheral blood leukocytes

1 reference

12 December 2020

Possible misdiagnosis of Krabbe disease

1 reference

12 December 2020

Segregation within a family of two mutant alleles for hexosaminidase A

1 reference

12 December 2020

Plasma alpha-L-fucosidase: presence of a low activity variant in some normal individuals

1 reference

12 December 2020

Prenatal Diagnosis of Metachromatic Leukodystrophy in a Family with Pseudo Arylsulfatase A Deficiency by the Cerebroside Sulfate Loading Test

1 reference

12 December 2020

Letter to the Editor: About the Inheritance of the Aryl Sulfatase A

1 reference

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).]

1 reference

12 December 2020

Identifiers

PMC publication ID

1685282

1 reference

4 August 2017

1 reference