(Q35889203)

10 August 2017

1 reference

title

"Pseudodeficiencies" of lysosomal hydrolases (English)

1 reference

10 August 2017

G H Thomas

1

1 reference

PMCID

1918197

10 August 2017

language of work or name

English

0 references

publication date

1 June 1994

1 reference

American Journal of Human Genetics

10 August 2017

1 reference

10 August 2017

54

1 reference

10 August 2017

6

1 reference

10 August 2017

934-940

1 reference

Gaucher disease: gene frequencies in the Ashkenazi Jewish population

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Distribution of a pseudodeficiency allele among Tay-Sachs carriers

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Arylsulfatase A in pseudodeficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Metachromatic leukodystrophy and pseudoarylsulfatase A deficiency in a Danish family

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

A nonpathologic allele (IW) for low alpha-L-iduronidase enzyme activity vis-a-vis prenatal diagnosis of Hurler syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Pseudodeficiency of arylsulfatase A: a counseling dilemma.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Fucosidosis revisited: a review of 77 patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Molecular Genetics of Metachromatic Leukodystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Population frequency of the arylsulphatase A pseudo-deficiency allele

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Molecular basis of different forms of metachromatic leukodystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Diagnosis of arylsulfatase A deficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Polymorphism of human alpha fucosidase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Absence of Hexosaminidase a and B in a Normal Adult

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Characterization of a variant of beta-hexosaminidase: "hexosaminidase Paris"

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Characterization of unusual hexosaminidase A (HEX A) deficient human mutants

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

The genetics of the aryl sulfatase A locus.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Two abnormalities of hexosaminidase A in clinically normal individuals.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Aryl sulfatase A deficiency in psychiatric and neurologic patients

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Phenotypic Consequences of Low Arylsulfatase A Genotypes (ASAp/ASAp and ASA<sup>–</sup>/ASAp): Does There Exist an Association with Multiple Sclerosis?

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918197

Pseudodeficiency of alpha-iduronidase

24 September 2018

1 reference

12 December 2020

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

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

Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals

1 reference

12 December 2020

Pseudodeficiency of alpha-galactosidase A

1 reference

12 December 2020

Deficiency of lysosomal hydrolases in apparently healthy individuals

1 reference

12 December 2020

Genotype Assignments in a Family with the Pseudo Arylsulfatase A Deficiency Trait without Metachromatic Leukodystrophy

1 reference

12 December 2020

Hexosaminidase A deficiency in adults

1 reference

12 December 2020

A family with pseudodeficiency of acid alpha-glucosidase

1 reference

12 December 2020

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

1 reference

12 December 2020

Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy

1 reference

12 December 2020

Low beta-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII

1 reference

12 December 2020

alpha-L-fucosidase in human fibroblasts. I. The enzyme activity polymorphism

1 reference

12 December 2020

Pseudodeficiencies of Arylsulfatase A and Galactocerebrosidase Activities

1 reference

12 December 2020

First-trimester biochemical and molecular diagnoses using chorionic villi: high accuracy in the U.S. collaborative study

1 reference

12 December 2020

Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain

1 reference

12 December 2020

Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency

1 reference

12 December 2020

Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch

1 reference

12 December 2020

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

1 reference

12 December 2020

Ceramide trihexosidosis (fabry's disease) without skin lesions

1 reference

12 December 2020

Identifiers

PMCID

1918197

1 reference

10 August 2017

1 reference

PMCID

1918197