(Q24678265)

1

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A Oshima

2

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M Shimmoto

3

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Y Fukuhara

4

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H Sakuraba

5

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N Yanagisawa

6

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Y Suzuki

American Journal of Human Genetics

7

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language of work or name

English

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publication date

August 1991

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published in

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volume

49

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issue

2

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page(s)

435-42

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cites work

Cloning, sequencing, and expression of cDNA for human beta-galactosidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

A strategy to reveal high-frequency RFLPs along the human X chromosome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

Efficient Transformation of Human Fibroblasts by Adenovirus-Simian Virus 40 Recombinants

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

Expression vector system based on the chicken beta-actin promoter directs efficient production of interleukin-5.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

Adult type GMl-gangliosidosis: A complementation study on somatic cell hybrids

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

GM1-gangliosidosis: Accumulation of ganglioside GM1 in cultured skin fibroblasts and correlation with clinical types

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

β-galactosidase deficiency: Prolonged survival in three patients following early central nervous system deterioration

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

Galactosialidosis (beta-galactosidase-neuraminidase deficiency): a possible role of serine-thiol proteases in the degradation of beta-galactosidase molecules

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

Type III (chronic) GM1-gangliosidosis. Histochemical and ultrastructural studies of rectal biopsy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

Adult GM1-gangliosidosis: clinical patterns and rectal biopsy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

GM1-gangliosidosis: abnormalities in biosynthesis and early processing of beta-galactosidase in fibroblasts

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

Beta-galactosidase-deficient human fibroblasts: uptake and processing of the exogenous precursor enzyme expressed by stable transformant COS cells

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

Partial deficiency of hexosaminidase component A in juvenile GM2-gangliosidosis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683306

Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1907800

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A case of chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1907800