(Q37034093)

17 August 2017

Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts (English)

2 references

https://api.crossref.org/works/10.1172/JCI109247

17 August 2017

3 April 2022

author name string

LaBadie GU

2

1 reference

PMCID

371892

17 August 2017

N. G. Beratis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A34626

3 April 2022

G. U. LaBadie

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A34626

3 April 2022

K. Hirschhorn

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A34626

3 April 2022

language of work or name

English

0 references

publication date

1 December 1978

1 reference

PMCID

371892

full work available at URL

17 August 2017

https://europepmc.org/articles/PMC371892

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A34626

https://europepmc.org/articles/PMC371892?pdf=render

3 April 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A34626

Journal of Clinical Investigation

3 April 2022

published in

1 reference

17 August 2017

62

1 reference

17 August 2017

1264-1274

1 reference

17 August 2017

6

1 reference

Protein measurement with the Folin phenol reagent

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371892

Simultaneous absence of alpha-1,4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371892

Biochemical, immunological, and cell genetic studies in glycogenosis type II

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371892

Acid ?-glucosidase: A new polymorphism in man demonstrable by ?affinity? electrophoresis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371892

The molecular heterogeneity of purified human liver lysosomal α-Glucosidase (acid α-Glucosidase)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371892

Some properties of human liver acid α-glucosidase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371892

Late-onset acid maltase deficiency. Detection of patients and heterozygotes by urinary enzyme assay

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371892

Two alpha-glucosidases in cultured amniotic fluid cells and their differentiation in the prenatal diagnosis of Pompe's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371892

Physico-chemical and immunological properties of acid α-glucosidase from various human tissues in relation to glycogenosis type II (pompe's disease)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371892

Further purification and characterization of the acid α-glucosidase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371892

Adult myopathy from glycogen storage disease due to acid maltase deficiency

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371892

Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371892

Properties of placental alkaline phosphatase. 3. Thermostability and urea inhibition of isolated components of the three common phenotypes.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371892

Disk Electrophoresis of Basic Proteins and Peptides on Polyacrylamide Gels

27 June 2018

1 reference

12 December 2020

Glycogen storage disease of the heart. I. Report of 2 cases in siblings with chemical and pathologic studies

1 reference

12 December 2020

Antibodies to papain. A selective fractionation according to inhibitory capacity

1 reference

12 December 2020

Molecular studies on glycogen storage diseases

1 reference

12 December 2020

Rodent and human acid -glucosidase. Purification, properties and inhibition by antibodies. Investigation in type II glycogenosis

1 reference

12 December 2020

A fluorometric assay of alpha-glucosidase and its application in the study of Pompe's disease

1 reference

12 December 2020

Adult acid maltase deficiency. Abnormalities in fibroblasts cultured from patients

1 reference

12 December 2020

α-1,4-Glucosidase activity in leucocytes and lymphocytes of 2 adult patients with glycogen-storage disease type II, (Pompe's disease)

1 reference

12 December 2020

Properties of placental alkaline phosphatase. II. Interactions of fast- and slow-migrating components

1 reference

12 December 2020

Muscular form of glycogenosis, type II (Pompe)

1 reference

12 December 2020

Late Infantile Acid Maltase Deficiency

1 reference

12 December 2020

Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI109247

1 reference

17 August 2017

1 reference

17 August 2017

1 reference

PMCID

371892