(Q40615911)

22 September 2017

Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes (English)

1 reference

22 September 2017

1 reference

Palmeri S

1

1 reference

22 September 2017

Hoogeveen AT

series ordinal

2

1 reference

22 September 2017

Verheijen FW

series ordinal

3

1 reference

22 September 2017

Galjaard H

series ordinal

4

1 reference

22 September 2017

language of work or name

English

0 references

publication date

1 February 1986

1 reference

American Journal of Human Genetics

22 September 2017

1 reference

22 September 2017

38

1 reference

22 September 2017

2

1 reference

22 September 2017

137-148

1 reference

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684753

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684753

GM1 gangliosidosis in skin fibroblast culture: enzymatic differences between types 1 and 2 and observations on a third variant

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684753

Human placental neuraminidase. Activation, stabilization and association with beta-galactosidase and its protective protein

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684753

Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684753

Sialidosis: a review of human neuraminidase deficiency

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684753

Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684753

Reversible binding of Pi by beef heart mitochondrial adenosine triphosphatase

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684753

Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684753

Complementation, cross correction, and drug correction studies of combined beta-galactosidase neuraminidase deficiency in human fibroblasts

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684753

GM1 ganglioside beta-galactosidase. A. Purification and studies of the enzyme from human liver

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684753

Prenatal diagnosis of sialidosis with combined neuraminidase and beta-galactosidase deficiency.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684753

Letter: Angiokeratoma corporis diffusum and lysosomal enzyme deficiency

17 June 2018

1 reference

12 December 2020

Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues

1 reference

12 December 2020

Purification of acid beta-galactosidase and acid neuraminidase from bovine testis: evidence for an enzyme complex

1 reference

12 December 2020

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

1 reference

12 December 2020

Combined sialidase (neuraminidase) and beta-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient

1 reference

12 December 2020

Identifiers

1 reference

22 September 2017

PubMed publication ID

3080874

1 reference