(Q42605412)

3 November 2017

0 references

Mutations in PLA2G6 and the riddle of Schindler disease (English)

1 reference

3 November 2017

S K Westaway

1

1 reference

3 November 2017

A Gregory

series ordinal

2

1 reference

3 November 2017

S J Hayflick

series ordinal

3

1 reference

3 November 2017

language of work or name

English

0 references

publication date

1 January 2007

1 reference

Journal of Medical Genetics

3 November 2017

1 reference

3 November 2017

44

1 reference

3 November 2017

1

1 reference

3 November 2017

e64

1 reference

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

3 November 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597919

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype

27 May 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597919

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy

27 May 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597919

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?

27 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17209134

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17209134

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2006.044966

1 reference

3 November 2017

1 reference

3 November 2017

PubMed publication ID

17209134

1 reference