Mucolipidosis IV consists of one complementation group (Q35555861)

8 August 2017

Mucolipidosis IV consists of one complementation group (English)

1 reference

8 August 2017

Goldin E

1

1 reference

8 August 2017

Cooney A

2

1 reference

8 August 2017

Kaneski CR

3

1 reference

8 August 2017

Brady RO

4

1 reference

8 August 2017

Schiffmann R

5

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 July 1999

1 reference

Proceedings of the National Academy of Sciences of the United States of America

8 August 2017

1 reference

8 August 2017

96

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8 August 2017

15

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8 August 2017

8562-8566

1 reference

Protein measurement with the Folin phenol reagent

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17556

Constitutive achlorhydria in mucolipidosis type IV

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17556

Pyloric antral inhibition of gastrin release

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17556

Chloroquine: mechanism of drug action and resistance in Plasmodium falciparum

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17556

Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17556

Commentary. Lysosomotropic agents

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17556

A method for enrichment of hybrid somatic cells: complementation studies in certain lysosomal enzymopathies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17556

The role of lysosomal enzymes in killing of mammalian cells by the lysosomotropic detergent N-dodecylimidazole

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17556

Current concepts and new ideas on the mechanism of action of quinoline-containing antimalarials

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17556

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17556

Mucolipidosis type IV: clinical spectrum and natural history.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17556

Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transport

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17556

Prenatal diagnosis of mucolipidosis IV by electron microscopy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17556

Ultrastructure of Cultured Fibroblasts in Mucolipidosis Type IV

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17556

Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17556

Inhibition of proteolytic degradation of low density lipoprotein in human fibroblasts by chloroquine, concanavalin A, and Triton WR 1339

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17556

Mucolipidosis type IV: characteristic MRI findings.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17556

Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10411915

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.96.15.8562

1 reference

8 August 2017

0 references

1 reference

8 August 2017

1 reference