(Q41780357)

9 October 2017

0 references

Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism (English)

1 reference

9 October 2017

1 reference

Takanobu Otomo

1

1 reference

9 October 2017

Takehisa Yamamoto

2

1 reference

9 October 2017

Yasuhiro Fujikawa

3

1 reference

9 October 2017

Tsunesuke Shimotsuji

4

1 reference

9 October 2017

Keiichi Ozono

5

1 reference

9 October 2017

1 January 2011

1 reference

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

9 October 2017

1 reference

9 October 2017

20

1 reference

9 October 2017

1

1 reference

9 October 2017

7-12

1 reference

The natural history and osteodystrophy of mucolipidosis types II and III

9 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687631

Molecular and cellular basis of lysosomal transmembrane protein dysfunction

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687631

Sorting of lysosomal proteins

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687631

Autophagy: a lysosomal degradation pathway with a central role in health and disease

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687631

Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687631

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687631

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687631

The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687631

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687631

Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687631

Lumbar bone mineral content measured by dual energy X‐ray absorptiometry in newborns and infants

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687631

Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687631

Hyperparathyroidism secondary to maternal hypoparathyroidism and vitamin D deficiency: an uncommon cause of neonatal respiratory distress.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687631

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687631

The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687631

Study of the bone pathology in early mucolipidosis II (I-cell disease)

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23926388

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prostaglandin E1-induced hyperostosis: clinicopathologic correlations and possible pathogenetic mechanisms

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23926388

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mucolipidosis II presenting as severe neonatal hyperparathyroidism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23926388

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1297/CPE.20.7

1 reference

9 October 2017

1 reference

9 October 2017

PubMed publication ID

23926388

1 reference