(Q30421698)

20 August 2017

Auditory phenotype of Niemann-Pick disease, type C1. (English)

1 reference

20 August 2017

1 reference

1 reference

2

Sandra Gordon-Salant

1 reference

20 August 2017

Kelly A King

1

1 reference

20 August 2017

Nicole Yanjanin

3

1 reference

20 August 2017

Christopher Zalewski

4

1 reference

20 August 2017

Ari Houser

5

1 reference

20 August 2017

Forbes D Porter

6

1 reference

20 August 2017

Carmen C Brewer

7

1 reference

20 August 2017

1 January 2014

1 reference

20 August 2017

1 reference

20 August 2017

35

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20 August 2017

1

1 reference

20 August 2017

110-117

1 reference

Weekly cyclodextrin administration normalizes cholesterol metabolism in nearly every organ of the Niemann-Pick type C1 mouse and markedly prolongs life.

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

2-hydroxypropyl-beta-cyclodextrin raises hearing threshold in normal cats and in cats with Niemann-Pick type C disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

NPC-db, a Niemann-Pick type C disease gene variation database

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

Cellular pathology of Niemann-Pick type C disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

Niemann-Pick disease type C.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

Understanding Niemann-Pick type C disease: a fat problem

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

Identification of HE1 as the second gene of Niemann-Pick C disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

An improved procedure for assessing ABR latency in young subjects based on a new normative data set.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

Brain stem auditory evoked potentials in two siblings with Niemann-Pick disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

Clinical spectrum of Niemann-Pick disease type C.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

Acoustic reflex thresholds in normal and cochlear-impaired ears: effects of no-response rates on 90th percentiles in a large sample.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

Audiologic profile in Niemann-Pick C.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

A clinical staging classification for type C Niemann-Pick disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

The effect of sound pressure waveform on human brain stem auditory evoked responses

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

The National Niemann-Pick C1 disease database: report of clinical features and health problems.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

Multiple auditory steady-state responses in children and adults with normal hearing, sensorineural hearing loss, or auditory neuropathy.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

Uses and abuses of hearing loss classification.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895917

Screening tympanometry: criteria for medical referral

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24225652

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Low density lipoprotein (LDL)-mediated suppression of cholesterol synthesis and LDL uptake is defective in Niemann-Pick type C fibroblasts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24225652

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Auditory brain stem responses in preterm infants: evidence of peripheral maturity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24225652

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1097/AUD.0B013E3182A362B8

1 reference

20 August 2017

1 reference

20 August 2017

1 reference