(Q40884162)

24 September 2017

Hermansky-Pudlak syndrome type 4 with interstitial pneumonia (English)

1 reference

Hermansky-Pudlak syndrome

24 September 2017

0 references

1 reference

Yoshihiko Sakata

1

1 reference

24 September 2017

Kodai Kawamura

2

1 reference

24 September 2017

Kazuya Ichikado

3

1 reference

24 September 2017

Moritaka Suga

4

1 reference

24 September 2017

Masakazu Yoshioka

5

1 reference

24 September 2017

3 June 2013

1 reference

Respiratory medicine case reports

24 September 2017

1 reference

24 September 2017

9

1 reference

24 September 2017

38-41

1 reference

RETRACTED: A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949545

Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949545

Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949545

Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949545

Pulmonary fibrosis in hermansky-pudlak syndrome. a case report and review

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949545

Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949545

Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949545

Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949545

Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949545

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949545

Albinism and Hermansky-Pudlak syndrome in Puerto Rico

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949545

Susceptibility of Hermansky-Pudlak mice to bleomycin-induced type II cell apoptosis and fibrosis.

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949545

Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949545

Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949545

Inflammatory response and cathepsins in silica-exposed Hermansky-Pudlak syndrome model pale ear mice

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949545

Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949545

Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949545

American Thoracic Society. Idiopathic pulmonary fibrosis: diagnosis and treatment. International consensus statement. American Thoracic Society (ATS), and the European Respiratory Society (ERS)

19 August 2018

1 reference

12 December 2020

Successful bilateral lung transplantation for pulmonary fibrosis associated with the Hermansky-Pudlak syndrome

1 reference

12 December 2020

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

1 reference

12 December 2020

Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)

1 reference

12 December 2020

10.1016/J.RMCR.2013.04.002

Identifiers

DOI

1 reference

24 September 2017

1 reference

24 September 2017

PubMed publication ID

26029628

1 reference