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Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease

Tadafumi Yokoyama, Bernadette R. Gochuico
European Respiratory Review 2021 30: 200193; DOI: 10.1183/16000617.0193-2020
Tadafumi Yokoyama
1Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
2Dept of Pediatrics, Kanazawa University, Kanazawa, Japan
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Bernadette R. Gochuico
1Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
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  • For correspondence: gochuicb@mail.nih.gov
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Article Information

vol. 30 no. 159
DOI 
https://doi.org/10.1183/16000617.0193-2020
PubMed 
33536261

Published By 
European Respiratory Society
Print ISSN 
0905-9180
Online ISSN 
1600-0617
History 
  • Received June 11, 2020
  • Accepted July 6, 2020
  • Published online February 2, 2021.

Copyright & Usage 
The content of this work is not subject to copyright. Design and branding are copyright ©ERS 2021. This version is distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.

Author Information

  1. Tadafumi Yokoyama1,2 and
  2. Bernadette R. Gochuico1⇑
  1. 1Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
  2. 2Dept of Pediatrics, Kanazawa University, Kanazawa, Japan
  1. Bernadette R. Gochuico, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Bethesda, MD 20892-1851, USA. E-mail: gochuicb{at}mail.nih.gov
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Funding

  • Intramural Research Program, National Human Genome Research Institute

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Vol 30 Issue 159 Table of Contents
European Respiratory Review: 30 (159)
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Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease
Tadafumi Yokoyama, Bernadette R. Gochuico
European Respiratory Review Mar 2021, 30 (159) 200193; DOI: 10.1183/16000617.0193-2020

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Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease
Tadafumi Yokoyama, Bernadette R. Gochuico
European Respiratory Review Mar 2021, 30 (159) 200193; DOI: 10.1183/16000617.0193-2020
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  • Article
    • Abstract
    • Abstract
    • Introduction
    • Genetics of HPS pulmonary fibrosis
    • Pathobiology of HPS
    • Clinical features of HPS pulmonary fibrosis
    • Diagnosis, management and treatment of HPS pulmonary fibrosis
    • Conclusions
    • Acknowledgements
    • Footnotes
    • References
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  • Info & Metrics
  • PDF

Subjects

  • Genetics
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More in this TOC Section

Series

  • The oesophageal balloon for respiratory monitoring in ventilated patients
  • QoL in patients with chronic respiratory failure on HMV
  • Awake prone positioning in acute hypoxaemic respiratory failure
Show more Series

Rare genetic interstitial lung diseases

  • The oesophageal balloon for respiratory monitoring in ventilated patients
  • QoL in patients with chronic respiratory failure on HMV
  • Awake prone positioning in acute hypoxaemic respiratory failure
Show more Rare genetic interstitial lung diseases

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