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ArticlesPeer ReviewedFull Text
Genotype-Phenotype Correlations for Infants and Children with ABCA3 Deficiency
Author / Creator:WAMBACH, Jennifer A ; CASEY, Alicia M ; FISHMAN, Martha P ; WEGNER, Daniel J ; WERT, Susan E ; COLE, F. Sessions ; HAMVAS, Aaron ; NOGEE, Lawrence M
Publisher:New York, NY: American Thoracic Society
Journal title:American journal of respiratory and critical care medicine, 2014-06, Vol.189 (12), p.1538-1543
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ArticlesPeer ReviewedFull Text
ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine
Author / Creator:Yang, Xiaohua ; Forstner, Maria ; Rapp, Christina K ; Rothenaigner, Ina ; Li, Yang ; Hadian, Kamyar ; Griese, Matthias
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-05, Vol.24 (9), p.8179
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ArticlesPeer ReviewedFull Text
Hydroxychloroquine, a successful treatment for lung disease in ABCA3 deficiency gene mutation: a case report
Author / Creator:Shaaban, Waleed ; Hammoud, Majeda ; Abdulraheem, Ali ; Elsayed, Yasser Yahia ; Alkazemi, Nawal
Publisher:England: BioMed Central Ltd
Journal title:Journal of medical case reports, 2021-02, Vol.15 (1), p.54-54, Article 54
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ArticlesPeer ReviewedFull Text
Alteration of the Pulmonary Surfactant System in Full-Term Infants with Hereditary ABCA3 Deficiency
Author / Creator:Brasch, Frank ; Schimanski, Sven ; Muhlfeld, Christian ; Barlage, Stefan ; Langmann, Thomas ; Aslanidis, Charalampos ; Boettcher, Alfred ; Dada, Ashraf ; Schroten, Horst ; Mildenberger, Eva ; Prueter, Eric ; Ballmann, Manfred ; Ochs, Matthias ; Johnen, Georg ; Griese, Matthias ; Schmitz, Gerd
Publisher:New York, NY: Am Thoracic Soc
Journal title:American journal of respiratory and critical care medicine, 2006-09, Vol.174 (5), p.571-580
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ArticlesPeer ReviewedFull Text
ABCA3 deficiency from birth to adulthood presenting as paediatric interstitial lung disease
Author / Creator:Cho, Jin‐Gun ; Thakkar, Devesh ; Buchanan, Peter ; Graf, Nicole ; Wheatley, John
Publisher:Chichester, UK: John Wiley & Sons, Ltd
Journal title:Respirology case reports, 2020-10, Vol.8 (7), p.e00633-n/a
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ArticlesFull Text
Research on Antimalarial Agents Described by Researchers at University of Munich (ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2023-06, p.3435
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ArticlesFull Text
Reports from Washington University Add New Data to Findings in Pediatric Pulmonology (Biologic Characterization of Abca3 Variants In Lung Tissue From Infants and Children With Abca3 Deficiency)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2022-04, p.554
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ReportsFull Text
ABCA3 deficiency from birth to adulthood presenting as paediatric interstitial lung disease
Author / Creator:Cho, Jin-Gun ; Thakkar, Devesh ; Buchanan, Peter ; Graf, Nicole ; Wheatley, John
Journal title:Respirology case reports, 2020, Vol.8 (7), p.e00633-e00633
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Newsletter articlesFull Text
University of Munich Reports Findings in Health and Medicine (Cyclosporine A in children with ABCA3 deficiency)
Publisher:NewsRX LLC
Journal title:Pediatrics Week, 2024, p.498
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Newsletter articlesFull Text
Health and Medicine; Findings on Respiratory Medicine Reported by Investigators at Johns Hopkins University (Genotype-Phenotype Correlations for Infants and Children with ABCA3 Deficiency)
Publisher:Atlanta: NewsRx
Journal title:Pediatrics Week, 2014, p.136
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Newsletter articlesFull Text
Findings on Respiratory Medicine Reported by Investigators at Johns Hopkins University (Genotype-Phenotype Correlations for Infants and Children with ABCA3 Deficiency)
Publisher:NewsRX LLC
Journal title:Pediatrics Week, 2014, p.136
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ArticlesPeer ReviewedFull Text
Lung disease caused by ABCA3 mutations
Author / Creator:Kröner, Carolin ; Wittmann, Thomas ; Reu, Simone ; Teusch, Veronika ; Klemme, Mathias ; Rauch, Daniela ; Hengst, Meike ; Kappler, Matthias ; Cobanoglu, Nazan ; Sismanlar, Tugba ; Aslan, Ayse T ; Campo, Ilaria ; Proesmans, Marijke ; Schaible, Thomas ; Terheggen-Lagro, Susanne ; Regamey, Nicolas ; Eber, Ernst ; Seidenberg, Jürgen ; Schwerk, Nicolaus ; Aslanidis, Charalampos ; Lohse, Peter ; Brasch, Frank ; Zarbock, Ralf ; Griese, Matthias
Publisher:England: BMJ Publishing Group LTD
Journal title:Thorax, 2017-03, Vol.72 (3), p.213-220
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ArticlesPeer ReviewedFull Text
ABCA3-related interstitial lung disease beyond infancy
Author / Creator:Li, Yang ; Seidl, Elias ; Knoflach, Katrin ; Gothe, Florian ; Forstner, Maria Elisabeth ; Michel, Katarzyna ; Pawlita, Ingo ; Gesenhues, Florian ; Sattler, Franziska ; Yang, Xiaohua ; Kroener, Carolin ; Reu-Hofer, Simone ; Ley-Zaporozhan, Julia ; Kammer, Birgit ; Krüger-Stollfuß, Ingrid ; Dinkel, Julien ; Carlens, Julia ; Wetzke, Martin ; Moreno-Galdó, Antonio ; Torrent-Vernetta, Alba ; Lange, Joanna ; Krenke, Katarzyna ; Rumman, Nisreen ; Mayell, Sarah ; Sismanlar, Tugba ; Aslan, Ayse ; Regamey, Nicolas ; Proesmans, Marijke ; Stehling, Florian ; Naehrlich, Lutz ; Ayse, Kilinc ; Becker, Sebastian ; Koerner-Rettberg, Cordula ; Plattner, Erika ; Manali, Effrosyni D ; Papiris, Spyridon A ; Campo, Ilaria ; Kappler, Matthias ; Schwerk, Nicolaus ; Griese, Matthias
Publisher:England: BMJ Publishing Group Ltd and British Thoracic Society
Journal title:Thorax, 2023-06, Vol.78 (6), p.587-595
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ArticlesPeer ReviewedFull Text
Surfactant dysfunction disorder masquerading as meconium aspiration syndrome and persistent pulmonary hypertension of the newborn
Author / Creator:Gupta, Shelly ; Agrawal, Gopal ; Balde, Manish ; Wazir, Sanjay
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2021-01, Vol.14 (1), p.e239169
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ArticlesPeer ReviewedFull Text
Different course of lung disease in two siblings with novel ABCA3 mutations
Author / Creator:Hallik, Maarja ; Annilo, Tarmo ; Ilmoja, Mari-Liis
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2014-12, Vol.173 (12), p.1553-1556
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ArticlesPeer ReviewedFull Text
Ultrastructural and molecular analysis in fatal neonatal interstitial pneumonia caused by a novel ABCA3 mutation
Author / Creator:Bruder, Elisabeth ; Hofmeister, Jörg ; Aslanidis, Charalampos ; Hammer, Jürg ; Bubendorf, Lukas ; Schmitz, Gerd ; Rufle, Alex ; Bührer, Christoph
Publisher:New York: Nature Publishing Group US
Journal title:Modern pathology, 2007-10, Vol.20 (10), p.1009-1018
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ArticlesPeer ReviewedFull Text
Childhood Interstitial Lung Disease Masquerading as Post COVID-19 Respiratory Distress
Author / Creator:Yavuz, Sinan ; Alsamhouri, Ronda ; Francis, Nader
Publisher:Palo Alto: Cureus Inc
Journal title:Cureus, 2021-11, Vol.13 (11), p.e20061-e20061
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ArticlesPeer ReviewedFull Text
Galvanised by a respiratory distress diagnosis
Author / Creator:Abdel-Latif, M E ; Oei, J ; Ward, M ; Wills, E J ; Tobias, V ; Lui, K
Publisher:England: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood. Education and practice edition, 2008-08, Vol.93 (4), p.112-119
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ArticlesPeer ReviewedFull Text
Genetic Disorders of Surfactant Proteins
Author / Creator:Hamvas, Aaron ; Cole, F. Sessions ; Nogee, Lawrence M.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Neonatology (Basel, Switzerland), 2007-01, Vol.91 (4), p.311-317
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Genotype-Phenotype Correlations for Infants and Children with ABCA3 Deficiency

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ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine

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Hydroxychloroquine, a successful treatment for lung disease in ABCA3 deficiency gene mutation: a case report

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Alteration of the Pulmonary Surfactant System in Full-Term Infants with Hereditary ABCA3 Deficiency

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ABCA3 deficiency from birth to adulthood presenting as paediatric interstitial lung disease

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Research on Antimalarial Agents Described by Researchers at University of Munich (ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine)

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Reports from Washington University Add New Data to Findings in Pediatric Pulmonology (Biologic Characterization of Abca3 Variants In Lung Tissue From Infants and Children With Abca3 Deficiency)

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ABCA3 deficiency from birth to adulthood presenting as paediatric interstitial lung disease

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University of Munich Reports Findings in Health and Medicine (Cyclosporine A in children with ABCA3 deficiency)

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Health and Medicine; Findings on Respiratory Medicine Reported by Investigators at Johns Hopkins University (Genotype-Phenotype Correlations for Infants and Children with ABCA3 Deficiency)

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Findings on Respiratory Medicine Reported by Investigators at Johns Hopkins University (Genotype-Phenotype Correlations for Infants and Children with ABCA3 Deficiency)

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Lung disease caused by ABCA3 mutations

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ABCA3-related interstitial lung disease beyond infancy

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Surfactant dysfunction disorder masquerading as meconium aspiration syndrome and persistent pulmonary hypertension of the newborn

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Different course of lung disease in two siblings with novel ABCA3 mutations

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Ultrastructural and molecular analysis in fatal neonatal interstitial pneumonia caused by a novel ABCA3 mutation

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Childhood Interstitial Lung Disease Masquerading as Post COVID-19 Respiratory Distress

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Galvanised by a respiratory distress diagnosis

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Genetic Disorders of Surfactant Proteins

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