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Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 09/2019, Volume 42, Issue 5, pp. 870 - 877
Very‐long chain acyl‐CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an autosomal recessive disorder of fatty acid oxidation. Fatty acids are a major source... 
very long chain acyl‐CoA deficiency | AAV9 gene therapy | respiratory insufficiency | MEDICINE, RESEARCH & EXPERIMENTAL | COENZYME | very long chain acyl-CoA deficiency | STIMULATION | COACTIVATION | DISORDERS | RETRACTOR MUSCLES | DISEASE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | VLCAD DEFICIENCY | MICE | TONGUE PROTRUDOR
Journal Article
Journal Article
Clinical ophthalmology (Auckland, N.Z.), ISSN 1177-5467, 2018, Volume 12, pp. 791 - 797
The aim of this study was to compare intraocular pressure (IOP) outcomes in eyes with cataract and glaucoma undergoing phacoemulsification (phaco) in... 
Glaucoma | Cataract | Care and treatment | Comparative analysis | Surgery | Cataracts | Surgeons | Ophthalmology | Eye surgery | Investigations | intraocular pressure | glaucoma | goniotomy
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2018, Volume 115, Issue 11, pp. 2788 - 2793
Chronic obstructive pulmonary disease affects 10% of the worldwide population, and the leading genetic cause is alpha-1 antitrypsin (AAT) deficiency. Due to... 
CRISPR | Mouse model | Alpha-1 antitrypsin | Emphysema | Serpina1 | alpha-1 antitrypsin | LUNG | OFF-TARGET SITES | HUMAN-DISEASE | mouse model | ALPHA-ANTITRYPSIN DEFICIENCY | MULTIDISCIPLINARY SCIENCES | emphysema | INDIVIDUALS | PATTERN | ALPHA-1-ANTITRYPSIN DEFICIENCY | EXPRESSION | OCCUPATIONAL-EXPOSURE | Genetic aspects | Gene expression | Observations | Emphysema, Pulmonary | Biological Sciences
Journal Article
American Journal of Physiology - Lung Cellular and Molecular Physiology, ISSN 1040-0605, 2017, Volume 312, Issue 6, pp. L873 - L881
Journal Article