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Journal Article
Respiratory Medicine, ISSN 0954-6111, 07/2018, Volume 140, pp. 11 - 20
Pulmonary interstitial glycogenosis (PIG) is a rare paediatric interstitial lung disease of unknown cause. The diagnosis can only be made by lung biopsy. Less... 
Diffuse parenchymal lung disease | Infants | children's interstitial lung disease | Pulmonary interstitial glycogenosis | CARDIAC & CARDIOVASCULAR SYSTEMS | GLUCOCORTICOIDS | MANAGEMENT | RESPIRATORY-DISTRESS | CLASSIFICATION | TACHYPNEA | CHILDREN | PRIMARY CILIARY DYSKINESIA | RESPIRATORY SYSTEM | LUNG-DISEASE | HYPERTENSION | INFANCY | Glucocorticoids - administration & dosage | Lung - pathology | Drug Administration Schedule | Lung Diseases, Interstitial - pathology | Humans | Rare Diseases - drug therapy | Rare Diseases - diagnosis | Child, Preschool | Infant | Male | Tomography, X-Ray Computed | Gestational Age | Lung Diseases, Interstitial - drug therapy | Glycogen Storage Disease - pathology | Lung Diseases, Interstitial - diagnosis | Glycogen Storage Disease - drug therapy | Biopsy | Female | Rare Diseases - pathology | Registries | Retrospective Studies | Glycogen Storage Disease - diagnosis | Child | Medical research | Corticosteroids | Glycogen | Comorbidity | Analysis | Lung diseases | Medicine, Experimental | Congenital heart disease | Children | Diseases | Neonates | Pediatrics | Glucocorticoids | Mesenchyme | Abnormalities | Medical services | Surfactants | Patients | Children & youth | Studies | Histopathology | Glycogenosis | Cysts | Lungs | Computed tomography | Ventilation | Attenuation | Alveoli | Thickening
Journal Article
Best Practice & Research: Clinical Endocrinology & Metabolism, ISSN 1521-690X, 2015, Volume 29, Issue 2, pp. 183 - 194
Journal Article
Nature Biotechnology, ISSN 1087-0156, 12/2012, Volume 30, Issue 12, pp. 1225 - 1231
Lysosomal storage diseases are treated with human lysosomal enzymes produced in mammalian cells. Such enzyme therapeutics contain relatively low levels of... 
N-LINKED OLIGOSACCHARIDES | POMPE-DISEASE | YARROWIA-LIPOLYTICA | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MOUSE MODEL | STORAGE DISORDERS | ACID ALPHA-GLUCOSIDASE | PICHIA-PASTORIS | FABRY-DISEASE | SACCHAROMYCES-CEREVISIAE | MANNOSE 6-PHOSPHATE RECEPTORS | Biotechnology | Lysosomal Storage Diseases - enzymology | Glycoside Hydrolases - genetics | Humans | Lysosomes - enzymology | Molecular Sequence Data | Glycogen Storage Disease Type II - drug therapy | Pichia - enzymology | Glycogen Storage Disease Type II - enzymology | Arthrobacter - genetics | Biological Transport, Active | Lysosomal Storage Diseases - drug therapy | Glycoside Hydrolases - chemistry | Yarrowia - enzymology | Arthrobacter - enzymology | Yarrowia - genetics | Disease Models, Animal | Recombinant Proteins - metabolism | Mutagenesis, Site-Directed | Glycogen Storage Disease Type II - genetics | Bacterial Proteins - genetics | Catalytic Domain - genetics | Lysosomal Storage Diseases - genetics | Models, Molecular | Recombinant Proteins - genetics | Mice, Knockout | alpha-Glucosidases - genetics | Animals | Mannosephosphates - metabolism | alpha-Glucosidases - deficiency | Pichia - genetics | Bacterial Proteins - metabolism | Protein Conformation | Mice | Glycoside Hydrolases - metabolism | alpha-Glucosidases - metabolism | Physiological aspects | Lysosomes | Enzymes | Glycosidases | Bacteria | Biosynthesis | Biochemistry | Yeast | Metabolic disorders
Journal Article
Journal of Lipid Research, ISSN 0022-2275, 2017, Volume 58, Issue 8, pp. 1598 - 1612
Journal Article
Lancet, The, ISSN 0140-6736, 2008, Volume 372, Issue 9646, pp. 1342 - 1353
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2017, Volume 27, Issue 4, pp. 370 - 376
Journal Article
Nature Reviews Genetics, ISSN 1471-0056, 12/2002, Volume 3, Issue 12, pp. 954 - 966
Journal Article