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Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 40 - 40
Journal Article
Pediatric Pulmonology, ISSN 8755-6863, 05/2008, Volume 43, Issue 5, pp. 451 - 456
Journal Article
Thorax, ISSN 0040-6376, 08/2018, Volume 73, Issue 8, pp. 788 - 790
There are several possible causes; the likeliest diagnosis is spinal muscular atrophy with respiratory distress type 1 (SMARD1), and the differential diagnosis... 
paediatric lung disease | rare lung disease | respiratory muscles | assisted ventilation | SPINAL MUSCULAR-ATROPHY | RESPIRATORY SYSTEM | Ventilators | Neuromuscular diseases | Congenital diseases | Disease | Quality of life | Children & youth | Abdomen | Parents & parenting | Ostomy | Medical prognosis | Electromyography | Paralysis | Mutation | Chromosomes | Age | Index Medicus
Journal Article
Journal Article
Journal Article
Lung, ISSN 0341-2040, 4/2018, Volume 196, Issue 2, pp. 231 - 238
Primary ciliary dyskinesia (PCD) is characterised by repeated upper and lower respiratory tract infections, neutrophilic airway inflammation and obstructive... 
Ciliopathy | Pneumology/Respiratory System | Lung function | Medicine & Public Health | Rare disease | Paediatrics | DIAGNOSIS | MANAGEMENT | PHENOTYPE | SPIROMETRY | COMPUTED-TOMOGRAPHY | MULTIPLE | CHILDREN | INERT-GAS WASHOUT | RESPIRATORY SYSTEM | DISEASE | CYSTIC-FIBROSIS | Spirometry | Ciliary Motility Disorders - physiopathology | Age Factors | Humans | Child, Preschool | Infant | Male | Lung Diseases - etiology | Forced Expiratory Volume | Young Adult | Ciliary Motility Disorders - complications | Microtubules - ultrastructure | Cilia - ultrastructure | Lung - ultrastructure | Adult | Female | Child | Infant, Newborn | Microscopy, Electron, Transmission | Risk Factors | Mucociliary Clearance | Lung - physiopathology | Ciliary Motility Disorders - pathology | Adolescent | Lung Diseases - physiopathology | Lung Diseases - pathology | Maximal Midexpiratory Flow Rate | Ciliary Motility Disorders - genetics | Respiratory tract infections | Complications and side effects | Care and treatment | Research | Diagnosis | Movement disorders | Risk factors | Respiratory function | Lung | Lung diseases | Health risks | Leukocytes (neutrophilic) | Minority & ethnic groups | Disease control | Patients | Genetic screening | Defects | Respiratory tract | Primary ciliary dyskinesia | Ultrastructure | Obstructive lung disease | Dynein | Ventilation | Respiratory tract diseases | Pseudomonas aeruginosa | Inhomogeneity | Health risk assessment | Risk management | Age | Dyskinesia | Cilia | Index Medicus | Respiratory Physiology
Journal Article
Atemwegs- und Lungenkrankheiten, ISSN 0341-3055, 07/2011, Volume 37, Issue 7, pp. 275 - 279
Journal Article