TY  -  
T1  - Restriction of lung volumes but normal function of pulmonary tissue in mulibrey nanism 
SN  -  /  
UR  - http://hdl.handle.net/10138/319700 
T3  -  
A1  - Sivunen, Johanna; Piirila, Paivi; Karlberg, Susann; Kajosaari, Merja; Valmari, Pekka; Kupari, Markku; Lipsanen-Nyman, Marita; Jalanko, Hannu; Sovijarvi, Anssi R. A. 
A2  -  
PB  -  
Y1  - 2019 
LA  - eng 
AB  - Background Mulibrey nanism (MUL) is a rare growth restriction disorder with multiple organ manifestations caused by genetic defects affecting the TRIM37 protein. A perimyocardial heart disease is the most serious manifestation. Many MUL children appear to suffer from airway obstruction related to infection or exercise, prompting use of inhaled therapies. Asthma medication is continued up to adolescence or even to adulthood due to persisting of symptoms. The pulmonary pathophysiology has previous... 
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KW  - lung function; MUL; TRIM37; NATRIURETIC PEPTIDE; FUNCTION TESTS; HEART-FAILURE; LEG LENGTH; CHILDREN; NONSMOKING; DIAGNOSIS; CAPACITY; HEIGHT; BNP; 3123 Gynaecology and paediatrics; 3121 General medicine, internal medicine and other clinical medicine 
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