ABCMdb

PMID: 19277125

Scambi C, De Franceschi L, Guarini P, Poli F, Siciliano A, Pattini P, Biondani A, La Verde V, Bortolami O, Turrini F, Carta F, D'Orazio C, Assael BM, Faccini G, Bambara LM
Preliminary evidence for cell membrane amelioration in children with cystic fibrosis by 5-MTHF and vitamin B12 supplementation: a single arm trial.
PLoS One. 2009;4(3):e4782. Epub 2009 Mar 11., [PubMed]

Sentences

No. Mutations Sentence Comment

73 ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Gln552* Patient Gender Age (yr) CFTR mutations BMI (kg/m2) FEV1 (%) Pancreatic sufficiency M.o. in sputum Antibiotic treatment 1 M 8 DF508/DF508 17,29 81 no no no 2 F 7 DF508/DF508 21,7 101 no P. aeruginosa C azithromycin p.o. tobramycin neb. 3 F 6 DI507/711+5G A 22,5 91 no no no 4 F 5 DF508/not identified 15,2 NA no no no 5 M 8 DF508/DF508 15,4 92 no no no 6 M 7 N1303K/2789+5G A 19,2 73 no no no 7 F 7 DF508/621+1G T 15,1 82 no S. aureus no 8 F 8 DF508/1717-1G T 18,3 91 no S. aureus no 9 F 8 DF508/not identified 21,2 95 yes no no 10 F 7 DF508/2789+5G A 14,4 93 no no no 11 M 8 DF508/2789+5G A 15,9 106 yes no no 12 F 7 R1162X/R1162X 17,15 78 no S. aureus no 13 M 8 DF508/not identified 15,2 63 no no no 14 M 6 DF508/DF508 17,1 115 no P. aeruginosa I ciprofloxacin p.o. tobramycin neb. 15 F 8 DF508/R1162X 14 49 no P. aeruginosa C azithromycin p.o. tobramycin neb. 16 M 5 G542/1717-1G A 16,5 NA no no No 17 F 5 DF508/not identified 13,3 NA no P. aeruginosa I ciprofloxacin p.o. tobramycin neb. 18 M 4 DF508/G542X 15,7 NA no no no 19 F 7 DI507/R1162X 16,5 94 no no no 20 F 4 DF508/Q552X 13,5 NA no no no 21 M 8 DF508/R1162X 13,8 78 no no no 22 F 6 2183AA G/N1303K 16,8 102 no no no P.: Pseudomonas; S.: Staphylococcus; H.: Haemophilus; C: chronic colonization; I: intermittent colonization; NA: not applicable; p.o.: per os; neb.: nebulized. Login to comment