Etiology
Efremova I,
Maslennikov R,
Poluektova E,
Vasilieva E,
Zharikov Y,
Suslov A,
Letyagina Y,
Kozlov E,
Levshina A,
Ivashkin V
World J Gastroenterol
2023 Jun 14;29(22):3400-3421.
doi: 10.3748/wjg.v29.i22.3400.
PMID: 37389240Free PMC Article
Gana S,
Serpieri V,
Valente EM
Am J Med Genet C Semin Med Genet
2022 Mar;190(1):72-88.
Epub 2022 Mar 3
doi: 10.1002/ajmg.c.31963.
PMID: 35238134Free PMC Article
Larson-Nath C,
Goday P
Nutr Clin Pract
2019 Jun;34(3):349-358.
Epub 2019 Apr 8
doi: 10.1002/ncp.10274.
PMID: 30963628
Capurso L
J Clin Gastroenterol
2019 Mar;53 Suppl 1:S1-S41.
doi: 10.1097/MCG.0000000000001170.
PMID: 30741841
Bachmann-Gagescu R,
Dempsey JC,
Phelps IG,
O'Roak BJ,
Knutzen DM,
Rue TC,
Ishak GE,
Isabella CR,
Gorden N,
Adkins J,
Boyle EA,
de Lacy N,
O'Day D,
Alswaid A,
Ramadevi A R,
Lingappa L,
Lourenço C,
Martorell L,
Garcia-Cazorla À,
Ozyürek H,
Haliloğlu G,
Tuysuz B,
Topçu M;
University of Washington Center for Mendelian Genomics,
Chance P,
Parisi MA,
Glass IA,
Shendure J,
Doherty D
J Med Genet
2015 Aug;52(8):514-22.
Epub 2015 Jun 19
doi: 10.1136/jmedgenet-2015-103087.
PMID: 26092869Free PMC Article
Diagnosis
Sellers ZM,
Assis DN,
Paranjape SM,
Sathe M,
Bodewes F,
Bowen M,
Cipolli M,
Debray D,
Green N,
Hughan KS,
Hunt WR,
Leey J,
Ling SC,
Morelli G,
Peckham D,
Pettit RS,
Philbrick A,
Stoll J,
Vavrina K,
Allen S,
Goodwin T,
Hempstead SE,
Narkewicz MR
Hepatology
2024 May 1;79(5):1220-1238.
Epub 2023 Oct 26
doi: 10.1097/HEP.0000000000000646.
PMID: 37934656Free PMC Article
Gana S,
Serpieri V,
Valente EM
Am J Med Genet C Semin Med Genet
2022 Mar;190(1):72-88.
Epub 2022 Mar 3
doi: 10.1002/ajmg.c.31963.
PMID: 35238134Free PMC Article
Goggolidou P,
Richards T
Biochim Biophys Acta Mol Basis Dis
2022 Apr 1;1868(4):166348.
Epub 2022 Jan 12
doi: 10.1016/j.bbadis.2022.166348.
PMID: 35032595
Larson-Nath C,
Goday P
Nutr Clin Pract
2019 Jun;34(3):349-358.
Epub 2019 Apr 8
doi: 10.1002/ncp.10274.
PMID: 30963628
Bachmann-Gagescu R,
Dempsey JC,
Phelps IG,
O'Roak BJ,
Knutzen DM,
Rue TC,
Ishak GE,
Isabella CR,
Gorden N,
Adkins J,
Boyle EA,
de Lacy N,
O'Day D,
Alswaid A,
Ramadevi A R,
Lingappa L,
Lourenço C,
Martorell L,
Garcia-Cazorla À,
Ozyürek H,
Haliloğlu G,
Tuysuz B,
Topçu M;
University of Washington Center for Mendelian Genomics,
Chance P,
Parisi MA,
Glass IA,
Shendure J,
Doherty D
J Med Genet
2015 Aug;52(8):514-22.
Epub 2015 Jun 19
doi: 10.1136/jmedgenet-2015-103087.
PMID: 26092869Free PMC Article
Therapy
Colombo C,
Alicandro G,
Oliver M,
Lewindon PJ,
Ramm GA,
Ooi CY,
Alghisi F,
Kashirskaya N,
Kondratyeva E,
Corti F,
Padoan R,
Asherova I,
Evans H,
de Monestrol I,
Strandvik B,
Lindblad A;
CF UDCA study group
J Cyst Fibros
2022 Mar;21(2):220-226.
Epub 2021 Apr 2
doi: 10.1016/j.jcf.2021.03.014.
PMID: 33814323
Wasuwanich P,
Karnsakul W
Minerva Pediatr
2020 Oct;72(5):440-447.
Epub 2020 May 15
doi: 10.23736/S0026-4946.20.05895-8.
PMID: 32418413
Mallea J,
Bolan C,
Cortese C,
Harnois D
Liver Transpl
2019 Aug;25(8):1265-1275.
Epub 2019 Jun 25
doi: 10.1002/lt.25496.
PMID: 31102574
Capurso L
J Clin Gastroenterol
2019 Mar;53 Suppl 1:S1-S41.
doi: 10.1097/MCG.0000000000001170.
PMID: 30741841
Tojo R,
Suárez A,
Clemente MG,
de los Reyes-Gavilán CG,
Margolles A,
Gueimonde M,
Ruas-Madiedo P
World J Gastroenterol
2014 Nov 7;20(41):15163-76.
doi: 10.3748/wjg.v20.i41.15163.
PMID: 25386066Free PMC Article
Prognosis
Efremova I,
Maslennikov R,
Poluektova E,
Vasilieva E,
Zharikov Y,
Suslov A,
Letyagina Y,
Kozlov E,
Levshina A,
Ivashkin V
World J Gastroenterol
2023 Jun 14;29(22):3400-3421.
doi: 10.3748/wjg.v29.i22.3400.
PMID: 37389240Free PMC Article
Gana S,
Serpieri V,
Valente EM
Am J Med Genet C Semin Med Genet
2022 Mar;190(1):72-88.
Epub 2022 Mar 3
doi: 10.1002/ajmg.c.31963.
PMID: 35238134Free PMC Article
Goggolidou P,
Richards T
Biochim Biophys Acta Mol Basis Dis
2022 Apr 1;1868(4):166348.
Epub 2022 Jan 12
doi: 10.1016/j.bbadis.2022.166348.
PMID: 35032595
Wasuwanich P,
Karnsakul W
Minerva Pediatr
2020 Oct;72(5):440-447.
Epub 2020 May 15
doi: 10.23736/S0026-4946.20.05895-8.
PMID: 32418413
Leeuwen L,
Fitzgerald DA,
Gaskin KJ
Paediatr Respir Rev
2014 Mar;15(1):69-74.
Epub 2013 Jun 14
doi: 10.1016/j.prrv.2013.05.001.
PMID: 23769887
Clinical prediction guides
Bergman M,
Manco M,
Satman I,
Chan J,
Schmidt MI,
Sesti G,
Vanessa Fiorentino T,
Abdul-Ghani M,
Jagannathan R,
Kumar Thyparambil Aravindakshan P,
Gabriel R,
Mohan V,
Buysschaert M,
Bennakhi A,
Pascal Kengne A,
Dorcely B,
Nilsson PM,
Tuomi T,
Battelino T,
Hussain A,
Ceriello A,
Tuomilehto J
Diabetes Res Clin Pract
2024 Mar;209:111589.
Epub 2024 Mar 7
doi: 10.1016/j.diabres.2024.111589.
PMID: 38458916
Colombo C,
Alicandro G,
Oliver M,
Lewindon PJ,
Ramm GA,
Ooi CY,
Alghisi F,
Kashirskaya N,
Kondratyeva E,
Corti F,
Padoan R,
Asherova I,
Evans H,
de Monestrol I,
Strandvik B,
Lindblad A;
CF UDCA study group
J Cyst Fibros
2022 Mar;21(2):220-226.
Epub 2021 Apr 2
doi: 10.1016/j.jcf.2021.03.014.
PMID: 33814323
Bachmann-Gagescu R,
Dempsey JC,
Phelps IG,
O'Roak BJ,
Knutzen DM,
Rue TC,
Ishak GE,
Isabella CR,
Gorden N,
Adkins J,
Boyle EA,
de Lacy N,
O'Day D,
Alswaid A,
Ramadevi A R,
Lingappa L,
Lourenço C,
Martorell L,
Garcia-Cazorla À,
Ozyürek H,
Haliloğlu G,
Tuysuz B,
Topçu M;
University of Washington Center for Mendelian Genomics,
Chance P,
Parisi MA,
Glass IA,
Shendure J,
Doherty D
J Med Genet
2015 Aug;52(8):514-22.
Epub 2015 Jun 19
doi: 10.1136/jmedgenet-2015-103087.
PMID: 26092869Free PMC Article
Colombo C,
Russo MC,
Zazzeron L,
Romano G
J Pediatr Gastroenterol Nutr
2006 Jul;43 Suppl 1:S49-55.
doi: 10.1097/01.mpg.0000226390.02355.52.
PMID: 16819402
Dennis CM,
McNeil KD,
Dunning J,
Stewart S,
Friend PJ,
Alexander G,
Higenbottam TW,
Calne RY,
Wallwork J
J Heart Lung Transplant
1996 May;15(5):536-8.
PMID: 8771510