Research & Literature

Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3 (-) secretion revealed by disease causing human mutation.

Hong JH, Muhammad E, Zheng C, et al.

The Journal of physiology 2015; (593(24)):5299-312 doi:10.1113/JP271378.

Governing effect of regulatory proteins for Cl(-)/HCO3(-) exchanger 2 activity.

Jeong YS, Hong JH

Channels (Austin, Tex.) 2016; (10(3)):214-24 doi:10.1080/19336950.2015.1134068.

Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.

Lee M, Vecchio-Pagán B, Sharma N, et al.

Human molecular genetics 2016; (25(10)):1923-1933 doi:10.1093/hmg/ddw065.

Diagnosis of Cystic Fibrosis in Nonscreened Populations.

Sosnay PR, White TB, Farrell PM, et al.

The Journal of pediatrics 2017; (181S()):S52-S57.e2 doi:10.1016/j.jpeds.2016.09.068.

The diagnosis of cystic fibrosis.

De Boeck K, Vermeulen F, Dupont L

Presse medicale (Paris, France : 1983) 2017; (46(6 Pt 2)):e97-e108 doi:10.1016/j.lpm.2017.04.010.

Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.

Sermet-Gaudelus I, Brouard J, Audrézet MP, et al.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2017; (24(12)):e1-e14 doi:10.1016/j.arcped.2017.07.015.

Salt-Losing Tubulopathies in Children: What's New, What's Controversial?

Kleta R, Bockenhauer D

Journal of the American Society of Nephrology : JASN 2018; (29(3)):727-739 doi:10.1681/ASN.2017060600.

Exertional rhabdomyolysis in carbonic anhydrase 12 deficiency.

Avital D, Hershkovitz E, Loewenthal N

Journal of pediatric endocrinology & metabolism : JPEM 2018; (31(6)):697-699 doi:10.1515/jpem-2017-0483.

Bartter syndrome: causes, diagnosis, and treatment.

Cunha TDS, Heilberg IP

International journal of nephrology and renovascular disease 2018; (11()):291-301 doi:10.2147/IJNRD.S155397.

Large pH oscillations promote host defense against human airways infection.

Kim D, Liao J, Scales NB, et al.

The Journal of experimental medicine 2021; (218(4)) doi:10.1084/jem.20201831.

Precision Medicine Based on CFTR Genotype for People with Cystic Fibrosis.

Haq I, Almulhem M, Soars S, et al.

Pharmacogenomics and personalized medicine 2022; (15()):91-104 doi:10.2147/PGPM.S245603.

Case Report: Novel CA12 Homozygous Variant Causing Isolated Hyperchloridrosis in a Chinese Child With Hyponatremia.

Han M, Peng M, Han Z, et al.

Frontiers in pediatrics 2022; (10()):820707 doi:10.3389/fped.2022.820707.

New drugs, new challenges in cystic fibrosis care.

Fajac I, Burgel PR, Martin C

European respiratory review : an official journal of the European Respiratory Society 2024; (33(173)) doi:10.1183/16000617.0045-2024.

COL4A2 -Related Disorder Presenting in Adulthood With Rhabdomyolysis.

Olarewaju BA, Tejon J, Shurrab S, et al.

American journal of medical genetics. Part A 2025; (197(4)):e63965 doi:10.1002/ajmg.a.63965.

Australasian guideline for the performance of sweat chloride testing 3rd edition: to support cystic fibrosis screening, diagnosis and monitoring.

Massie J, McWhinney A, Greed L, et al.

Clinical chemistry and laboratory medicine 2025; (63(10)):1956-1964 doi:10.1515/cclm-2025-0433.

A Quick Reference on Hyponatremia.

Guillaumin J, DiBartola SP

The Veterinary clinics of North America. Small animal practice 2026; (56(1)):43-49 doi:10.1016/j.cvsm.2025.09.015.