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Jiaojiao Liu, Qian Shen, Guomin Li, Yihui Zhai, Xiaoyan Fang & Hong Xu. (2018) Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children. Renal Failure 40:1, pages 520-526.
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Ezgi Ay, Emre Gurses, Filiz Aslan, Bora Gulhan, Asuman Alniacik, Ali Duzova, Munir Demir Bajin, Levent Sennaroglu, Gulsum Aydan Genc, Fatih Ozaltin & Rezan Topaloglu. (2023) Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis. Audiology and Neurotology, pages 1-10.
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Lesa Dawman, Karalanglin Tiewsoh, Prabal Barman, Kambagiri Pratyusha, Lalawmpuia Chaakchhuak & Indar Kumar Sharawat. (2021) Phenotype and Genotype Profile of Children with Primary Distal Renal Tubular Acidosis: A 10-Year Experience from a North Indian Teaching Institute. Journal of Pediatric Genetics 11:03, pages 221-226.
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Wencong Guo, Qijing Song, Ruixiao Zhang, Qing Xin, Zhiying Liu, Yanhua Lang, Xiangzhong Zhao & Leping Shao. (2021) Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis. Clinical Genetics 100:4, pages 440-446.
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Sebastian Roesch, Gerd Rasp, Antonio Sarikas & Silvia Dossena. (2021) Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review. Audiology Research 11:3, pages 423-442.
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Lihong Zhang, Bei Xu, Ya Niu, Yajuan Wang & Hui Tang. (2021) Familial distal renal tubular acidosis. Journal of International Medical Research 49:3, pages 030006052110005.
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Li Chen, Han-Lu Wang, Yao-Bin Zhu, Zhao Jin, Jian-Bin Huang, Xin-Fu Lin, Jie-Wei Luo & Zhu-Ting Fang. (2020) Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene. Cell Death & Disease 11:3.
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Malika Dahmani, Sonia Talbi, Fatima Ammar-Khodja, Sofiane Ouhab, Farid Boudjenah, Merieme Djebbar, Crystel Bonnet & Christine Petit. (2020) ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis. International Journal of Pediatric Otorhinolaryngology 129, pages 109772.
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Jinna Yuan, Ke Huang, Wei Wu, Li Zhang & Guanping Dong. (2019) A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis. Medicine 98:30, pages e16504.
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Xiangzhong Zhao, Jingru Lu, Yanxia Gao, Xiaoling Wang, Yanhua Lang & Leping Shao. (2018) Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report. BMC Nephrology 19:1.
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Ruixiao ZhangCui WangYanhua LangYanxia GaoZeqing ChenJingru LuXiangzhong ZhaoLeping Shao. (2018) Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis. Genetic Testing and Molecular Biomarkers 22:10, pages 599-606.
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Marta Alonso-Varela, Helena Gil-Peña, Eliecer Coto, Juan Gómez, Julián Rodríguez, Enrique Rodríguez-Rubio & Fernando Santos. (2018) Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations. Pediatric Nephrology 33:9, pages 1523-1529.
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Eujin Park, Myung Hyun Cho, Hye Sun Hyun, Jae Il Shin, Joo Hoon Lee, Young Seo Park, Hyun Jin Choi, Hee Gyung Kang & Hae Il Cheong. (2018) Genotype–Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis. Kidney and Blood Pressure Research 43:2, pages 513-521.
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Majdi Nagara, Gregory Papagregoriou, Rim Ben Abdallah, Zied Landoulsi, Yosra Bouyacoub, Sahar Elouej, Rym Kefi, Tommaso Pippucci, Konstantinos Voskarides, Anu Bashamboo, Kenneth McElreavey, Mongia Hachicha, Giovanni Romeo, Marco Seri, Constantinos Deltas & Sonia Abdelhak. (2018) Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance. European Journal of Medical Genetics 61:1, pages 1-7.
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R. Todd AlexanderEmmanuelle CordatRégine ChambreyHenrik Dimke & Dominique Eladari. (2016) Acidosis and Urinary Calcium Excretion: Insights from Genetic Disorders. Journal of the American Society of Nephrology 27:12, pages 3511-3520.
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Eri Imai, Shuzo Kaneko, Takayasu Mori, Tomokazu Okado, Shinichi Uchida & Yusuke Tsukamoto. (2016)
A novel heterozygous mutation in the
ATP6V0A4
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Laura I. Escobar, Christopher Simian, Cyrielle Treard, Donia Hayek, Carolina Salvador, Norma Guerra, Mario Matos, Mara Medeiros, Sandra Enciso, María Dolores Camargo & Rosa Vargas‐Poussou. (2016)
Mutations in
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Juan Gómez, Helena Gil-Peña, Fernando Santos, Eliecer Coto, Ana Arango, Olaya Hernandez, Julián Rodríguez, Inmaculada Nadal, Virginia Cantos, Sara Chocrón, Inés Vergara, Álvaro Madrid, Carlos Vazquez, Luz E González & Fiona Blanco. (2015) Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing. Pediatric Research 79:3, pages 496-501.
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