Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 18 (of 18 Records) |
Query Trace: Renal Tubular Acidosis[original query] |
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Association between vitamin D receptor gene polymorphisms and tubular citrate handling in calcium nephrolithiasis. Journal of internal medicine 2003 Feb 253 (2): 194-200. Mossetti G, Vuotto P, Rendina D, Numis F G, Viceconti R, Giordano F, Cioffi M, Scopacasa F, Nunziata |
Distal renal tubular acidosis and its relationship with hearing loss in children: preliminary report. Iranian journal of kidney diseases 2010 Jul 4 (3): 202-6. Sharifian Mostafa, Esfandiar Nasrin, Mazaheri Samira, Kariminejad Ariana, Mohkam Masoumeh, Dalirani Reza, Esmaili Rana, Ahmadi Mitra, Hassas-Yeganeh Mehrnou |
The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers. Journal of the American Society of Nephrology : JASN 2015 Oct . Dhayat Nasser A, Schaller Andre, Albano Giuseppe, Poindexter John, Griffith Carolyn, Pasch Andreas, Gallati Sabina, Vogt Bruno, Moe Orson W, Fuster Daniel |
Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children. Renal failure 2018 9 40 (1): 520-526. Liu Jiaojiao, Shen Qian, Li Guomin, Zhai Yihui, Fang Xiaoyan, Xu Ho |
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis. Laboratory medicine 2018 8 50 (1): 78-86. Deejai Nipaporn, Wisanuyotin Suwannee, Nettuwakul Choochai, Khositseth Sookkasem, Sawasdee Nunghathai, Saetai Kiattichai, Yenchitsomanus Pa-Thai, Rungroj Nanyaw |
Targeted resequencing of phosphorus metabolism?related genes in 86 patients with hypophosphatemic rickets/osteomalacia. International journal of molecular medicine 2018 6 42 (3): 1603-1614. Gu Jiemei, Wang Chun, Zhang Hao, Yue Hua, Hu Weiwei, He Jinwei, Fu Wenzhen, Zhang Zhenl |
Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations. Pediatric nephrology (Berlin, Germany) 2018 5 33 (9): 1523-1529. Alonso-Varela Marta, Gil-Peña Helena, Coto Eliecer, Gómez Juan, Rodríguez Julián, Rodríguez-Rubio Enrique, Santos Fernando, |
Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis. Kidney & blood pressure research 2018 4 43 (2): 513-521. Park Eujin, Cho Myung Hyun, Hyun Hye Sun, Shin Jae Il, Lee Joo Hoon, Park Young Seo, Choi Hyun Jin, Kang Hee Gyung, Cheong Hae |
Sideroblastic anemia associated with multisystem mitochondrial disorders. Pediatric blood & cancer 2018 12 66 (4): e27591. Tesarova Marketa, Vondrackova Alzbeta, Stufkova Hana, Veprekova Lenka, Stranecky Viktor, Berankova Kamila, Hansikova Hana, Magner Martin, Galoova Natalia, Honzik Tomas, Vodickova Elena, Stary Jan, Zeman Ji |
Etiological Profile of Nephrocalcinosis in Children from Southern India. Indian pediatrics 2020 3 57 (5): 415-419. Ramya Kagnur, Krishnamurthy Sriram, Sivamurukan Palanisa |
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis. Clinical genetics 2021 6 100 (4): 440-446. Guo Wencong, Song Qijing, Zhang Ruixiao, Xin Qing, Liu Zhiying, Lang Yanhua, Zhao Xiangzhong, Shao Lepi |
Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability. American journal of medical genetics. Part C, Seminars in medical genetics 2022 8 190 (3): 279-288. Schönauer Ria, Scherer Lotte, Nemitz-Kliemchen Melanie, Hagemann Tobias, Hantmann Elena, Seidel Anna, Müller Luise, Kehr Stephanie, Voigt Cornelia, Stolzenburg Jens-Uwe, Halbritter J |
Association of autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity. Clinical case reports 2022 7 10 (7): e6070. Aso Keiko, Soutome Takehiko, Satoh Mari, Aoki Takako, Ogura Hiromi, Yamamoto Toshiyuki, Kanno Hitoshi, Takahashi Hiroyu |
Molecular Diagnosis of Primary Hyperoxaluria Type 1 and Distal Renal Tubular Acidosis in Moroccan Patients With Nephrolithiasis and/or Nephrocalcinosis. Cureus 2022 5 14 (3): e23616. Fatima Abdouss, Mohamed Ahakoud, Moustapha Hida, Karim Ould |
Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort. Molecular genetics and genomics : MGG 2022 May . Huang Lin, Qi Chang, Zhu Gaohong, Ding Juanjuan, Yuan Li, Sun Jie, He Xuelian, Wang Xiaow |
Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys. Molecular genetics & genomic medicine 2022 1 10 (2): e1868. Said Mariem Ben, Ayed Ikhlas Ben, Elloumi Ines, Hasnaoui Mehdi, Souissi Amal, Idriss Nabil, Aloulou Hajer, Chabchoub Imen, Maâlej Bayen, Driss Dorra, Masmoudi Sab |
Rare Case of Hemolytic Anemia and Distal Renal Tubular Acidosis in an adult due to Homozygous SLC4A1 Mutation. Indian journal of nephrology 2023 7 33 (3): 209-212. Wasiyeeullah Shaikh, Lohitaksha Suratkal, Abhay Bha |
Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis. Audiology & neuro-otology 2023 4 1-10. Ezgi Ay, Emre Gurses, Filiz Aslan, Bora Gulhan, Asuman Alniacik, Ali Duzova, Munir Demir Bajin, Levent Sennaroglu, Gulsum Aydan Genc, Fatih Ozaltin, Rezan Topalog |
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- Page last updated:Apr 29, 2024
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