Last Posted: Nov 07, 2019
- High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Hureaux Marguerite et al. Kidney international 2019 Sep
- The challenges of diagnosis and management of Gitelman syndrome.
Urwin Stephanie et al. Clinical endocrinology 2019 Oct
- Clinical and Genetic Characteristics in Patients With Gitelman Syndrome.
Fujimura Junya et al. Kidney international reports 2019 Jan 4(1) 119-125
- Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients.
Peng Xiaoyan et al. Frontiers in endocrinology 2018 9559
- Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia.
Bao Minghui et al. Clinical and experimental hypertension (New York, N.Y. : 1993) 2018 Jun 1-8
- Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Ashton Emma J et al. Kidney international 2018 Feb
- Mutation profile and treatment of Gitelman syndrome in Chinese patients.
Wang Fen, et al. Clinical and experimental nephrology 2016 5
- Clinical and genetic analyses of Chinese patients with Gitelman syndrome.
Miao M, et al. Genetics and molecular research : GMR 2016 0 (2)
- Phenotype-genotype correlation and follow-up in adult patients with hypokalaemia of renal origin suggesting Gitelman syndrome.
Balavoine A S, et al. European journal of endocrinology / European Federation of Endocrine Societies 2011 10 (4) 665-73
- Gitelman syndrome
From NCATS Genetic and Rare Diseases Information Center
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.