Are the Clinical Presentations (Phenotypes) of Gitelman's and Bartter's Syndromes Gene Mutations Driven by Their Effects on Intracellular pH, Their “pH” Enotype?
LA Calò, PA Davis - International Journal of Molecular Sciences, 2020 - mdpi.com
Gitelman's syndrome (GS) and Bartter's syndrome (BS) are rare inherited salt-losing
tubulopathies whose variations in genotype do not correlate well with either clinical course …
tubulopathies whose variations in genotype do not correlate well with either clinical course …
Cystinosis and two rare mutations in CTNS gene: two case reports
S Gholami Yarahmadi, F Sarlaki… - Journal of Medical Case …, 2022 - Springer
Background Cystinosis is an autosomal recessive disorder characterized by an
accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an …
accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an …
A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East
M Najafi, DMK Tamandani, A Azarfar, Z Bakey… - Frontiers in …, 2019 - frontiersin.org
Background: Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome,
is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large …
is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large …
Infantile nephropathic cystinosis: clinical features and outcome
S Raut, P Khandelwal, A Sinha, R Thakur… - Asian Journal of …, 2020 - journals.lww.com
Background: Nephropathic infantile cystinosis, the most common cause of renal Fanconi
syndrome, presents in early infancy with impaired growth, polyuria and polydipsia, and …
syndrome, presents in early infancy with impaired growth, polyuria and polydipsia, and …
A Bartter syndrome patient presenting with severe growth retardation: Answers
G Erfidan, D Alaygut, Ö Özdemir Şimşek… - Pediatric …, 2022 - Springer
Discussion Bartter syndrome (BS) is an autosomal recessively inherited kidney tubular
disorder with an estimated incidence of 1 case per 1,000,000 live births [1]. Although a …
disorder with an estimated incidence of 1 case per 1,000,000 live births [1]. Although a …
Infantile Nephropathic Cystinosis-Homozygous c. 516dupC Mutation of the CTNS Gene
V Dokousli, L Fidani, D Tramma… - Medical Science …, 2022 - medscidiscovery.com
Objective: Cystinosis is a rare, autosomal recessive, lysosomal storage disorder
characterized by cystine accumulation throughout the body, due to mutations in the gene …
characterized by cystine accumulation throughout the body, due to mutations in the gene …
Genetic analysis of two Iranian patients affected with cystinosis identified a novel CTNS mutation: case report
S Morovvati - Authorea Preprints, 2022 - essopenarchive.org
Two Iranian patients presented in this study was suffering from cystinosis diagnosed based
on their clinical symptoms and laboratory tests. The variations c. 257_258delCT and c …
on their clinical symptoms and laboratory tests. The variations c. 257_258delCT and c …