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Quoted phrase not found in phrase index: "Bartter disease type 2"
Page 1
Large-scale proteomics and phosphoproteomics of urinary exosomes.
Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta R, Wang NS, Knepper MA. Gonzales PA, et al. J Am Soc Nephrol. 2009 Feb;20(2):363-79. doi: 10.1681/ASN.2008040406. Epub 2008 Dec 3. J Am Soc Nephrol. 2009. PMID: 19056867 Free PMC article.
Overall, the analysis identified 1132 proteins unambiguously, including 177 that are represented on the Online Mendelian Inheritance in Man database of disease-related genes, suggesting that exosome analysis is a potential approach to discover urinary biomarkers. ...To dem …
Overall, the analysis identified 1132 proteins unambiguously, including 177 that are represented on the Online Mendelian Inheritance in Man …
Bartter and Gitelman syndromes.
Zieg J, Doležel Z. Zieg J, et al. Cas Lek Cesk. 2022 Summer;161(3-4):131-134. Cas Lek Cesk. 2022. PMID: 36100451 Review. English.
Bartter and Gitelman syndromes belong to salt-losing tubulopathies. ...
Bartter and Gitelman syndromes belong to salt-losing tubulopathies. ...
Diagnosis of hypokalemia: a problem-solving approach to clinical cases.
Assadi F. Assadi F. Iran J Kidney Dis. 2008 Jul;2(3):115-22. Iran J Kidney Dis. 2008. PMID: 19377223 Free article.
Metabolic acidosis with K/C ratio of 1.5 higher is often due to diabetic ketoacidosis or type 1 or type 2 distal renal tubular acidosis. Metabolic alkalosis with a K/C ratio less than 1.5 and a normal blood pressure is often due to surreptitious vomiting. Met …
Metabolic acidosis with K/C ratio of 1.5 higher is often due to diabetic ketoacidosis or type 1 or type 2 distal renal …
Nephrogenic diabetes insipidus.
Bockenhauer D, Bichet DG. Bockenhauer D, et al. Curr Opin Pediatr. 2017 Apr;29(2):199-205. doi: 10.1097/MOP.0000000000000473. Curr Opin Pediatr. 2017. PMID: 28134709 Review.
RECENT FINDINGS: MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter's syndrome.We distinguish two types of hereditary NDI: a 'pure' type with loss of water only and a complex type with …
RECENT FINDINGS: MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter …
Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.
García-Castaño A, Gómez-Conde S, Gondra L, Herrero M, Aguirre M, de la Hoz AB, Castaño L; Renaltube group; Madariaga L. García-Castaño A, et al. Sci Rep. 2023 Aug 3;13(1):12587. doi: 10.1038/s41598-023-38179-6. Sci Rep. 2023. PMID: 37537162 Free PMC article.
Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. ...Variants in SLC12A1 were found in 3 (BS type 1); and in KCNJ1 in 1 (BS type 2). These patients h …
Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary …
Diseases associated with calcium-sensing receptor.
Vahe C, Benomar K, Espiard S, Coppin L, Jannin A, Odou MF, Vantyghem MC. Vahe C, et al. Orphanet J Rare Dis. 2017 Jan 25;12(1):19. doi: 10.1186/s13023-017-0570-z. Orphanet J Rare Dis. 2017. PMID: 28122587 Free PMC article. Review.
Hypocalcemia disorders, which are more rare, are related to heterozygous activating mutations of the CASR gene (type 1), consisting of autosomal dominant hypocalcemia disorders, sometimes with a presentation of pseudo-Bartter's syndrome. The differential diag …
Hypocalcemia disorders, which are more rare, are related to heterozygous activating mutations of the CASR gene (type 1), consisting o …
Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy.
Nozu K, Yamamura T, Horinouchi T, Nagano C, Sakakibara N, Ishikura K, Hamada R, Morisada N, Iijima K. Nozu K, et al. Pediatr Int. 2020 Apr;62(4):428-437. doi: 10.1111/ped.14089. Epub 2020 Apr 13. Pediatr Int. 2020. PMID: 31830341 Review.
Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characterized by hypokalemia and metabolic alkalosis. Clinically, BS is classified into two types: the severe antenatal/neonatal type, which …
Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characte …
Understanding Bartter syndrome and Gitelman syndrome.
Fremont OT, Chan JC. Fremont OT, et al. World J Pediatr. 2012 Feb;8(1):25-30. doi: 10.1007/s12519-012-0333-9. Epub 2012 Jan 27. World J Pediatr. 2012. PMID: 22282380 Review.
CONCLUSIONS: Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syn …
CONCLUSIONS: Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter sy …
Hypocalcemia as the Initial Presentation of Type 2 Bartter Syndrome: A Family Report.
London S, Levine MA, Li D, Spiegel R, Lebel A, Halevy R, Tenenbaum-Rakover Y. London S, et al. J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1679-e1688. doi: 10.1210/clinem/dgab821. J Clin Endocrinol Metab. 2022. PMID: 34751387
CONTEXT: Bartter syndrome (BS) is a group of rare autosomal-recessive tubulopathies characterized by hypokalemic, hypochloremic metabolic alkalosis in which the primary defect is a deficiency of transporters involved in sodium chloride reabsorption. Type 2 …
CONTEXT: Bartter syndrome (BS) is a group of rare autosomal-recessive tubulopathies characterized by hypokalemic, hypochloremi …
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Tschernoster N, Erger F, Kohl S, Reusch B, Wenzel A, Walsh S, Thiele H, Becker C, Franitza M, Bartram MP, Kömhoff M, Schumacher L, Kukat C, Borodina T, Quedenau C, Nürnberg P, Rinschen MM, Driller JH, Pedersen BP, Schlingmann KP, Hüttel B, Bockenhauer D, Beck B, Altmüller J. Tschernoster N, et al. Genome Med. 2023 Aug 23;15(1):62. doi: 10.1186/s13073-023-01215-1. Genome Med. 2023. PMID: 37612755 Free PMC article.
Structural variants occur more frequently in regions with a high homology or repetitive segments, and one rearrangement may predispose to additional events. Bartter syndrome type 3 (BS 3) is a monogenic tubulopathy caused by deleterious variants in the chlori …
Structural variants occur more frequently in regions with a high homology or repetitive segments, and one rearrangement may predispose to ad …
72 results