Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients

[1]  P. Houillier,et al.  Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study. , 2019, Journal of the American Society of Nephrology : JASN.

[2]  K. Nakanishi,et al.  Clinical and Genetic Characteristics in Patients With Gitelman Syndrome , 2018, Kidney international reports.

[3]  R. Kleta,et al.  Salt-Losing Tubulopathies in Children: What's New, What's Controversial? , 2017, Journal of the American Society of Nephrology : JASN.

[4]  R. Kleta,et al.  Clinical and diagnostic features of Bartter and Gitelman syndromes , 2017, Clinical kidney journal.

[5]  R. Kleta,et al.  A retrospective review of paediatric patients with Bartter and Gitelman syndrome , 2017 .

[6]  T. Chau,et al.  Identification of the Causes for Chronic Hypokalemia: Importance of Urinary Sodium and Chloride Excretion. , 2017, The American journal of medicine.

[7]  D. Bolignano,et al.  Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. , 2017, Kidney international.

[8]  M. Samuels,et al.  Renal apnoea: extreme disturbance of homoeostasis in a child with Bartter syndrome type IV , 2016, The Lancet.

[9]  K. Nakanishi,et al.  Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics , 2015, Genetics in Medicine.

[10]  A. James,et al.  Mortality following hospital discharge with a diagnosis of eating disorder: national record linkage study, England, 2001-2009. , 2014, The International journal of eating disorders.

[11]  R. Kessler,et al.  The Prevalence and Correlates of Binge Eating Disorder in the World Health Organization World Mental Health Surveys , 2013, Biological Psychiatry.

[12]  R. Pfundt,et al.  Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome , 2011, European Journal of Human Genetics.

[13]  A. Mitchell,et al.  Mortality rates in patients with anorexia nervosa and other eating disorders. A meta-analysis of 36 studies. , 2011, Archives of general psychiatry.

[14]  D. Kahila,et al.  Spectrum of mutations in Gitelman syndrome. , 2011, Journal of the American Society of Nephrology : JASN.

[15]  C. Ponticelli,et al.  Gitelman syndrome: pathophysiological and clinical aspects. , 2010, QJM : monthly journal of the Association of Physicians.

[16]  M. Carella,et al.  Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients. , 2010, Molecular genetics and metabolism.

[17]  R. Hennekam,et al.  HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. , 2009, Journal of the American Society of Nephrology : JASN.

[18]  Shih-Hua Lin,et al.  Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure. , 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[19]  F. Gennari,et al.  Acid-base disturbances in gastrointestinal disease. , 2008, Clinical journal of the American Society of Nephrology : CJASN.

[20]  H. Seyberth.  An improved terminology and classification of Bartter-like syndromes , 2008, Nature Clinical Practice Nephrology.

[21]  E. Levtchenko,et al.  Orphanet Journal of Rare Diseases BioMed Central Review , 2008 .

[22]  Hongyu Zhao,et al.  Rare independent mutations in renal salt handling genes contribute to blood pressure variation , 2008, Nature Genetics.

[23]  E. Susser,et al.  Epidemiology and course of anorexia nervosa in the community. , 2007, The American journal of psychiatry.

[24]  G. Casari,et al.  A thiazide test for the diagnosis of renal tubular hypokalemic disorders. , 2007, Clinical journal of the American Society of Nephrology : CJASN.

[25]  C. Bulik,et al.  Features Associated With Laxative Abuse in Individuals With Eating Disorders , 2006, Psychosomatic medicine.

[26]  M. Hiramatsu,et al.  Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria. , 2004, The Journal of clinical endocrinology and metabolism.

[27]  A. Bettinelli,et al.  Concealed administration of frusemide simulating Bartter syndrome in a 4.5-year-old boy , 1995, Pediatric Nephrology.

[28]  H. Hoek,et al.  Review of the prevalence and incidence of eating disorders. , 2003, The International journal of eating disorders.

[29]  R. Szargel,et al.  A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. , 2003, Kidney international.

[30]  Tsuyoshi Watanabe,et al.  Use of a proton-pump inhibitor for metabolic disturbances associated with anorexia nervosa. , 2002, The New England journal of medicine.

[31]  T. Mansfield,et al.  Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III , 1997, Nature Genetics.

[32]  R. Lifton,et al.  Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter , 1996, Nature Genetics.

[33]  E. Ritz,et al.  Chronic hypokalaemia of adults: Gitelman's syndrome is frequent but classical Bartter's syndrome is rare. , 1995, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[34]  G. Colussi,et al.  Pseudo-Bartter's syndrome from surreptitious diuretic intake: differential diagnosis with true Bartter's syndrome. , 1992, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[35]  James E Mitchell,et al.  Pseudo‐Bartter's syndrome, diuretic abuse, idiopathic edema, and eating disorders , 1988 .

[36]  J. Webb.  Severe metabolic alkalosis: a case report , 1981 .

[37]  E. Nardell,et al.  Severe metabolic alkalosis: a case report. , 1981, British medical journal.

[38]  J. Cummings,et al.  Laxative-induced Diarrhoea: A Continuing Clinical Problem , 1974, British medical journal.

[39]  J. Brown,et al.  Psychiatric disturbance leading to potassium depletion, sodium depletion, raised plasma-renin concentration, and secondary hyperaldosteronism. , 1968, Lancet.