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Pathogenesis of Bartter's Syndrome
RESEARCH Jan 5, 2018 | 07:06 am
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In a patient with Bartter's syndrome (increased plasma renin, juxtaglomerular-cell hyperplasia, hyperaldosteronism and hypokalemia, but no hypertension), aldosterone excretion and secretion were increased only moderately despite marked elevation of plasma renin, presumably because of suppression of aldosterone production by hypokalemia.[…] -
'Bubble kid' success puts gene therapy back on track
RESEARCH Mar 19, 2015 | 23:25 pm
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MOST parents dream of a 5-week-old baby who sleeps through the night, but Aga Warnell knew something was wrong. Her baby, Nina, just wasn't hungry in the way her other daughters had been.Within weeks, Nina became very ill, says her[…] -
Gene Therapy Research
RESEARCH Jan 11, 2015 | 13:13 pm
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Gene therapy emerged 15 yr ago with great expectations for a marriage between the remarkable advances in molecular biology of the previous decade and clinical medicine. It was originally an innovative treatment for incurable diseases, so-called genetic disorders, in which[…] -
Bartter Syndrome and Gitelman Syndrome
RESEARCH Dec 28, 2014 | 17:21 pm
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Bartter syndrome and Gitelman syndrome are characterized by fluid, electrolyte, urinary, and hormonal abnormalities, including renal K, Na, Cl, and H wasting; hypokalemia; hyperreninemia and hyperaldosteronism without hypertension; and metabolic alkalosis. Findings include electrolyte, growth, and sometimes neuromuscular abnormalities. Diagnosis[…]
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Rare Disease Day 2019
NEWS Jan 5, 2018 | 07:41 am
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There has been great progress in rare disease research, in big part thanks to the advocacy work of the rare disease patient community. Patients are already participating in research. And in some cases patients have taken the reins themselves to fund their own research.However, the fact remains that there are[…] -
Differences Between Bartter & Gitelman Syndrome
ETHAN'S JOURNEY Feb 1, 2017 | 04:16 am
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Researchers deciphered function of claudin-10 gene in the kidney
ETHAN'S JOURNEY Feb 1, 2017 | 04:03 am
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Sodium chloride, better known as salt, is vital for the organism, and the kidneys play a crucial role in the regulation of sodium balance. However, the underlying mechanisms of sodium balance are not yet completely understood. Researchers of the Max Delbr-ck Center for Molecular Medicine (MDC) Berlin-Buch, Charit- - Universit-tsmedizin[…] -
Kasich Signs Six Bills
NEWS Dec 19, 2016 | 22:18 pm
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COLUMBUS – Today Governor John R. Kasich signed the following bills into law: H.B. 166 (Green) extends the deadline for filing an application for the homestead exemption or 2 1/2% property tax rollback to the end of the tax year, to require that auditors certify Local Government Fund allocations to[…]
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New Bartter Syndrome Awareness Hoodies
EVENTS Jan 11, 2019 | 12:59 pm
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New arrivals to show your support and advocacy for Bartter Syndrome. Hoodies are Gildan Heavy Blend™ 8 oz., 50/50 Hood. 50% cotton, 50% polyester. Pill-resistant air jet yarn. Double-needle stitching throughout. Double-lined hood. 1×1 ribbed cuffs and waistband with spandex. Pouch pocket. Matching drawstring Click Here to Enter Store -
Senate Approves Bartter Syndrome Legislation From Senators Schiavoni And Cafaro
EVENTS Dec 19, 2016 | 22:08 pm
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COLUMBUS - Yesterday, Senator Joe Schiavoni (D-Boardman) and Senator Capri S. Cafaro (D-Hubbard) introduced S.B. 128, which would designate May 30th as Bartter Syndrome Awareness Day. The Senate passed S.B. 128 with unanimous support.“Bartter Syndrome is not well known, which often means those suffering from it wait far too long[…]
In the News
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FDA Gives Fabry Gene Therapy, FLT190, Orphan Drug StatusPosted on: 13 May 2020, source: fabrydiseasenews.com
The U.S. Food...- Gene therapy for color blindness passes first phase of human testing
Posted on: 4 May 2020, source: NewAtlas
The results of... - Gene therapy for color blindness passes first phase of human testing