*  Pharma stories at Techdirt.
In September 2014 Retrophin acquired the rights to thiola, a drug used to treat the rare disease cystinuria. It was with ... Retrophin's stated goal was ferreting out value in biopharma by acquiring assets with potential in rare and neglected diseases ... a process that can mean acquiring an underused drug and jacking up its cost to take advantage of rare disease pricing.. Here's ...
  https://www.techdirt.com/blog/?tag=pharma
*  Evaluation of the Renal Patient - Genitourinary Disorders - Merck Manuals Professional Edition
Diagnostic of cystinuria, a rare hereditary cause of calculi. Magnesium ammonium phosphate ... They may appear in urine when a hereditary or acquired tubular transport defect (eg, Fanconi syndrome, cystinuria) is present. ... Uremic frost, the deposition of white-to-tan urea crystals on the skin after sweat evaporation, is rare. ... Odor, often unintentionally noted during visual inspection, conveys useful information only in rare cases of inherited ...
  http://www.merckmanuals.com/professional/genitourinary-disorders/approach-to-the-genitourinary-patient/evaluation-of-the-renal-patient?Ref=n&RefId=x&Plugin=WMP&Speed=256&ItemId=v1047876
*  Kidney Stones | Healing Centers | Healing Centers | Healthways, Inc.
Cystinuria may lead to rare cystine stones. Other medical conditions linked to kidney stone formation include: ... Cystinuria is a rare inherited metabolic disorder where the amino acid cystine builds up in the urine instead of dissolving ... Excess oxalate in the urine may be the result of hyperoxaluria, a rare, inherited, metabolic disorder in which the body ...
  http://www.wholehealthmd.com/main/healing-centers/kidney-stones-28.aspx?page=center-overview
*  Cysteine | StayWell Health Library | Main
You should not use cysteine if you have diabetes or cystinuria (a rare genetic issue that causes cystine kidney stones). ...
  http://www.lifebridgehealth.org/Main/HealthLibrary.aspx?iid=19_Cysteine
*  Martin Shkreli - Wikipedia
... a drug used to treat the rare disease cystinuria. Shortly before Retrophin fired Shkreli, Retrophin raised the price of Thiola ... Shkreli has a variety of interests ranging from collecting rare music albums to video gaming. He is an avid League of Legends ... "Wu-Tang Clan - Once Upon A Time In Shaolin - Rare CD! , eBay". eBay. Retrieved 2017-09-13. "Martin Shkreli makes a play for ... to create treatments for rare diseases. Retrophin's board decided to replace Shkreli in September 2014, and he resigned from ...
  https://en.wikipedia.org/wiki/Martin_Shkreli
*  What is Cystinuria? | Cystinuria
How common is Cystinuria? The occurrence of cystinuria is rare as it can be found in approximately 1 in 10,000 people. ... How do people inherit Cystinuria? Cystinuria is an inherited condition which causes stones of amino acid cysteine in the ... Cystinuria is a condition characterized by the buildup of cystine crystals or stones in the kidneys and bladder. ... People with cystinuria cannot properly reabsorb cystine into their bloodstream and the amino acid accumulates in their urine. ...
  http://www.onlymyhealth.com/what-cystinuria-12977605943
*  American Kidney Fund (AKF)
The company's work in kidney disease centers on cystinuria, a rare and chronic genetic disorder characterized by the formation ... Research exploring the potential of early-stage assets in several rare diseases is also underway. Retrophin's R&D efforts are ... The corporate honoree, Retrophin, is dedicated to delivering life-changing therapies to people living with rare diseases who ... The Company's approach centers on its pipeline featuring clinical-stage assets targeting rare diseases with significant unmet ...
  http://www.kidneyfund.org/news/news-releases/american-kidney-fundannounces-honorees-for-november-1.html
*  Cystinuria - Wikipedia
Although signs and symptoms are rare, there are some directly and indirectly associated with cystinuria. These sign and ... http://cystinuria.com/diagnosis/[unreliable medical source?]. *^ Biyani CS, Cartledge JJ (2006). "Cystinuria-Diagnosis and ... Cystinuria is caused by mutations in the SLC3A1 and SLC7A9 genes. These defects prevent proper reabsorption of basic, or ... Cystinuria is an inherited autosomal recessive[1] disease that is characterized by high concentrations of the amino acid ...
  https://en.m.wikipedia.org/wiki/Cystinuria
*  Discovery of a gene associated with a set of poorly understood rare diseases | EurekAlert! Science News
Defects in multiciliated cells lead to ciliopathies -- rare and complex diseases that are poorly understood and for which not ... diverse type of rare cancers, Friedreich Ataxia, Cystinuria, mithocondrial diseases, Charcot Marie Tooth disease, Ataxia- ... Rare Diseases at IRB Barcelona. Scientific literature documents between 6,000 and 7,000 rare diseases-- conditions defined by ... Discovery of a gene associated with a set of poorly understood rare diseases. Institute for Research in Biomedicine (IRB ...
  https://www.eurekalert.org/pub_releases/2016-03/ifri-doa030216.php
*  glossary
Cystine stones: form in people affected with a rare hereditary disorder called cystinuria. In this disease, the kidneys release ...
  http://kidney-facts.com/index.php?artid=32
*  First observation of a human HAT, key proteins in numerous pathologies
HAT amino acid transporters »IRB »PNAS »amino acid »cell membrane »cystinuria »membrane protein »membrane protein structure » ... Mutation in the 4F2hc/y+LAT1 complex causes lysinuric protein intolerance, a rare disease with 200 known cases. Finally, ... Further reports about: , HAT amino acid transporters , IRB , PNAS , amino acid , cell membrane , cystinuria , membrane protein ... These are associated, for example, with the following: rare diseases called aminoacidurias, such as lysinuric protein ...
  https://www.innovations-report.com/hrml/reports/studies/observation-a-human-hat-key-proteins-numerous-226090.html
*  Health& - Kidney stones
Cystinuria. A rare condition in which excess cystine (an amino acid) is produced in the urine, often leading to stones in the ... Cystinuria. A rare condition in which excess cystine (an amino acid) is produced in the urine, often leading to stones in the ... Cystine stones are caused by a rare condition called cystinuria, which is inherited from your parents. ... Have other medical conditions such as irritable bowel syndrome, renal tubular acidosis or cystinuria. ...
  https://healthand.com/au/topic/general-report/kidney-stones
*  Search of: Recruiting, Not yet recruiting, Available Studies | 'Rare Diseases' - List Results - ClinicalTrials.gov
Rare Kidney Stone Consortium Biobank. *Primary Hyperoxaluria. *Dent Disease. *APRT Deficiency. *Cystinuria ... Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford. *Rare Disorders ... Rare Diseases Clinical Research Network: Neurophysiological Correlates. *Rett Syndrome, Preserved Speech Variant ... To accelerate research into rare disorders by connecting individuals who are interested in research and who have been diagnosed ...
  https://clinicaltrials.gov/ct2/results?recr=Open&cond=%22Rare+Diseases%22&show_down=Y
*  CSNU1 | definition of CSNU1 by Medical dictionary
Cystinuria is a rare disease that occurs when people inherit an abnormal gene from their parents. This disease occurs in ... cystinuria. (redirected from CSNU1). Also found in: Dictionary, Encyclopedia. Cystinuria. Definition. Cystinuria is an inborn ... The mutated cystinuria gene codes for the amino acid transporters in the kidney tubules.. cystinuria (sis·t. ·nurˑ·ē·. ),. n ... Cystinuria is a genetic disorder that currently cannot be prevented.. Resources. Organizations. Cystinuria Support Network. ...
  https://medical-dictionary.thefreedictionary.com/CSNU1
*  Most recent papers with the keyword Siameses | Read by QxMD
In cats, cystinuria affects equally both genders independent of neutering status and, despite being rare, already more ... Cystinuria is caused by defective proximal renal tubular reabsorption of the amino acids cystine, ornithine, lysine, and ... Cystinuria caused by a SLC7A9 missense mutation in Siamese-crossbred littermates in Germany]. ... Much progress has been made recently in the diagnosis and understanding of cystinuria in companion animals. ...
  https://www.readbyqxmd.com/keyword/81088
*  Kidney Stones: Symptoms, Causes, Treatment, and Diagnosis | FindATopDoc
Cystinuria (too much cystine in the urine) is a rare, inherited metabolic disorder. ... 2. Struvite stones: Struvite stones are rare but can grow quickly and become quite large, sometimes with very few symptoms or ... cystinuria, hyperparathyroidism, certain medications and some urinary tract infections. ...
  https://www.findatopdoc.com/Medical-Library/Diseases-and-Conditions/Kidney-Stones
*  Martin Shkreli ~ Truman-support
... a drug used to treat the rare disease cystinuria. Retrophin's board decided to replace Shkreli in September 2014, and he ... to create treatments for rare diseases. In 2011, MSMB made an unsolicited bid for AMAG Pharmaceuticals, US$378 million, and in ...
  http://truman-support.blogspot.com/2016/01/martinshkreli_30.html
*  Cystinuria - Wikipedia
Although signs and symptoms are rare, there are some directly and indirectly associated with cystinuria. These sign and ... International Cystinuria Foundation homepage Cystinuria discussion forums at Archive.is (archived April 14, 2013) Cystinuria ... Urine odor in cystinuria has a smell of rotten eggs due to the increase in cystine. Cystinuria is an autosomal recessive ... Cystinuria is usually asymptomatic when no stone is formed. However, once a stone is formed, or if stone production is severe ...
  https://en.wikipedia.org/wiki/Cystinuria
*  Medical Term Kidney Stones - will kidney stone cause blood in urine
Cystinuria is a rare, autosomal recessive disorder that causes increased urinary excretion of cystine and the formation of ...
  http://morningnewsit.info/Medical-Term-Kidney-Stones
*  Do You Know How To Get Rid Of Kidney Stones Without Pain? Learn Here alternative-doctor Alternative Doctor Official Website
Kidney stones are not rare at all! There's about 1 million cases of kidney stones in the United States every year. That ... These form in people with cystinuria (an inherited disorder that runs in families and affects both genders). ... These nasty little buggers are more likely to affect you in middle age and there are a couple of rare genetic metabolic ... disorders (hyperparathyroidism, cystinuria, and hyperoxaluria) that significantly increase your risk!. *Males are 3 times more ...
  http://alternative-doctor.com/blog/how-to-get-rid-of-kidney-stones/
*  Mass Spectrometry-based in vitro Assay to Identify Drugs that Influence Cystine Solubility -BIO-PROTOCOL
There is a large unmet need in the field for developing new drugs for cystinuria. To that end, here we describe a simple in ... Using a mouse model of cystinuria, we have recently shown that administration of drugs that increase cystine solubility in the ... Cystinuria is a rare genetic disorder characterized by recurrent, painful kidney stones, primarily composed of cystine, the ... Cystinuria is a rare genetic disorder characterized by recurrent, painful kidney stones, primarily composed of cystine, the ...
  https://bio-protocol.org/e2417
*  CYSTINURIA: An Introduction for Patients | Kidney Stone Evaluation And Treatment Program
CYSTINURIA: An Introduction for Patients By azisman. What is Cystinuria and Who Gets It?. Cystinuria is a rare genetic disorder ... What Is the Problem in Cystinuria?. Patients with cystinuria have an abnormally functioning protein in the part of the kidney ... 26 Responses to "CYSTINURIA: An Introduction for Patients". * Jeffery Reavis. October 4, 2017. Dr. Coe,. Thank you for all the ... While clearly rare, it is responsible for 2-3% of all kidney stones, and is even more common in kids (about 5%) as stones are ...
  https://kidneystones.uchicago.edu/cystinuria-an-introduction-for-patients/
*  Cystinuria type I | definition of cystinuria type I by Medical dictionary
... cystinuria type I explanation free. What is cystinuria type I? Meaning of cystinuria type I medical term. What does cystinuria ... Looking for online definition of cystinuria type I in the Medical Dictionary? ... Cystinuria is a rare disease that occurs when people inherit an abnormal gene from their parents. This disease occurs in ... cystinuria. (redirected from cystinuria type I). Also found in: Dictionary, Encyclopedia. Cystinuria. Definition. Cystinuria is ...
  https://medical-dictionary.thefreedictionary.com/cystinuria+type+I
*  kidney calculi
The impact of cystinuria on renal function. Dean G Assimos. Wake Forest University School of Medicine, Winston Salem, North ... Kidney stones lead to chronic kidney disease (CKD) in people with rare hereditary disorders (e.g., primary hyperoxaluria, ... We determined the potential impact of cystinuria and cystine stone formation on the level of renal function compared to calcium ... cystinuria), but it is unknown whether kidney stones are an important risk factor for CKD in the general population... ...
  https://www.labome.org/topics/diseases/urologic/urologic/kidney/kidney-calculi-7462.html