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Inborn in Medical News

BioMarin Announces Second Quarter 2009 Financial Results

... of 2010. Anticipated Upcoming Milestones 3Q09: Initiation of PEG-PAL Phase II trial 3Q09: International Congress of inborn Errors of Metabolism (ICIEM) meeting - Data on first cohort of patients from trial evaluating the impact of Kuvan on executive function 2...

Hyperion Therapeutics Raises $60 Million Series C

...mine. About Urea Cycle Disorders Urea cycle disorders are inherited, inborn errors of metabolism present in an estimated 1 in 10,000 births in the Unit...ution when administering to patients with hepatic or renal insufficiency or inborn errors of beta oxidation. The safety or efficacy of doses in excess of 20 g...

Hyperion Therapeutics Announces Results of Phase I Study in Patients With Liver Cirrhosis

...f HE. About Urea Cycle Disorders Urea cycle disorders are inherited, inborn errors of metabolism present in an estimated 1 in 10,000 births in the Unit...ution when administering to patients with hepatic or renal insufficiency or inborn errors of beta oxidation. The safety or efficacy of doses in excess of 20 g...

Hyperion Therapeutics Completes Phase 2 Data Analysis and Schedules End of Phase 2 Meeting With FDA for HPN-100 in the Chronic Treatment of Urea Cycle Disorders

...for urea cycle disorders, hepatic encephalopathy, and other forms of hyperammonemia. About Urea Cycle Disorder Urea cycle disorders are inherited, inborn errors of metabolism present in an estimated 1 in 10,000 births in the United States. Patients with urea cycle disorders are deficient in one of the k...

Type 1 diabetes may result from good genes behaving badly

...may not be due to bad genes but rather to good genes behaving badly. Because type 1 diabetes typically runs in families, scientists have looked for inborn genetic errors or gene variants passed on from generation to generation. Although this search has failed to find a single type 1 diabetes gene, many c...

Resveratrol: Thousands of Bottles of Wine, High-Dose Pills Not Required; Mega-doses May Induce Side Effects

...ogressively "rusting and calcifying" cells and tissues. Sardi says males universally age faster and have shorter life spans because they do not have inborn mechanisms to control the accumulation of iron and calcium as do menstruating females. By age 40 a male will have twice the iron and calcium load as a...

Drug therapy for PKU reverses heart damage

...ic chemicals, called oxygen free radicals. Doctors have used BH4 and diets that exclude phenylalanine for almost a decade to treat PKU, a so-called inborn error of metabolism that if left untreated causes irreversible brain damage. It affects an estimated 15,000 newborns in the United States each year. ...

Scans spot hidden tumors in rare cancer syndrome

...o determine whether PET/CT screening is beneficial in LFS patients, who are highly susceptible to a variety of cancers from an early age because of an inborn gene mutation. We need to be cautious, and we shouldn't say that every patient with the syndrome should have a PET/CT examination," said Annick Van...

Masimo SET Pulse Oximetry Technology Significantly Reduce the Risk of ROP

...to state that the results were "significantly more favorable" for the center that switched to Masimo technology. "In a large group of examined inborn infants Joe E. Kiani, Chairman and CEO of Masimo stated; "In 2002, a group of researchers at Cedars Sinai led by Dr. Sola published a ground-b...

Genetic Technology and Eugenics

... conceivable that we will begin to design our own evolutionary progress'. // ...ISAAC ASIMOV The desire to strive towards betterment is an inborn human trait that has transformed man from a long-tailed, tree-swinging primate to a techno-savvy, go-getter. Although desire has been considered the r...
Inborn in Medical Technology

Hyperion Therapeutics Receives Orphan Drug Designation for HPN-100 for the Treatment of Urea Cycle Disorders

...ion. About Urea Cycle Disorders Urea cycle disorders are inherited, inborn errors of metabolism present in an estimated 1 in 10,000 births in the Unit...ution when administering to patients with hepatic or renal insufficiency or inborn errors of beta oxidation. The safety or efficacy of doses in excess of 20 g...

Hyperion Therapeutics Announces Results for Phase II Study in Urea Cycle Disorders

...ers." About Urea Cycle Disorders Urea cycle disorders are inherited, inborn errors of metabolism present in an estimated 1 in 10,000 births in the Unit...ution when administering to patients with hepatic or renal insufficiency or inborn errors of beta oxidation. The safety or efficacy of doses in excess of 20 ...

Raptor Pharmaceuticals Corp. Announces Positive Phase IIa Clinical Study Results for Convivia(TM) Program

...ion in Tachycardia and Blood Acetaldehyde Levels in Subset of Subjects with inborn Error of Alcohol Metabolism NOVATO, Calif., Nov. 11 /PRNewswire-FirstCall...tudy enrolled 32 subjects of Japanese descent with a history of symptoms of inborn altered ethanol metabolism with concomitant ethanol exposure. At the time o...

Hyperion Therapeutics Completes Enrollment in Phase 1/2 Clinical Trial in Patients With Urea Cycle Disorders

...Ds and the results will be important in assessing its potential to improve care for these patients." About Urea Cycle Disorder UCDs are inherited, inborn errors of metabolism present in an estimated 1 in 10,000 births in the US. Patients with UCDs lack or are deficient in one of the key enzymes that com...

Gene Therapy Improves Vision in Patients with Congenital Retinal Disease

...llows, technicians and administration. The scope of the science currently covered at TIGEM spans three disease research area: developmental disorders, inborn errors of metabolism and inherited eye diseases. Research approaches include cell biology, functional genomics, systems biology and gene therapy. TIGE...

Basic Science Discoveries Yield Progress in Hepatology

...tion in mice with liver failure. For some researchers, this is a potential treatment that, if successfully applied to humans, will allow correction of inborn errors of metabolism or allow patients to live long enough for a donated organ to become available. Some scientists believe that stem cells might even...

Hyperion Therapeutics Announces Enrollment of First Patient in Phase 1/2 Clinical Trial of GT4P in Patients With Urea Cycle Disorders

...r argininosuccinic acid synthetase (AS)), and a pre-prodrug of phenylacetate (PAA). About Urea Cycle Disorder A urea cycle disorder is an inherited, inborn error of metabolism present in an estimated 1 in 10,000 live births in the U.S. Patients with UCDs lack or are deficient in one of the key enzymes tha...

Breaking Multi-Center Study: Masimo SET Pulse Oximetry Technology Shown to Significantly Lower Instances of Severe Retinopathy of Prematurity in Extremely Low Birth Weight Infants

...chers to state that the results were "significantly more favorable" for the center that switched to Masimo technology. "In a large group of examined inborn infants <1,250 grams treated by the same neonatologists, MDs and NNPs using the same clinical guideline to decrease hyperoxemia and wide changes in ox...
Inborn in Medical Dictionary

Tyrosinemia

... disorder and causes ... tyrosinemia ( ′tirə′sēmēə ) ( medicine ) An inborn metabolic disorder in which there is a deficiency of the enzyme p -hydr...so known as Richner-Hanhart syndrome; ... Tyrosinemia is a hereditary inborn error of metabolism that causes severe liver ... The gene defect for ...

Metabolic Diseases

... inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single ge...

Leukodystrophy

...he fatty covering that acts as an insulator around nerve... leukodystrophy ( ′lükə′distrəfē ) ( medicine ) A condition thought to result from an inborn error of metabolism and characterized by progressive ... (called a mutation) may lead to a leukodystrophy . ... Adult-onset Autosomal Dominan...

Inborn errors

... inborn errors of metabolism comprise a large class of ...ubstrates) into others (products). In most... inborn errors of carbohydrate metabolism are inborn error of metabolism that affect the catabolism ...

Hyperuricemia

...e blood, is a problem that affects ... Hyperuricemia and gout effect men 3-4 times more often than women. ... Lesch-Nyhan syndrome is a rare inborn error of purine metabolism ... Hereditary Hyperuricemia and Choreoathetosis Syndrome. HGPRT, Absence of. HPRT, Absence of ... ...

Hurler syndrome

...ler syndrome usually succumb to problems such ... Hurler's syndrome symptoms, causes, diagnosis, and treatment ... Hurler's syndrome : inborn mucopolysaccharide ... Hurler's syndrome (www.whonamedit.com) ... Hurler syndrome is a disease with a poor prognosis. ... if you have a ...

Hunter syndrome

...m, a coarse facies, hepatosplenomegaly, digital contractures and mental ... Hunter syndrome , also known as mucopolysaccharidosis II, is a rare inborn error ... the main title of the report Hunter Syndrome is not the name you expected. ... Hunter syndrome is inherited as an X-linked reces...

Cystinuria

...and ... More about Cystinuria : Causes and symptoms Diagnosis Treatment Prognosis Prevention Resources Cystinuria Definition Cystinuria is an inborn error of Cystinuria ... Cystinuria is an inherited metabolic disorder characterized by the abnormal ... Four subtypes of Cystinuria are reco...

Congenital

...ed for several months after birth,... A congenital cardiovascular defect occurs when the heart or blood vessels near... Congenital means inborn or existing at birth. ... Below are resources for finding more information on congenital heart defects. ... Congenital Heart Information Net...

Cobalamin

...e cell activity, DNA replication, ... The rationale for using high-dose cobalamin (vitamin B12) ... ... for families of children affected by inborn errors of cobalamin metabolism. ... The Cobalamin Network. 207 E. 14th Pl. Cut Off, LA 70345 ... VITAMIN B12 OR COBALAMIN DEFICIENCY occurs...
Inborn in Biological News

Innovations in Pediatric Medicine CME conference brings together national pediatrics experts

...ren's Health at NewYork-Presbyterian Hospital/Weill Cornell Medical Center and Weill Cornell Medical College 8:00 8:45 a.m. Newborn Screening for inborn Errors of Metabolism Dr. Piero Rinaldo, Mayo Clinic College of Medicine, Rochester, Minn. 8:45 9:15 a.m. Prenatal Pediatrics: How Analysis of Fe...

Genes may make some people more prone to anxiety

... WASHINGTON inborn differences may help explain why trauma gives some people bad memories and others the nightmare of post-traumatic stress. Scientists in Germany and th...

Caterpillars tell us how bacteria cause disease

...ith millions of species worldwide, insects provide a massive pool of hosts for bacterial diseases. The immune system of insects is very similar to the inborn immune system of mammals. By living first in insects some bacteria have evolved to survive immune system attack, so when they invade mammals they are ...

UF scientists test improved gene therapy method for hereditary heart conditions

...is could be used in children," he said, adding that UF researchers hope to launch a trial in patients with Pompe disease early next year. "Many of the inborn errors have their most feared effects early in life, so we're pushing toward being able to do prevent disease as opposed to trying to correct later. W...

Gene controls whether fear is a factor

...depleted of stathmin perform normally in a test of spatial learning. Fear reactions represent a spectrum of behaviors that vary from those that are inborn to those instilled through experience, said the researchers. Instinctive fears--such as fear of heights or predators--are often species specific towar...

Science study holds implications for gene therapy and stem cell biology

...ut are also being tested in well-controlled clinical trials to treat severe inborn diseases or cancer in humans. Retrovirus-based gene transfer vectors are...cientists, in general, experiment with related gene vectors to treat severe inborn disorders or cancer. There continues to be an increasing interest in gene t...

Children's taste sensitivity and food choices influenced by taste gene

...tter-insensitive children. "This knowledge may bring relief to parents who learn that their children reject foods that they themselves like because of inborn differences in taste ability, rather than rebelliousness or defiance of authority," explains Reed. The research continues and extends Monell's long...
Inborn in Biological Technology

Raptor Pharmaceuticals Corp. Announces Presentation at 5th International Cystinosis Conference 2008

...he poster and round table session of the conference. For more information on this event please visit: http://www.cystinosis.ie . Cystinosis is an inborn metabolic error characterized by abnormal transport of cystine, an amino acid, out of the lysosomes. Symptom onset typically occurs within the first y...

Applied Isotope Technologies will Exclusively Supply Biochemimarker(TM) Discovery Products for a Unique Pilot Study on Autism

...tervention choices for ASD similar to the currently mandated PKU tests that are done for all newborn babies in the US." PKU, or phenylketonuria, is an inborn error of metabolism that affects 1 in 10,000 babies. Identification of PKU in children at birth allows immediate intervention through a special diet t...

Hyperion Therapeutics, Inc. Announces Senior Management Team and $15M Financing Event

..., and in clinical states where there is sodium retention with edema. Use caution when administering to patients with hepatic or renal insufficiency or inborn errors of beta oxidation. The safety or efficacy of doses in excess of 20 grams (40 tablets) per day has not been established. AMMONUL and BUPHENYL a...

The Bio-Rad Silver Stain, Rev E

... 33, 13651368 (1983) 50. Merril CR and Goldman, D, Quantitative two-dimensional protein electrophoresis for studies of inborn errors of metabolism, Clin Chem 28, 10151020 (1982) 51. Merril CR and Goldman D, Detection of polypeptides in two-dimensional gel...
Inborn in Biological Definition

Down syndrome

...tment of parents, teachers and therapists to individual children has produced previously unexpected positive results. Medical research Of the inborn disorders that affect intellectual capacity, Down syndrome is the most prevalent and best studied. Down syndrome is a term used to encompass a number ...

Urea cycle

...a usually have to convert it to some other substance, like urea or uric acid . Insufficiency of the urea cycle occurs in some genetic disorders ( inborn errors of metabolism ), and in liver failure . The result in liver failure is accumulation of nitrogenous waste, mainly ammonia, which leads to hepa...
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