*  A Pilot Study on Diurnal Variation - Full Text View - ClinicalTrials.gov
Phenylketonuria (PKU) is a rare genetic metabolic disease caused by a mutation that codes for an enzyme that converts the ... Phenylketonurias. Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases ... Genetics Home Reference related topics: phenylketonuria tetrahydrobiopterin deficiency MedlinePlus related topics: ... Genetic and Rare Diseases Information Center resources: Phenylketonuria Inborn Amino Acid Metabolism Disorder ...
  https://clinicaltrials.gov/ct2/show/NCT01806051?recr=Open&cond=%22Phenylketonurias%22&rank=14
*  The Effects of Sapropterin Dihydrochloride Supplementation on in Vivo Redox Status in Patients With Classical PKU - Full Text...
Phenylketonurias. Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases ... Determine in vivo redox status in patients with classical phenylketonuria. The primary objective of this study is to determine ... The primary objective of this study is to determine oxidative stress in patients with classical phenylketonuria (PKU) enrolled ... Genetics Home Reference related topics: phenylketonuria tetrahydrobiopterin deficiency MedlinePlus related topics: ...
  https://clinicaltrials.gov/ct2/show/NCT01650909?recr=Open&cond=%22Brain+Diseases%2C+Metabolic%2C+Inborn%22&rank=18
*  Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU) - Full Text View - ClinicalTrials.gov
Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU). The safety and scientific validity of this study is the ... Phenylketonuria (PKU) is a rare genetic condition. If not treated, PKU can cause severe mental retardation. Women with PKU are ... Phenylketonurias. Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases ... Koch R, Levy HL, Matalon R, Rouse B, Hanley W, Azen C. The North American Collaborative Study of Maternal Phenylketonuria. ...
  https://clinicaltrials.gov/show/NCT00065299
*  Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period - Full Text View - ClinicalTrials.gov
Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period (ENDURE). This study has been completed. ... Phenylketonuria, Publication Link Publications: Scriver CR, Kaufman S. Hyperphenylanaemia: phenylalanine hydroxylase deficiency ... The neuropathology of phenylketonuria: human and animal studies. Eur J Pediatr. 2000 Oct;159 Suppl 2:S102-6. Review. ... The Phenylketonuria (PKU) is categorized as per phenotype into classical PKU: (blood Phe levels greater than [,] 1200 micromole ...
  https://clinicaltrials.gov/ct2/show/NCT01082328?cond=%22phenylketonuria%22&rank=12
*  Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU - Full...
Phenylketonurias. Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases ... MedlinePlus related topics: Phenylketonuria Drug Information available for: Phenylalanine Sapropterin Sapropterin ... Genetic and Rare Diseases Information Center resources: Phenylketonuria Inborn Amino Acid Metabolism Disorder ... Genetics Home Reference related topics: phenylketonuria tetrahydrobiopterin deficiency ...
  https://clinicaltrials.gov/ct2/show/NCT00838435
*  Comparison of Gut Microbial Community in Infants and Toddlers with and without Phenylketonuria
... ... Infants and young children with inborn errors of metabolism (IEM), such as phenylketonuria (PKU) consume low amounts of dietary ... University of Washington Abstract Gut Microbial Community in Infants and Toddlers with and without Phenylketonuria (PKU) ...
  https://digital.lib.washington.edu/researchworks/handle/1773/26332
*  PKU (Phenylketonuria) - Diseases & Conditions | Med Log - Your Everyday Health Blog
Definition of PKU (Phenylketonuria). Phenylketonuria (fen-ul-ke-toe-NU-re-uh) is a birth defect that causes an amino acid ... Symptoms of PKU (Phenylketonuria). Newborns with phenylketonuria initially don't have any symptoms. Without treatment, though, ... Although phenylketonuria is rare, recognizing phenylketonuria right away can help prevent serious health problems. ... Complications of PKU (Phenylketonuria). Untreated PKU can lead to:. *Irreversible brain damage and marked mental retardation ...
  http://medlog.info/pku-phenylketonuria-diseases-conditions-med-log/
*  What Is Biochemistry - Phenylketonuria - Medicalrealm
Besides that patient may also present with other symptoms and signs of phenylketonuria such as eczema, hypertonia, mental ... Patient with phenylketonuria may present with phenylketone in the urine and musty urine odor. ... What Is Biochemistry - Phenylketonuria Phenylketonuria Patient with phenylketonuria may present with phenylketone in the urine ... Phenylketonuria is an autosomal recessive disorder.. Phenylketonuria occurs due to mutation and impairment of the function of ...
  http://www.medicalrealm.net/what-is-biochemistry---phenylketonuria.html
*  Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study - Full Text View - ClinicalTrials.gov
MedlinePlus related topics: Phenylketonuria Genetic and Rare Diseases Information Center resources: Phenylketonuria Inborn ... Phenylketonuria (PKU) is a genetic disorder known to cause severe reduction in intelligence and deficits in cognitive function ... Phenylketonurias. Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases ... Neuropsychological and Quality of Life Outcomes in Untreated Adults With Mild Hyperphenylalaninemia (MHP)/Phenylketonuria (PKU ...
  https://clinicaltrials.gov/ct2/show/NCT01924026?recr=Open&cond=%22Phenylketonurias%22&rank=15
*  Hyperphenylalaninemia - Wikipedia
Phenylketonuria is classed as an autosomal recessive condition: in heterozygous form, [phe] shows a moderate elevation, perhaps ... "OMIM Entry # 261600 - Phenylketonuria; PKU". omim.org. Retrieved 2016-06-03. [permanent dead link] "Basic Medical Biochemistry ... Phenylketonuria (PKU) can result in severe hyperphenylalaninemia. Phenylalanine concentrations ([phe]) are routinely screened ... concentrations in persons with untreated phenylketonuria may be many times that (600µM to 2400µM), which indicate that the ...
  https://en.wikipedia.org/wiki/Hyperphenylalaninemia
*  Phenylketonuria | Encyclopedia.com
Phenylketonuria Definition Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the ... Phenylketonuria Encyclopedia of Public Health COPYRIGHT 2002 The Gale Group Inc.. PHENYLKETONURIA. Phenylketonuria (PKU) is an ... Phenylketonuria Child Development COPYRIGHT 2002 The Gale Group Inc.. PHENYLKETONURIA. Phenylketonuria (pku) is due to a ... Phenylketonuria (PKU) Complete Human Diseases and Conditions COPYRIGHT 2008 Gale Group. Phenylketonuria (PKU). Children with a ...
  https://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/phenylketonuria
*  Plus it
Phenylketonuria. Br Med J 1961; 1 doi: https://doi.org/10.1136/bmj.1.5232.1105-a (Published 15 April 1961) Cite this as: Br Med ...
  http://www.bmj.com/content/1/5232/1105.2
*  PKU (phenylketonuria) | Smore Newsletters
... phenylketonuria) - Brianne Reyes by brianne reyes , This newsletter was created with Smore, an online tool for creating ...
  https://www.smore.com/d2cnj
*  Phenylketonuria (PKU) by Catherine Gonzalez on Prezi
Transcript of Phenylketonuria (PKU). Phenylketonuria (PKU). What gene or chromosome is affected by this disorder ?. PKU is ... Neonatal Phenylketonuria .. What are the prenatal test for this disorder?. A pregnant woman can request a prenatal test of DNA ... No, there is no cure for phenylketonuria. It is a genetic disorder passed down from the parents to the child. The best ...
  https://prezi.com/cda63n9momww/phenylketonuria-pku/
*  Phenylketonuria | University of Maryland Medical Center
Phenylketonuria. Toggle: English / Spanish Definition. Phenylketonuria (PKU) is a rare condition in which a baby is born ... Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on a nonworking copy ... Screening for phenylketonuria (PKU): US Preventive Services Task Force reaffirmation recommendation. Ann Fam Med. 2008;6:166. ... Gassio R. School performance in early and continuously treated phenylketonuria. Pediatr Neurol. Oct 2005; 33(4): 267-71. ...
  http://www.umm.edu/Health/Medical/Ency/Articles/Phenylketonuria
*  Maternal Phenylketonuria | FROM THE AMERICAN ACADEMY OF PEDIATRICS | Pediatrics
PKU-phenylketonuria, Phe-phenylalanine, PAH-phenylalanine hydroxylase, BH4-tetrahydrobiopterin, PAL-phenylalanine ammonia lyase ... Maternal phenylketonuria: a cause of mental retardation in children without the metabolic defect. N Engl J Med. 1963;269 :1404 ... Smith I, Knowles J. Behaviour in early treated phenylketonuria: a systematic review. Eur J Pediatr. 2000;159 (suppl 2):S89- S93 ... Large neutral amino acids block transport into brain tissue in patients with phenylketonuria. J Clin Invest. 1999;103 (8):1169 ...
  http://pediatrics.aappublications.org/content/122/2/445
*  Phenylketonuria | Doctors Hospital
Learn more about Phenylketonuria at Doctors Hospital of Augusta DefinitionCausesRisk ... Phenylketonuria (PKU) is an inherited metabolic disorder in which a person does not have enough of the liver enzyme needed to ... Phenylketonuria: screening and management [National Institutes of Health Consensus Statement, October 16-18, 2000]. National ... Phenylketonuria (PKU) EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T114631/Phenylketonuria- ...
  https://doctors-hospital.net/hl/?/102759/PKU&com.dotmarketing.htmlpage.language=1
*  Using diet to manage phenylketonuria | Cochrane
Using diet to manage phenylketonuria. Phenylketonuria (PKU) is an inherited disease that affects the breakdown of protein. High ... Phenylketonuria is an inherited disease treated with dietary restriction of the amino acid phenylalanine. The diet is initiated ... To assess the effects of a low-phenylalanine diet commenced early in life for people with phenylketonuria. To assess the ... Poustie VJ, Wildgoose J. Dietary interventions for phenylketonuria. Cochrane Database of Systematic Reviews 2010, Issue 1. Art ...
  http://www.cochrane.org/CD001304/CF_using-diet-to-manage-phenylketonuria
*  Phenylketonuria Therapeutic Pipeline Market Review, H2 2017 | Medgadget
Summary Phenylketonuria (also called PKU), is a rare inherited disorder that causes an amino acid c ... Phenylketonuria (also called PKU), is a rare inherited disorder that causes an amino acid called phenylalanine to build up in ... Phenylketonuria Therapeutic Pipeline Market Review, H2 2017. March 20th, 2017 Wiseguy Reports Releases ... Phenylketonuria (PKU) (Metabolic Disorders) pipeline guide helps in identifying and tracking emerging players in the market and ...
  https://www.medgadget.com/2017/03/phenylketonuria-therapeutic-pipeline-market-review-h2-2017.html
*  Phenylketonuria (PKU) - Renal and Urology News
Phenylketonuria (PKU) is an inherited disorder of metabolism of the essential amino acid phenylalanine due to a defect in ... Phenylketonuria can be diagnosed through measurement of phenylalanine in plasma amino acids. Because of the defective enzyme, ... Phenylketonuria (Hyperphenylalaninemia type I, Folling's disease, Phenylpyruvic oligophrenia). *Abnormal Newborn Screen for ...
  https://www.renalandurologynews.com/labmed/phenylketonuria-pku/article/613368/
*  Phenylketonuria: What is it?
Your Genes, Your Health, DNA Learning Center's multimedia guide to genetic, inherited disorders: phenylketonuria, PKU, autosomal recessive, genetic disorder
  http://yourgenesyourhealth.org/pku/whatisit.htm
*  Sapropterin in Individuals With Phenylketonuria - Full Text View - ClinicalTrials.gov
For phenylketonuria, negative pregnancy test if of childbearing potential.. *For phenylketonuria, willing to use contraception ... For phenylketonuria,intention of physician to prescribe sapropoterin.. *For phenylketonuria,phenylalanine level greater than or ... Sapropterin in Individuals With Phenylketonuria. The safety and scientific validity of this study is the responsibility of the ... Individuals with phenylketonuria (PKU) who are beginning treatment with sapropterin.. Drug: Sapropterin (Kuvan) 20mg/kg/day ...
  https://clinicaltrials.gov/ct2/show/NCT00730080?cond=%22phenylketonuria%22&rank=3
*  Liver Cell Transplant for Phenylketonuria - Full Text View - ClinicalTrials.gov
MedlinePlus related topics: Phenylketonuria Genetic and Rare Diseases Information Center resources: Phenylketonuria Inborn ... Liver Cell Transplant for Phenylketonuria. The safety and scientific validity of this study is the responsibility of the study ... Phenylketonuria Radiation: Preparative Radiation Therapy Procedure: Hepatocyte Transplant Drug: Immunosuppression Other: Liver ... Human phenylketonuria (PKU) results from phenylalanine hydroxylase (PAH) deficiency, and represents one of the most common and ...
  https://clinicaltrials.gov/ct2/show/NCT01465100?cond=PHENYLKETONURIA&rank=1
*  Phenylketonuria (PKU)
... Skip to the navigation Topic Overview. What is phenylketonuria (PKU)? Phenylketonuria (PKU) is a rare ... Sapropterin (Kuvan) for phenylketonuria (2008). Medical Letter on Drugs and Therapeutics, 50(1287): 43-44. ... Somaraju UR, Merrin M (2012). Sapropterin dihydrochloride for phenylketonuria. Cochrane Database of Systematic Reviews (12). ... Poustie VJ, Wildgoose J (2010). Dietary interventions for phenylketonuria. Cochrane Database of Systematic Reviews (1). ...
  https://www.lancastergeneralhealth.org/Healthwise/Document.aspx?id=hw44745