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Phenylketonuria-pku Disorder:     more detail

21st Century Ultimate Medical Guide to Phenylketonuria (PKU) - Authoritative Clinical Information for Physicians and Patients (Two CD-ROM Set) by PM Medical Health News, 2009-06-05 Phenylketonuria (PKU) Toolkit - Comprehensive Medical Encyclopedia with Treatment Options, Clinical Data, and Practical Information (Two CD-ROM Set) by U.S. Government, 2009-06-05 2009 Empowered Patient's Complete Reference to Phenylketonuria (PKU) - Diagnosis, Treatment Options, Prognosis (Two CD-ROM Set) by PM Medical Health News, 2009-06-05 Management of PKU Treatment programs for PKU and selected other metabolic diseases in the United States: A survey (DHHS publication) by Virginia E Schuett, 1983 A journey into the world of PKU by Kenneth W Wessel, 1991 S.B. 3018: Mandatory screening tests for PKU (University of Washington. School of Law. Student papers) by David Ward, 1974

lists with details

81. Canadian Directory Of Genetic Support Groups
    National Coalition for PKU Allied Disorders (Homocystinuria, Maple Syrup UrineDisease, Tyroseinemia, Phenylketonuria PKU, Urea Cycle Disorders)  
    http://www.lhsc.on.ca/programs/medgenet/n_sup.htm

82. Resource Library Find Information On Phenylketonuria At
    Phenylketonuria (PKU) is inherited as an autosomal recessive trait (both parentsmust Older children may develop movement disorders (athetosis), rocking and  
    http://mercksource.com/pp/us/cns/cns_hc_men_content_adam.jspzQzpgzEzzSzppdocszSz

83. KinderStart - Health/Medical/Dental : Major Diseases/Conditions : Phenylketonuri
    PKU and Allied Disorders The National Coalition for PKU and Allied Disorders isa Icon Add/View Comments (0) Rate this Site; Phenylketonuria (PKU) PKU is a  
    http://www.kinderstart.com/healthmedicaldental/majordiseasesconditions/phenylket
    
    Extractions: PKU (phenylketonuria), in its "classic" form, is a rare, inherited metabolic disease that results in mental retardation and other neurological problems when treatment is not started within the first few weeks of life. When a very strict diet is begun early and well-maintained, effected children can expect normal development and a normal life span.

84. Dr. Koop - Inborn Errors Of Metabolism
    The disorders are usually caused by defects in the sugar urine disease (MSUD) nutritional considerations; Phenylketonuria (PKU) - nutritional considerations  
    http://drkoop.com/ency/article/002438.htm
    
    Extractions: Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Injury Disease Nutrition Poison ... Side Effects Definition: Inborn errors of metabolism are rare genetic disorders in which the body cannot turn food into energy (metabolize food) normally. The disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components. * All Health Centers * Acne Addictions AIDS/HIV Alcohol Abuse Allergies Alternative Medicine Alzheimer's Arthritis Asthma Attention Deficit Disorder (ADHD) Backache Bipolar Affective Disorder Birth Control Blood Blood Pressure Bone/Joint/Tendon Bowel Brain Breast cancer Cancer Cerebral Palsy Cholesterol Cramps Crohn's Disease Cysts Dental/Oral Depression Diabetes Diet, Fitness, Looks

85. The Strategis Page Has Moved/ La Page Pour Strategis Est Démenagée
    Newborn Screening These tests focus on the identification of metabolic disordersin newborns. One example is the newborn screening for phenylketonuria (PKU).  
    http://strategis.ic.gc.ca/epic/internet/inbac-bec.nsf/en/h_bk00284e.html

86. News And Views - What's New - Expanded Newborn Screening
    In addition to phenylketonuria (PKU) there are other inherited disorders of aminoacid metabolism such as citrullinaemia and methylmalonic acidaemia.  
    http://genetichealthvic.net.au/pages/news&views/NewbornParentInfo.html
    
    Extractions: Newborn Screening has been available to all babies in Victoria for the past 30 years. The newborn screening test (also known as the Guthrie test or the heel prick test) is performed on a blood spot collected by heel prick. Four small drops of blood are placed on special pre-printed filter paper, air dried and sent for processing to the Newborn Screening Laboratory of Genetic Health Services Victoria at The Royal Children's Hospital. At present babies are screened for 3 rare but serious conditions: phenylketonuria, congenital hypothyroidism and cystic fibrosis. From early 2002 the introduction of tandem mass spectrometry will expand screening of babies, by detection of metabolites of a number of serious conditions, such as MCAD deficiency, methylmalonic acidaemia (MMA) and citrullinaemia. Early detection and treatment of these conditions usually results in a better outcome for babies.

87. NeRAGE.org - Germany May Screen All Newborns For 20 Disorders
    to reducing birth defects and infant mortality, lists nine disorders for which newbornsshould be screened phenylketonuria (PKU), congenital hypothyroidism  
    http://www.nerage.org/stories.php?story=02/02/25/5572932

88. Riley Hospital For Children
    Clinical Service include the following Phenylketonuria (PKU) and other aminoacid disorders; Hyperammonemias; Organic acidopathies;  
    http://rileyhospital.org/document.jsp?locid=333

89. DDC Clinic For Special Needs Children - News
    Autism spectrum disorders, Benign infantile hypotonia (?), Maternal Phenylketonuria(PKU), Phenylketonuria (PKU) phenylalanine hydroxylase deficiency, 261600.  
    http://www.ddcclinic.org/sciencemedical_disorderdisease.htm
    
    Extractions: Click on OMIM number to link to the OMIM database. Use your back button to return to the DDC Clinic web site. Genetic / Metabolic Disease OMIM number Adenylosuccinase (adenylosuccinate lyase, ADSL) deficiency Amish brittle hair syndrome Autism spectrum disorders Benign infantile hypotonia (?) Byler disease Cartilage-hair hypoplasia dwarfism Celiac disease Cerebral palsy with late onset Ig A nephropathy (?) Chicken breast disease (Amish nemaline myopathy) Chromosome 8 duplication Cohen syndrome Congenital upper anomalies (sporadic) Crigler-Najjar syndrome Type 1 Down syndrome Familial cleft lip with or without cleft palate Familial craniosynostosis (?) Familial deafness (?) * Familial seizure with mental retardation (?) Ganglioside GM3 synthase (alpha 2,3-sialytransferase) deficiency Hemophilia B – Factor IX deficiency Hypertrophic cardiomyopathy * Hypotonia, ataxia and developmental delay (?) Hypotonia, excessive height, pectus excavatum and mental retardation (Sotos syndrome?) Hypertriglyceridemia – lipoprotein lipase deficiency or apolipoprotein C-II deficiency Infantile lethal cardiomyopathy Juvenile glaucoma, failure to thrive and leukodystrophy (?)

90. Autism Research At The Duke Center For Human Genetics
    behavior. Some of these disorders include Fragile X Syndrome, TuberousSclerosis Complex (TSC), and Phenylketonuria (PKU). When  
    http://autism-pdd.net/autism-gene-research.html
    
    Extractions: Home Site Map Link To Us Contact Us ... Autism Research What is Autism? Autism Research Spectrum Disorders Books on Autism Autism History NIH Research Related Link Related Link Related Link ... Related Link Related Link Related Link Related Link Related Link ... Related Link Autism is a chronic, nonprogressive developmental disorder. Individuals with autism have a unique set of symptoms in three areas: socialization (interaction with others), communication, and behavior. Autism is a common disorder, when other diagnoses such as pervasive developmental disorder (PDD), pervasive developmental disorder (not otherwise specified - PDD-NOS), and Asperger's disorder are included in the spectrum. Autism is a complex genetic disorder thought to be caused by one or more genes, either acting alone or together with other factors. Through the Medical Genetics collaborative research study into the hereditary basis of autism, we hope to find the gene(s) that leads to autism. Finding these gene(s) will provide valuable insight into how the disorder is caused and will hopefully lead to improved diagnostic and treatment modalities. Can Autism Be Inherited?

91. The Gene Letter By GeneSage - Archives
    Newborn screening started in the early 1960s with phenylketonuria (PKU), a disorderleading to profound mental retardation unless the child is placed on a low  
    http://genesage.com/professionals/geneletter/archives/newborn.html

92. Market Research Reports - Business Market Research Reports & Industry Analysis
    Digestive Disorders Gastrointestinal Defects Anal Atresia MucopolysaccharidosesNeonatal Jaundice Omphalocele Phenylketonuria (PKU) Pyloric Stenosis TaySachs  
    http://www.newsletters.com/map/prod/142396.html
    
    Extractions: Life Sciences » Kalorama Information Euromonitor International Business Communications Company Inc. Consumer Goods » Datamonitor Mintel International Group MarketLooks - Packaged Facts Snapshots International ... Canadean Ltd Technology » Yankee Group Paul Budde Communication Espicom Business Intelligence Ltd.

93. Hayward Genetics Center
    Families of individuals with single gene disorders (eg, phenylketonuria PKU, cysticfibrosis, muscular dystrophy), chromosomal abnormalities (Down syndrome  
    http://www.omi.tulane.edu/human_genetics/services.html

94. Few States Offer Adequate Newborn Screening; Most Fall Short Of March Of Dimes R
    The metabolic disorders on the recommended list for screening are phenylketonuria(PKU); congenital hypothyroidism; congenital adrenal hyperplasia (CAH  
    http://www.charitywire.com/charity91/print_04211.html
    
    Extractions: www.marchofdimes.com Tuesday, 29 July 2003 Only nine states make the grade; 18 states offer only 5 tests or fewer. Every baby born in the U.S. undergoes some newborn screening, but few parents may realize that the number of disorders their baby will be screened for depends entirely on the U.S. state in which the baby is born. The March of Dimes recommended in 2000 that all babies receive screening for a minimum of nine metabolic disorders and be given a hearing test. These screenings can sometimes mean the difference between a healthy start in life and disability, or even death, for a baby. The tests recommended by the March of Dimes lead to reliable diagnosis of conditions for which there is a proven treatment for a newborn's metabolic or hearing deficiency. "While nearly all babies born in the U. S. undergo some newborn screening, the number of screened disorders varies greatly by state," said Dr. Jennifer L. Howse, president of the March of Dimes. "While a few states may screen for even more than these nine metabolic disorders, only nine states now provide all nine tests recommended by the March of Dimes. Expansion of newborn screening has been a March of Dimes priority for three years, and our chapters have worked closely with governors, state legislators, and health departments to increase access to these important tests." The March of Dimes is the first national non-profit health organization to recommend that every baby born in the U.S. receive at minimum screening for the same core group of disorders. The metabolic disorders on the recommended list for screening are: phenylketonuria (PKU); congenital hypothyroidism; congenital adrenal hyperplasia (CAH); biotinidase deficiency; maple syrup urine disease; galactosemia; homocystinuria; sickle cell anemia; and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. The March of Dimes and the American Academy of Pediatrics also advise a hearing test for all newborns.

95. MedicalSource.com_D2R: Your Source For Health - Ehendrick - Ehendrick.com
    uremia (toxic accumulation of wastes); nutritional deficiencies; phenylketonuria(PKU) can cause Disorders affecting the blood vessels (such as stroke and TIA  
    http://www.ehendrick.com/healthy/000694.htm

96. DBEH Outline
    Velocardiofacial syndrome; Other genetic disorders. Metabolic disordersPhenylketonuria (PKU); Mucopolysaccharidoses; Purinemetabolism. Endocrine disorders  
    http://www.abp.org/certinfo/subspec/dbeh.htm

97. MediZine Healthy Living
    phenylketonuria (PKU) can rarely cause seizures in infants; other metabolic diseases Disorders affecting the blood vessels (such as stroke and TIA) most  
    http://www.medizine.com/encyclopedia/Ency.aspx?qu=000694.htm

98. HB2043 - 442R - House Bill Summary
    One of the metabolic disorders is Phenylketonuria (PKU). This is an inheritedcondition which prevents individuals from normally  
    http://www.azleg.state.az.us/legtext/44leg/2r/summary/h.hb2043_3-02-00_aspassedt
    
    Extractions: health care insurance; medical foods DPA Committee on Health W/D Committee on Banking and Insurance DPA Caucus and COW X As Passed the House Mandates health insurance coverage for the treatment of inherited metabolic disorders tested under the newborn screening program. Established by statute in 1993, the Arizona newborn screening program screens and identifies newborns with any of seven genetic and metabolic disorders and provides follow-up services to prevent serious health problems such as mental retardation or even death. Health care facilities and health care providers are required to submit newborn blood specimens for testing by the contracting testing lab, currently the state lab. The program contracts with medical professionals to provide follow up for families whose babies are found to have a targeted disorder. One of the metabolic disorders is Phenylketonuria (PKU). This is an inherited condition which prevents individuals from normally metabolizing or using phenylalanine (PHE) one of the essential amino acids found in all protein foods.

99. Family LivingValentine S Day Marks Expansion Of Newborn Screening
    Oklahoma s newborn screening program also screens for the disorders of phenylketonuria(PKU), congenital hypothyroidism, classic galactosemia, and sickle cell  
    http://www.poncacitynews.com/cgi-bin/LiveIQue.acgi$rec=63323?Lifestyle

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