81. SearchUK Home Top Health Conditions_and_Diseases Genetic_Disorders PropionicAcidemia. eMedicine An in depth look at propionic acidemia. http://www.searchuk.co.uk/Top/Health/Conditions_and_Diseases/Genetic_Disorders/P

SearchUK http://searchuk.co.uk/

82. H.E.T.L. Lead Program CPT II Carnitine Palmitoyl Transferase Deficiency Type II · GA II-Glutaric AcidemiaII · Organic Acidemias · PPA-propionic acidemia · MMA-Methylmalonic http://www.state.me.us/dhs/etl/newborn.htm

Welcome to the Last updated: Maine Health and Environmental Testing Laboratory DHS H.E.T.L Sections Mission Rabies ... Lead NEWBORN SCREENING The panel of testing for Newborn Screening will be contracted out in accordance with State of Maine, Division of Purchases guidelines. The price for testing will be determined by the accepted vendor bid and the price will include necessary administrative fees necessary to manage the contract and the program. Currently the panel includes the following conditions: Core Conditions Isoelectric focusing for hemoglobin analysis (for hemoglobinopathies including sickle cell disease and trait) Tandem Mass Spectrometry Analysis, for: Phenylalanine (for PKU Leucine (for MSUD Methionine (for Homocystinuria Medium Chain Acyl CoA Dehydrogenase Deficiency ( MCAD Paigen test or equivalent fluorometric enzymatic assay for galactose (for galactosemia DELFIA for thyroxine (T4) (for congenital hypothyroidism DELFIA for thyrotropin (TSH) on all specimens with borderline or low (T4) levels (for congenital hypothyroidism DELFIA for 17-hydroxyprogesterone (17-OHP) Congenital Adrenal Hyperplasia Deficiency enzyme analysis for Biotinidase Optional Expanded Panel Amino Acid Disorders: Tyrosinemia Type I Tyrosinemia Type II Urea Cycle Disorders: HHH-Hyperammonemia Hyperornithinemia Homocitrullinemia (HHH syndrome) ASL-Argininosuccinic Aciduria ASS-Citrullinemia Argininemia Fatty Acid Oxidation disorders: SCAD-Short Chain acyl-CoA Dehydrogenase Deficiency

83. Wisconsin Newborn Screening Laboratory Newsletter - April 1999 transferase Deficiency Type II (CPTII), Glutaric Acidemia Type II (GA-II), 2,4-Dienoyl-CoAReductase Deficiency, propionic acidemia (PA), Methylmalonic http://www.slh.wisc.edu/newborn/newsletters/1999/news0499.shtml

465 Henry Mall Madison, WI 53706-1578 Phone: (608) 262-1293 FAX: (608) 262-3257 University of Wisconsin Center for Health Services WISCONSIN NEWBORN SCREENING LABORATORY NEWSLETTER Newborn Screening Newsletter April 1999 No. 42 1998 Testing Summary Each year we devote one newsletter to updating you on the laboratory data from the Wisconsin Newborn Screening Program. It is our pleasure to provide the 1998 information and hope you find it interesting and informative. Cumulative and 1998 Newborn Screening Statistics GENERAL STATISTICS (Jan - Dec 1998) Number of infants screened: Number of repeat screens: Total number of samples screened: AGE AT TIME OF SAMPLE COLLECTION AGE (IN HOURS) AT TIME OF INITIAL COLLECTION NUMBER OF INFANTS JAN - DEC 1998 % OF TOTAL CUMMULATIVE % Unknown ENDOCRINE SCREENING INFANTS POSITIVE FOR: JAN - DEC 1998 MAY 1978 - DEC 1998 Hypothyroidism Congenital Adrenal Hyperplasia* 381 (19/yr) 39 (8/yr) *Screening for CAH began in March 1993 METABOLIC SCREENING INFANTS POSITIVE FOR: JAN - DEC 1998 MAY 1978 - DEC 1998 Phenylketonuria (PKU) Galactosemia Biotinidase Deficiency* 146 (7/yr) 25 (1/yr) 6 (1/yr) *Screening for Biotinidase Deficiency began in February 1991 HEMOGLOBINOPATHY SCREENING INFANTS POSITIVE FOR: JAN - DEC 1998 NOV 1988** - DEC 1998 Sickle Cell Disease (FS) Sickle Hemoglobin C Disease (FSC) Hemoglobin C Disease (FC) Sickle Cell Trait (FAS)

84. Open Directory & Pay Per Click Search Engine: Health/Conditions And Diseases/Gen LINKS Cadence's Story The story of one little girl's life with the geneticdisease propionic acidemia. http//wvnvm.wvnet.edu/~ncb00582. http://www.searchpixie.com/Health/Conditions_and_Diseases/Genetic_Disorders/Prop

Need Traffic TrafficGiveAway.com Search the Web Home Toolbar LinkManager bookmark ... Genetic Disorders : Propionic Acidemia LINKS: Cadence's Story The story of one little girl's life with the genetic disease Propionic Acidemia. http://wvnvm.wvnet.edu/~ncb00582 eMedicine An in depth look at Propionic acidemia. http://www.emedicine.com/NEURO/topic577.htm NORD - Acidemia, Propionic Includes the synonyms, a general discussion and further resources. Pediatric Database Offers a definition of propionic acidemia as well as the epidemiology, pathogenesis, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/PROPIONI.HTM HOME ADD A LINK MODIFY A LINK LOGIN ... Affiliate Program

85. Ross.com hyperglycinemia* Propimex® 1, Propimex® -2 Methylmalonic acidemia (vitaminB 12 -nonresponsive)* propionic acidemia* ProViMin® Abetalipoproteinemia http://rpdcon40.ross.com/pn/PediatricProducts.NSF/web_Ross.com_XML_MetabolicProd

86. Minnesota Children With Special Health Needs (MCSHN) Newborn Screening Disorders Mitchondrial AcetoacetylCoA Thiolase Deficiency (3-Ketothiolase Def.).Multiple CoA Carboxylase Deficiency (MCD). propionic acidemia (PA). http://www.health.state.mn.us/divs/fh/mcshn/nbsdis.htm

MINNESOTA CHILDREN WITH SPECIAL HEALTH NEEDS (MCSHN) NEWBORN METABOLIC SCREENING DISORDERS INCLUDED IN THE NEWBORN SCREEN The following diseases are detectable by the Newborn Screening panel. Please click on the name of a disorder or the group of disorders for additional information: Amnio Acid Disorders Caused when the body cannot break down certain components of protein. The most well known disorder of this type is PKU. Phenylketonuria (PKU) Problem in breaking down one particular amino acid in protein-phenylalanine. If not treated by diet, PKU can cause mental retardation and seizures. Other amino acid disorders that are detectable by Newborn Screening: Argininemia Argininosuccinic Aciduria (ASA Lyase Deficiency) Citrullinemia (ASA Synthetase Deficiency) Hyperglycinemia (nonketotic) Hypermethioninemia Homocystinuria (Cystathione synthase deficiency) Hyperornithinemia, Hyperammoninemia, Hyperhomocitrullinuria (HHH Syndrome)

87. NORD - Acidemia, Propionic Includes the synonyms, a general discussion and further resources. http://www.stepstn.com/cgi-win/nord.exe?proc=Redirect&type=rdb_sum&id=50

88. Katalog - Wirtualna Polska Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce. http://katalog.wp.pl/DMOZ/Health/Conditions_and_Diseases/Genetic_Disorders/Propi

Poczta Czat SMS Pomoc Szukaj.wp.pl: -Katalog -Polskie www -¦wiatowe www -Wirtualna Polska -FTP/Pliki -Grupy dyskusyjne -Encyklopedia -Produkty wp.pl Katalog Katalog ¦wiatowy DMOZ ... Conditions and Diseases > Genetic Disorders Fakty o Katalogu Pomoc Regulamin Serwis szukaj ... Ostatnio dodane NAWIGACJA Fakty o katalogu Pomoc Regulamin Serwis Szukaj ... FAQ Dodaj stronê Katalog WP Polskie Strony WWW Oferta dla firm WP-HIT ... Wirtualna Polska

89. EPEC - Educating Parents Of Extra-special Children - Various Disorders Educating Parents of Extraspecial Children (EPEC) A resource of informationfor adults with special needs and parents with special needs children. http://www.epeconline.com/VariousDisorders.html

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. Various Disorders Self Defense Tips and Tricks For Women - Click Here The Single Mom's Survival Guide - Click Here In our links below, we have provided you with the diagnosis, definition, symptoms and helpful links of the various disabilities listed. 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC) ACC ADD-ADHD Adrenoleukodystrophy (ALD) ... Zellweger Syndrome A Division of Richardson Enterprises Content Rating Any comments or questions about this site, please contact the Richardson Enterprises

90. Presentacion Pombo, LR.Desviat, J. Hoenicka, B. Pérez, E. Richard, S. Muro and M. Ugarte http://www2.cbm.uam.es/cedem/comcong5.html

COMUNICACIONES A CONGRESOS 121. "Consideraciones metodológicas en el diagnóstico de acidurias orgánicas: Importancia de los metabolitos diagnósticos". L.M. Font, J. A. Gangoiti, M.J.García, B. Merinero, C. Pérez-Cerdá y M. Ugarte. Errores Innatos del Metabolismo. 1er. Congreso Nacional. Zaragoza 1.996. 122. "Biotinidase deficiency: a casse of early diagnosis" C. de Alba, I. Olmedo, M.T. García Silva, E. Martín Hernández, M. Ugarte, MJ García. XVth European Congress of Perinatal Medicine. Glasgow. September 1996 123. "Molecular analysis of propionic acidemia in Spain" C. Pérez-Cerdá, P. Rodríguez Pombo, L.R.Desviat, J. Hoenicka, B. Pérez, E. Richard, S. Muro and M. Ugarte. 34th Meeting of the SSIEM. Cardiff 1996. 124. "First report on mutation analysis of Propionic acidemia in Latin America" P. Rodríguez Pombo, C. Pérez-Cerdá, J. Hoenicka, L.R. Desviat, B. Pérez, S. Muro, E. Richard, V. Cornejo, R. Giugliani, M. Wahner and M. Ugarte. ASHG 46th Annual Meeting. San Francisco 1996. 125. "Genotype analysis in Spanish phenylketonuria patients" L.R. Desviat, B. Pérez and M. Ugarte. ASHG 46th Annual Meeting. San Francisco 1996. 126. "Phenylketonuria in Venezuela: presence of two novel mutations" B. Pérez, M. de Lucca, L.R.Deviat, J. Villegas, S. Arias and M. Ugarte. ASHG 46th Annual Meeting. San Francisco 1996.

91. Optional Disorders - New England Newborn Screening Program - UMass Medical Schoo newborn screening program optional disorders Optional Disorders.In Massachusetts, you will have the option of having your baby http://www.umassmed.edu/nbs/screenings/disorders/optional.cfm

directory contact us index Home ... What Parents Should Know Screening Programs Routine Optional List of Disorders Routine Optional Pilot Programs Pilot Study #1 Pilot Study #2 FAQ's Brochures ... newborn screening program: optional disorders Optional Disorders In Massachusetts, you will have the option of having your baby screened for early signs of the following disorders: (no additional blood required) Pilot Study #1: Cystic Fibrosis Pilot Study #2: A Group of 19 additional metabolic disorders The following links will open in a new browser window over this window. Tyrosinemia I Tyrosinemia II HMG Lyase Deficiency Argininosuccinic Aciduria ... ß-Ketothiolase Deficiency [2-methylacetoacetyl-CoA thiolase deficiency] Additional Pages About SCREENING PROGRAMS Routine Newborn Screening Routine Disorders Optional Newborn Screening Pilot Program #1 Pilot Program #2 GO! INTRANET top print ... feedback -CE This is an official Page/Publication of the University of Massachusetts Worcester Campus New England Newborn Screening Program Questions or comments? Email:

92. Mass Screens deficiency, Methylmalonic Aciduria, X, Phenylketonuria, 111,000, PropionicAcidemia, SCAD shortchain acyl-CoA dehydrogenase deficiency, ß http://www.mgh.harvard.edu/children/prof/genetics/Mass_screening_tests.htm

Home Up Diseases Screened in Massachusetts Mass Dept of Public Health Vermont Screening Procedures Title 2 Title 3 Title 4 Links Title 1 Title 2 Title 3 Title 4 Title 5 Research at MGH Title 1 Title 2 Title 3 Title 4 Title 5 Title 6 Required Disorder Incidence Argininemia Argininosuccinic Aciduria X Biotinidase Deficiency Citrullinemia X Congenital Adrenal Hyperplasia X Congenital Hypothyroidism X Congenital Toxoplasmosis CPT Deficiency X Galactosemia Glutaric Acidemia I Glutaric Acidemia II X Hemoglobin Disorders Hgb SS 1:400 black Americans HHH Syndrome HMG Lyase Deficiency X Homocystinuria Isovaleric Acidemia LCAD [long-chain acyl-CoA dehydrogenase deficiency] LCHAD [long-chain hydroxyacyl-CoA dehydrogenase deficiency] X Maple Syrup Urine Disease X Medium-chain acyl Co-A dehydrogenase deficiency Methylmalonic Aciduria X Phenylketonuria Propionic Acidemia SCAD [short-chain acyl-CoA dehydrogenase deficiency] ß-Ketothiolase Deficiency [2-methylacetoacetyl-CoA thiolase deficiency] ... Table of contents

93. ¸ÅÀϸ¾¸¶ '¿ì¸®¾ÆÀÌ' The summary for this Korean page contains characters that cannot be correctly displayed in this language/character set. http://urii.maeil.com/product/pro05_4.htm

Propionic acidemia¿Í Methylmalonic academia Áõ»óÀÌ ÀÖ´Â ¾Æ±â¸¦ À§ÇÏ¿© Á¶Á¦µÇ¾úÀ¸¸ç, ¸ÞƼ¿À´Ñ°ú ¹ß¸° ´ë½Å À̼ҷÎÀ̽Å, Æ®·¹¿À´Ñ, ±Û¸®½ÅÀÌ ¼Ò·® ÇÔÀ¯µÇ¾î ÀÖ½À´Ï´Ù. ½Å»ý¾Æ¿¡¼­ 3¼¼±îÁöÀÇ ¾Æ±â ¿µ¾ç ¿ä±¸·®¿¡ ÀûÇÕÇÏ°í, Ÿ¿ì¸°ÀÌ Á¦Ç° 100g ´ç 60§·ÀÌ ÇÔÀ¯µÇ¾î ÀÖ½À´Ï´Ù. ¿­·®ÀÇ ¾à 7.4%´Â Linoleic acid·Î °ø±ÞÇÏ¿© ÇʼöÁö¹æ»êÀÇ °áÇÌ Áõ»óÀÌ ¾øµµ·Ï Á¶Á¦µÇ¾ú½À´Ï´Ù. 1. ¸ÅÀÏ MPA Formula´Â Propionic acidemia¿Í Methylmalonic acidemia Áõ»óÀÌ ÀÖ´Â 5. ¿­¾çÀÇ ¾à 7.4%´Â Linoleic acid·Î °ø±ÞÇÏ¿© ÇʼöÁö¹æ»êÀÇ °áÇÌÁõ»óÀÌ ¾øµµ·Ï

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