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    Archived pages: 157 . Archive date: 2014-05.

  • Title: AADC Research Trust | Home
    Descriptive info: .. Home.. AADC.. About Us.. Charity Background.. Board of Directors.. Patron.. Mission Statement.. Medics Scientists.. About AADC.. Medical and Scientific Advisory Board.. Testing laboratory s.. Literature Database.. By Leading Author.. Chronological List.. By Journal.. By Medical Reference.. By Country of Origin.. Patient Database.. Research Grants.. AADC Families.. What do I do now?.. Associated Symptoms.. Is AADC Inherited ?.. Who gets AADC ?.. What is the AADC deficiency ?.. A diagram of AADC function.. Neurotransmitters.. Medication Available.. Meet other AADC families.. Patient Grants.. Fundraising.. Case Stories.. Geordan Andrew Tomlinson.. The Tawara Twins.. News.. YouTube.. AADC Supporters.. AADC Explained.. Volunteer/Support.. eBear s Attic.. Join Our Social Networks.. Thank Q s.. Gallery.. Contact Us.. AADC deficiency is a rare genetically inherited brain disease affecting boys and girls equally.. AADC deficiency results in a lack of essential neurotransmitters; Dopamine and Serotonin.. AADC deficiency has been identified in over 30 countries.. AADC deficiency causes catastrophic changes to a family s life.. AADC deficiency has proved fatal for some children.. Search.. MedlinePlus.. :.. or use the Medline.. Dictionary.. Campaign.. ‘.. AADC Gene Therapy Appeal - A Ray of Sunshine and HOPE!’.. read more.. Volunteer.. We are currently recruiting volunteers to help with.. Be part of the backbone of our cause … ideas to inspire!.. Welcome to the AADC Trust website.. The AADC Research Trust was founded in 2006 and it had a very specific purpose….. To globally disseminate as much medical and scientific information and improve disease awareness about ‘Aromatic Amino Acid Decarboxylase (AADC) deficiency’.. To raise 1,000’s of pounds to fund AADC medical and scientific research through sponsorships, organised events and its charity shop, eBear’s Attic.. To comfort and support newly diagnosed AADC families, as well as continuing to assist families previously diagnosed, whom we have come to love and respect over the years.. Since our inception, the discovery of over 100 children Worldwide, spanning more than 30 countries leads us to ask ourselves "exactly how rare can this condition be when any child, from any culture or any country can be affected?”.. Children affected by this genetically inherited neurotransmitter brain disease, Aromatic Amino Acid Decarboxylase deficiency, ‘AADC’ for short, are extremely unwell with a complex compilation of symptoms.. Many of its characteristic’s include breathing difficulties, excessive drooling and sweating, autonomic instability and gastrointestinal difficulties.. Motor function is usually severe with disorganised muscle tone; fluctuating between (decreased) floppiness and (increased) rigidity.. For 99% of affected children, the most problematic symptom (but not necessarily the most life threatening) is the oculogyric crisis (OGC); eyes deviate upwards, maybe to one side and can remain in a  ...   find those markers!.. It is an actuality that children worldwide suffering with AADC deficiency may be misdiagnosed with conditions such as cerebral palsy, myasthenia gravis and seizure disorders to name a few.. Once diagnosed with AADC deficiency, a trial of several medications, usually used for the treatment of adults with Parkinson’s disease, would ensue.. These medications, when combined, have the potential to enhance their chronic and severe disabled state.. Improvements can range from negligible to substantial, depending on the severity of their disease.. An AADC-AAV Gene Therapy trial, originally designed for the treatment of Parkinson’s disease, has recently been given the go ahead by the FDA in the USA for AADC deficiency…this is a major step forward for children suffering with this disease.. I apologise for such a lengthy introduction to our children and our cause but there is no quick and easy way to explain such a complex and disabling brain disease….. Please feel free to explore the links throughout this site.. If you would like to know more in-depth details, about one of the World’s rarest neurological neurotransmitter brain diseases!.. We are always looking for fresh ideas and new support.. If you feel you can get involved, in whatever capacity, your input would be hugely appreciated.. Please find time to take a look at our links on the left of the home page and see if you would like to be involved.. Any help you can give would be so worthwhile in helping to change these beautiful children’s lives.. Gene therapy for aromatic l-amino acid decarboxylase deficiency (2012).. Read Publication.. Evaluation of comprehensive two-dimensional gas chromatography coupled to time-of-flight mass spectrometry for the diagnosis of inherited metabolic disorders using an automated data processing strategy (2010).. Urinary dopamine in aromatic l-amino acid decarboxylase deficiency: The Unsolved Paradox.. (2010).. New Members join the Trust’s Medical and Scientific Advisory Board.. July 2012.. Read Full Story.. Next Story Title.. Text goes here.. Text goes here.. British 10k London Run.. Sponsor our runners by donating on their Just Giving page.. More details.. Bear Grills Nuts Challenge BBQ Fundraiser.. Saturday 31st August 2013 (A day out for participants and supporters).. Bear Grills is looking for teams of Bears to take on this 7k (1 lap) or 14k (2 laps) adventurous Nuts Challenge!.. Golf Tournament Dinner Dance.. Friday 13th September (we are making it lucky by fundraising!) at Woldingham Golf Club, Warlingham.. Ebears Attic.. Active eBay Listings From Auction Nudge.. Tweets by @AADCTRUST.. Privacy.. |.. Disclaimer.. Copyright 2014.. AADC Research Trust.. UK Registered Charity No.. 1114367 All Rights Reserved.. | Powered by:.. ROI Designs..

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  • Title: AADC Research Trust | AADC
    Descriptive info: You are here:.. The Facts.. The links within AADC are provided to inform the reader more about the disease.. Please use the medline link and dictionary to help with terminology and words you do not understand.. Links.. What does AADC Deficiency stand for?.. Are there other term used to describe AADC?.. What is the disease AADC Deficiency?.. A diagram of AADC.. What are neurotransmitters?.. How does AADC deficiency affect the brains Neurotransmitters?.. What is Dopamine and Serotonin?.. Symptoms.. Symptoms Associated with AADC.. Will my child survive living with AADC Deficiency?.. Diagnosing.. Can any Physician or Consultant diagnose AADC Deficiency?.. How is AADC Deficiency diagnosed?.. Where does my child's sample go to confirm AADC Deficiency?.. Who gets AADC?.. Is AADC an inherited condition?.. Treating.. What medications are available to treat AADC Deficiency?..  ...   whole family have to have a test?.. Where can I go for help to find out more about AADC deficiency?.. AADC is a genetically inherited neurological disorder affecting the brains ability to produce neurotransmitters, dopamine and serotonin; two of the most essential neurotransmitters needed for every day living!.. AADC deficiency presents early in life with hypotonia, hypokinesia, Oculogyric Crisis (known as a spell/attack), autonomic dysfunction, dysphoric mood, and sleep disturbance.. Affected children can also show a number of movement disorders, most frequently dystonia.. Diurnal fluctuation and improvement of symptoms after sleep is a characteristic of AADC.. The severity of symptoms experienced by each affected child varies, but the majority of children show minimal motor development in the absence of treatment.. Please explore the links above to find out more about the disease..

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  • Title: AADC Research Trust | About Us
    Descriptive info: About-Us.. Jake s Story - BBC Critical Conditions.. Jake s oculogyric crisis without dystonic attacks.. Jake's oculogyric crisis without dystonic attacks.. AADC deficient Gavin learns to walk with help of Parkinsons medication.. AADC spell - Sydney in Oculogyric Crisis.. AADC child- Aromatic L Amino Acid Decarboxylase Deficiency, Oculogyric Crisis.. AADC spell - Laini Oculogyric Crisis.. Breathing stick helping increase air intake.. Lu Lu steering her power chair!.. Laini learning to use power chair.. Quem viver, verá - Daniel Filho.. FILHO: a mamãe ama muito você, viu, MEU CAMPEÃO! "Quem viver verá".. Eu não existo longe de você.. A mamãe ama muito você, meu anjinho!!! Obrigada por fazer a minha vida muito mais cor-de-rosa!!!.. Jacqui Emma Take to the Sky s for charity.. As a co-director of The AADC Research Trust involved in the never ending task of fundraising I try to think of ways to raise money as well as setting myself a personal challenge.. AADC March 2012 Nuts Challenge.. On the 3rd March 2012 6 men took on the 7km Nuts Challenge assult course to raise funds for our charity, Richard, Nico, Charlie, Ben, Jordan and James all agreed  ...   Children's Gallery.. The AADC Research Trust.. Welcome to The AADC Research Trust, aCharity Organisation dedicated to helping children and their families, around the World, affected by Aromatic Amino Acid Decarboxylase Deficiency (AADC).. AADC is a genetically inherited neurological disorder affecting the brains ability to produce neurotransmitters, dopamine and serotonin.. These are two of the most essential neurotransmitters needed for every day living! (more detailed information can be found under ‘aadc explained’).. The AADC Research Trust hopes to:.. help support children with Aromatic Amino Acid Decarboxylase Deficiency (AADC).. promote worldwide disease awareness.. fund scientific research.. We currentlyknow of 100 children, spanning 26 different countries who have been correctly diagnosed with AADC deficiency.. It has proved fatal to at least 7 of those children.. Registered Charity: 1114367.. Registered in England and Wales: 5407899.. Contact Information.. E-mail:.. enquiries@aadcresearchtrust.. Telephone:.. +44 (0) 208 651 6450.. Address:.. The AADC Research Trust, t/as eBear's Attic Tea Room Charity Boutique, 320 Limpsfield Road, Warlingham, Surrey CR2 9BX.. Donations to eBear s attic.. Please contact us at:.. The AADC Research Trust.. t/as eBear's Attic Tea Room Charity Boutique.. 320 Limpsfield Road.. Warlingham.. Surrey.. CR2 9BX.. Tel: 0208 651 6450..

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  • Title: AADC Research Trust | Charity Background
    Descriptive info: Charity-Background.. Who we are.. Tony and Lisa Flint’s son Jake, now 13, suffers with one of the World’s most rare and complex brain diseases; Aromatic Amino Acid Decarboxylase (AADC) deficiency.. Their personal and extensive experience with the disease and at the time, severe lack of global support and research, inspired them in 2006 to found The AADC Research Trust.. The AADC Trust was formed with the help of Co-Directors Jacqui and Brian Jefferies, Medical and Scientific Director, Professor Simon Heales and of course with the support of family, friends and supporters..

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  • Title: AADC Research Trust | Board of Directors
    Descriptive info: Board-of-Directors.. AADC Events Diary.. May - 2014.. Sun.. Mon.. Tue.. Wed.. Thu.. Fri.. Sat.. 1.. 2.. 3.. 4.. 5.. 6.. 7.. 8.. 9.. 10.. 11.. 12.. 13.. 14.. 15.. 16.. 17.. 18.. 19.. 20.. 21.. 22.. 23.. 24.. 25.. 26.. 27.. 28.. 29.. 30.. 31.. Lisa Flint.. Managing Director.. T: + 44 (0) 1883 627150.. E:.. lisa@aadcresearch.. Simon Heales BSC, PhD, FRCPath.. Medical and Scientific Director (Trust).. Professor of Clinical Chemistry.. ACADEMIC.. Molecular and Genetics Unit..  ...   Ormond Street Hospital.. Great Ormond Street.. London WC1N 3JH (UK).. T: + 44 (0) 207 837-3611.. Ext 3844.. sheales@ion.. ucl.. ac.. uk.. Tony Flint.. Company Secretary.. T: + 44 (0)1883 627150.. tony@aadcresearch.. Jacqui Jefferies.. Director.. T/F: + 44 (0) 1342 870954.. Jacqui@aadcresearch.. Brian Jefferies.. Brian@aadcresearch.. Clive Sparks.. Treasurer.. Ledger Sparks Ltd.. Airport House.. Suite 43-45 Purley Way.. Croydon.. Surrey.. CR0 0XZ – UK.. T: + 44 (0) 208 781 1940.. F: +44 (0) 208 781 1889.. clive@aadcresearch..

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  • Title: AADC Research Trust | Patron
    Descriptive info: Patrons.. Our Very Special Celebrity Patron, Friend, Supporter and Amazing Woman.. 'Gabrielle'.. Having already worked so hard for the AADC Research Trust, we're proud to announce that pop diva Gabrielle has officially nominated us as her chosen charity.. The star, who has enjoyed a string of worldwide hits, has proved an invaluable patron to the AADC, attending both of our sponsored walks and our fund-raising gala in May where she performed her greatest hits to rapturous applause.. She also brought the house down at our successful barn dance last year when she staged a mini concert, much to everyone's delight.. What's more, she's always been incredibly generous in giving up her valuable time to sign autographs and be photographed with her fans - over and beyond the call of duty, we're sure you will agree!.. I know all of you  ...   back into the limelight.. and how brilliantly she manged it after just completing her amazing.. 2008 UK Tour.. She may be busy for the next few months as her career will no doubt soar once again, but Gabrielle will be keeping in close contact with the AADC and we know we can rely on her.. In fact Gabrielle endorsed her support by dedicating the entire back page of her 2008 Tour Brochure to the The AADC Research Trust and has promised to link our website to hers - fantastic news!.. Thank you for helping to raise the profile of this Trust and being instrumental in raising AADC disease awareness.. Gabrielle, we wish you every success and look forward to seeing you soon.. From all the families and children suffering with AADC deficiency.. Click on the image to visit Gabrielles's website..

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  • Title: AADC Research Trust | Mission Statement
    Descriptive info: Mission-Statement.. our mission.. advocate AADC throughout the medical and healthcare profession in the UK, Europe and International Community.. our hope.. make AADC a much more discussed, tested and treated disease when children present with a neurological problem to their treating consultants.. our purpose.. support families and children suffering with AADC.. our intention.. provide information pamphlets, literature and web site updates.. our aim.. provide disease information literature at relevant international medical conferences.. our goal.. to raise funds for scientists to research and discover better treatments, in order to save, prolong and improve the quality of our precious children’s lives..

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  • Title: AADC Research Trust | Medical and Scientific Advisory Board
    Descriptive info: Medical-and-Scientific-Advisory-Board.. Medical Scientific Advisory Board.. The AADC Research Trust Medical and Scientific Director.. The AADC Research Trust Medical and Scientific Chairman.. Simon Heales PhD.. Neurometabolic Unit.. National Hospital.. Queen Square.. London.. WC1N 3 BG.. UK.. Tel:.. + 44 (0) 207 837 3611 ext.. 3844.. Email:.. Keith Hyland, Ph.. D.. Vice President.. Medical Neurogenetics, LLC.. Atlanta.. GA 30342.. USA.. +1 678 597 5659.. Fax:.. +1 678 225 0212.. khyland@mnglab.. UK – Medical and Scientific Advisors.. International – Medical and Scientific Advisors.. Professor Peter Clayton.. GOSHCC Professorial Research Associate.. ICH - Clinical Molecular Genetics.. Dept of Genes, Dev Disease.. Faculty of Population Health Sciences.. Institute of Child Health UCL.. London.. WC1N 1EH.. +44 (0) 207 905 2628.. +44 (0) 207 404 6191.. Email:.. peter.. clayton@ucl.. Prof.. Dr.. Nenad Blau.. Senior Consultant in Biochemical Genetics.. Division of Inborn Metabolic Diseases.. University Children's Hospital.. Department of General Pediatrics.. Im Neuenheimer Feld 430.. D-69120 Heidelberg.. Germany.. Tel:.. +49 6221 56 38433.. nenad.. blau@med.. uni-heidelberg.. de.. Dr John M.. Land.. Clinical Lead Biochemical Medicine.. UCLH NHS Foundation Trust.. Neurometabolic Trust.. Neurometabolic Unit Box 105.. London WC1N 3BG.. + 44 (0) 207 829 8768.. john.. land@uclh.. nhs.. Professor Georg F.. Hoffmann.. Chairman - Department of General Paediatrics.. Managing Director / Centre for Paediatric and Adolescent Medicine,.. Director Clinic I (General Paediatrics Metabolism, Gastroenterology, Nephrology).. Director of Clinic V (Paediatric Neurology, Paediatric Social Centre).. University of Heidelberg.. 0049-6221-564100.. 0049-6221-564339.. georg.. hoffmann@med.. Paul Gissen.. Wellcome Trust Senior Research Fellow in Clinical Sciences.. UCL Institute of Child Health and MRC Laboratory for Molecular Cell Biology.. Consultant in Paediatric Metabolic Medicine..  ...   Marcel M.. Verbeek,.. Neurochemist, Associate Professor,.. Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour,.. Department of Neurology,.. Mailing address: Laboratory of Pediatrics and Neurology,.. 830 LKN, P.. O.. Box 9101.. 6500 HB Nijmegen, The Netherlands.. Visitors: Geert Grooteplein 10, Route 830, room 4.. 18.. + 31 24 3615192 / 3614567 / extn: *2309.. + 31 24 3668754.. m.. verbeek@cukz.. umcn.. nl.. Website:.. www.. neurochemistry.. David C Gaze.. Cardiac Research Scientist.. Chemical Pathology.. St George’s Healthcare NHS Trust.. London SW17 0QT.. + 44 (0) 20 8725 5878.. + 44 (0) 20 8682 0744.. david.. gaze@stgeorges.. Dr M.. A.. P.. Willemsen, MD, PhD.. Associate professor in pediatric neurology.. Head of the Department of Pediatric Neurology.. Radboud University Nijmegen Medical Centre.. Department of Pediatric Neurology (820 IKNC).. PO Box 9101.. NL-6500 HB Nijmegen.. The Netherlands.. + 31 24 3614654.. +31 24 3617018.. E-mail:.. willemsen@cukz.. Krystof Bankiewicz, M.. , Ph.. Professor of Neurosurgery and Neurology,.. Kinetics Foundation Chair in Translational Research,.. Vice Chairman, Neurological Surgery,.. Director, Translational NeuroTherapy Center,.. University of California, San Francisco,.. Mission Center Building, BOX 0555.. 1855 Folsom Street, Room 226.. San Francisco, CA 94103.. 415.. 502.. 3132.. 514.. 2777.. Krystof.. Bankiewicz@ucsf.. edu.. Wang-Tso Lee, MD, PhD.. Director of Child Neurology.. Department of Pediatrics.. National Taiwan University Hospital.. 7, Chung-Shan South Road.. Taipei 100.. Taiwan.. + 886 2 231 23456 ext: 9801495.. + 886 2 239 34749.. leeped@hotmail.. Dr THONG Meow Keong.. Clinical Geneticist Professor.. Genetics Metabolism Unit, Department of Paediatrics.. Faculty of Medicine.. University of Malaya.. 50603 Kuala Lumpur.. MALAYSIA.. +60 603-79492065.. +60 603-79556114.. thongmk@um.. my..

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  • Title: AADC Research Trust | Testing Laboratory
    Descriptive info: Testing-Laboratory.. Testing Laboratory.. Simon Heales PhD.. + 44 207 837 3611 ext.. Email.. :.. USA (DNA Analysis Available).. Keith Hyland PhD.. Director, Department of Neurochemistry.. Horizon Molecular Medicine.. One Dunwoody Park.. Suite 250.. GA 30338.. USA.. + 1 678 597 5659.. khyland@horizonmedicine.. Germany.. Georg F.. Hoffmann MD.. University of Heidelberg.. Im Neuenheimer Feld 153.. 69120 Heidelberg.. + 49 06 221 562302.. + 49 06 221 564339.. Georg.. Hoffmann@med.. Switzerland.. Nenad Blau PhD.. Professor of Clinical Biochemistry.. Division of Clinical Chemistry and Biochemistry.. University Children's Hospital.. Steinwiesstrasse 75.. CH-8032 Zürich.. + 41 1 266 7544.. + 41 1 266 7169.. blau@kispi.. unizh.. ch.. Australia.. John Earl PhD.. Head Australasian Neurochemistry Laboratory.. Development Biochemist, Deputy  ...   Verbeek.. Neurochemist.. Radboud University.. Nijmegen Medical Centre.. Department of Neurology.. Laboratory of Pediatrics and Neurology.. 830 LKN.. P.. 6500 HB Nijmegen.. The Netherlands.. + 31 24 3615192 / 3614567 / ext: 2309.. Fax:.. Rafael Artuch or Aida Ormazabal.. + 34 93 280616900.. Taiwan (DNA Analysis Available).. Wang-Tso Lee, MD, PhD,.. Director of Child Neurology,.. Department of Pediatrics,.. National Taiwan University Hospital,.. 7, Chung-Shan South Road,.. Taipei, Taiwan.. + 886-2-23123456 ext: 9801495.. + 886-2-23934749.. France (DNA Analysis Available).. Laurence Christa, PhD.. Metabolic Biochemical Laboratory.. Necker Hospital.. 149-161 rue de Sèvres.. 75743 Paris Cedex 15.. France.. Tel :.. 33 1 44 38 15 54.. Fax.. : 33 1 44 49 51 30.. laurence.. christa@parisdescartes.. fr..

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  • Title: AADC Research Trust | Literature Database
    Descriptive info: Literature-Database.. Literature Database Filter.. AADC LITERATURE DATABASE.. Welcome to the AADC research literature database.. This resource contains peer reviewed publications of reviews, original investigations and clinical aspects relating to Aromatic Amino Acid Decarboxylase (AADC) Deficiency dating back to when the disease was first diagnosed.. All Publications have been listed under several different headings for easy access depending on your area of interest.. Included are links to the journal of the papers cited.. Full text may be available free of charge for older papers.. Papers may be downloaded in pdf format and will require adobe  ...   a pay per view price according to the terms and conditions of the individual journals.. Please refer to each website for these.. Those who have an academic or personal Athens log on may download the articles for free if their subscription/institutional contract includes the journal of interest.. The site is quite comprehensive and regular updates will be made.. For any assistance with this on line AADC literature resource, or If you know of any resources which may be of benefit to other readers, contact George Allen at gallen@dundee.. uk or David Gaze at david..

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  • Title: AADC Research Trust | By Leading Author
    Descriptive info: By-Leading-Author.. Alphabetical List Of Publications Relating To AADC Deficiency By Leading Author.. Abdenur J.. E.. , Abeling N.. A.. , Specola N.. , Jorge L.. , Schenone A.. B.. , van Cruchten A.. C.. and Chamoles N.. (2006) Aromatic L-aminoacid decarboxylase deficiency: Unusual neonatal presentation and additional findings in organic acid analysis.. Molecular Genetics and Metabolism 87, 48-53.. READ PUBLICATION.. Abeling N.. G.. M.. , van Gennip A.. H.. , Barth P.. , Westra M.. and Wijburg F.. (1998) Aromatic L-amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings.. Journal of Inherited Metabolic Disease.. 21,.. 240-242.. , Brautigam C.. , Hoffmann G.. F.. , Wevers R.. , Jaeken J.. , Fiumara A.. , Knust A.. and van Gennip A.. (2000) Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency.. 23,.. 325-328.. Allen G.. , Ullah Y.. , Land J.. and Heales S.. (2010) Dopamine May Influence Brain Glutathione: Implications for Aromatic L-Amino Acid Decarboxylase Deficiency and Other Inherited Conditions of Dopamine Metabolism.. 33,.. S164.. Conference Abstract.. J.. R.. (2009) A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency.. Molecular Genetics and Metabolism.. 97,.. 6-14.. , Neergheen V.. , Oppenheim M.. , Fitzgerald J.. , Footitt E.. , Hyland K.. , Clayton P.. T.. (2010) Pyridoxal 5'-phosphate deficiency causes a loss of aromatic l-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic l-amino acid decarboxylase and vitamin B-6 deficiency states.. Journal of Neurochemistry.. 114,.. 87-96.. Anselm I.. and Darras B.. (2006) Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency.. Pediatr.. Neurol.. 35,.. 142-144.. Barth M.. , Chaabouni Y.. , Hubert L.. , Serre V.. , Bahi-Buisson N.. , Cadoudal M.. , Rabier D.. , Nguyen The Tich S.. , Bonneau D.. , Ribeiro M.. , Munnich A.. , de Lonlay P.. and Christa L.. (2010) Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic acid decarboxylase deficiency.. S165.. Berkowitz D.. and Ganesh A.. (2006) Combined general and regional anesthetic in a child with aromatic L-amino acid decarboxylase deficiency.. Anesthesia and Analgesia.. 103,.. 1630-1631.. Free full text available.. Brautigam C.. , Sharma R.. K.. and Hoffmann G.. (2000) The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: Biochemical findings in two patients.. 321-324.. , Wagner L.. , Stock G.. , Heitmann F.. (2002) Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.. Neuropediatrics.. 113-117.. Brun L.. , Ngu L.. , Keng W.. , Ch'Ng G.. S.. , Choy Y.. , Hwu W.. L.. , Lee W.. , Willemsen M.. , Verbeek M.. , Wassenberg T.. , Regal L.. , Orcesi S.. , Accorsi P.. , Tonduti D.. , Testard H.. , Abdenur J.. , Tay S.. , Allen G.. , Heales S.. , Kern I.. , Kato K.. , Burlina A.. , Manegold C.. and Blau N.. (2010) Laboratory Diagnosis, Treatment, and Follow-Up of 78 Patients with Aromatic L-Amino Acid Decarboxylase Deficiency.. S161.. , Kato M.. (2010) Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.. Neurology.. 75,.. 64-71.. (2010) Diagnosis, Outcome, and Long-Term Follow-Up of 78 Patients with Aromatic L-Amino Acid Decarboxylase Deficiency: Lesson from the International Database of Pediatric Neurotransmitter Disorders (Jake).. 99,.. 208.. Conference Absract.. Chang Y.. , Mues G.. , McPherson J.. D.. , Bedell J.. , Marsh J.. and Hyland K.. (1998) Mutations in the human aromatic L-amino acid decarboxylase gene.. Journal of Inherited Metabolic Disease.. , S4.. (2004) Levodopa-responsive aromatic L-amino acid decarboxylase deficiency.. Annals of Neurology.. 55,.. 435-438.. Choy Y.. , Chen B.. , Ong L.. (2006) Variable manifestation and therapeutic response of aromatic L-amino acid decarboxylase deficiency.. 29,..  ...   acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movements.. Developmental Medicine and Child Neurology.. 50,.. 876-878.. Korenke G.. , Christen H.. , Hunneman D.. and Hanefeld F.. (1997) Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises.. European Journal of Paediatic Neurology.. 1,.. 67-71.. Lamers K.. (1998) Abnormalities of biogenic amines affecting the metabolism of serotonin and catecholamines.. Multiple Sclerosis.. 4,.. 37-38.. Lee H.. , Tsai C.. , Chi C.. , Chang T.. and Lee H.. (2009a) Aromatic L-amino acid decarboxylase deficiency in Taiwan.. European Journal of Paediatric Neurology.. 135-140.. Lee N.. , Chien Y.. Huang A.. and Wu R.. (2008) Prevalence of the IVS6+4 A>T mutation in Taiwanese patients with aromatic amino acid decarboxylase deficiency.. , S136.. , Lai C.. , Siu T.. , Chan K.. Y.. , Yau E.. , Mak C.. , Yuen Y.. , Chan A.. W.. , Tam S.. and Lam C.. (2010) Modified clinical protocol for the investigations of dystonia: non-invasive biochemical diagnosis of aromatic L-amino acid decarboxylase deficiency in Chinese.. Clinica Chimica Acta.. 411,.. 908-909.. Lee W.. , Weng W.. Peng S.. and Tzen K.. (2009b) Neuroimaging findings in children with paediatric neurotransmitter diseases.. 32.. , 361-370.. Maller A.. , Milstien S.. , Biaggioni I.. and Butler I.. (1997) Aromatic L-amino acid decarboxylase deficiency: Clinical features, diagnosis, and treatment of a second family.. Journal of Child Neurology.. 12,.. 349-354.. Manegold C.. , Degen I.. , Ikonomidou H.. , Laass M.. , Pritsch M.. , Wilichowski E.. and Horster F.. (2009) Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up.. 371-380.. Menache C.. , Manzano S.. , Cruzado D.. , Mirabeau M.. and Haenggeli C.. (2002) Aromatic L-amino acid decarboxylase deficiency in two siblings.. 52,.. S159-S160.. Pearl P.. , Wallis D.. and Gibson K.. (2004) Pediatric neurotransmitter diseases.. Curr.. Neurosci.. Rep.. 147-152.. , Taylor J.. , Trzcinski S.. and Sokohl A.. (2007) The pediatric neurotransmitter disorders.. Child Neurol.. 22,.. 606-616.. Pons R.. , Ford B.. , Chiriboga C.. and De Vivo D.. (2001) Clinical spectrum and response to treatment in patients with aromatic L-amino acid decarboxylase deficiency.. 56,.. A459-A460.. , Hinton V.. (2004) Aromatic L-amino acid decarboxylase deficiency: Clinical features, treatment, and prognosis.. 62,.. 1058-1065.. Swoboda K.. , Levy H.. , Kuban K.. , Goldstein D.. (1997) Aromatic L-amino acid decarboxylase deficiency: Expansion of the clinical phenotype and therapeutic intervention in 2 infants.. 46.. , Holmes C.. and Levy H.. (1999) Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.. 53,.. 1205-1211.. , Saul J.. , McKenna C.. , Speller N.. (2003) Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes.. Ann.. 54 Suppl 6,.. S49-S55.. Tay S.. , Poh K.. , Pang Y.. , Ong H.. , Low P.. and Goh D.. (2007) Unusually mild phenotype of AADC deficiency in 2 siblings.. 91,.. 374-378.. , Poh L.. , Pang A.. (2007) Aromatic L-amino acid decarboxylase deficiency: Clinical, biochemical and genetic characterization of an unusually mild phenotype in two siblings.. 68,.. A48.. Verbeek M.. , Geurtz P.. (2007) Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes.. 90,.. 363-369.. Vutskits L.. , Menache C.. , Haenggeli C.. and Habre W.. (2006) Anesthesia management in a young child with aromatic l-amino acid decarboxylase deficiency.. Paediatric Anaesthesia.. 16,.. 82-84.. Wassenberg T.. , Lammens M.. , Verrijp K.. , Wilmer M.. and Verbeek M.. (2010) Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: The unsolved paradox.. 101,.. 349-356.. Wojtowicz P.. , Zrostlikova J.. , Kovalczuk T.. , Schurek J.. and Adam T.. (2010) Evaluation of comprehensive two-dimensional gas chromatography coupled to time-of-flight mass spectrometry for the diagnosis of inherited metabolic disorders using an automated data processing strategy.. Journal of Chromatography A.. 1217,.. 8054-8061..

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  • Archived pages: 157