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         Bourneville-pringle Syndrome:     more detail

81. Kkjheut\kkja1g1

http://www.med.uni-jena.de/kjm/kkjheut/kkja1g1.htm
Arbeitsbereich
Ihre Ansprechpartner sind:
Dr.med.J. Seidel Oberazt
jsei@med.uni-jena.de
Schwestern: Schw. Chr. Schubert E. Wolf Sozialdienst: Schw. I. Dube Sprechstunden:
Montag 8.30 - 14.00 Uhr Dienstag 8.30 - 14.00 Uhr Donnerstag 8.30 - 14.00 Uhr Freitag 8.30 - 14.00 Uhr Weitere Sprechstundentermine nach Absprache Telephonische Terminabsprache unter 03641 - 938427 Postanschrift:
Kochstrasse 2
D-07740 Jena Leistungsspektrum:
  • Spezielle Diagnostik:
      Diagnostik bei Verdacht auf angeborene Stoffwechselerkrankungen, Fehlbildungen, genetisch bedingte Syndrome, Skelett- und Bindegewebserkrankungen, Pakomatosen und Chromosomenaberrationen in Zusammenarbeit mit nationalen und internationalen Stoffwechselzentren
    Therapieangebote:
      Betreuung von Patienten mit angeborenen Stoffwechseldefekten:
      Phenylketonurie (PKU)
      Glykogenosen
      Morbus Niemann-Pick
      Juvenile Osteoporose
      Osteogenesis imperfecta Pseudohypoparathyreoidismus Ehlers-Danlos-Syndrom Marfan-Syndrom
    • Betreuung von Patienten mit Phakomatosen:
    • Neurofibromatosis von Recklinghausen
    • Betreuung von Patienten mit genetisch bedingten Syndromen:
    • Prader-Willi-Syndrom Williams-Beuren-Syndrom Fra-X-Syndrom CATCH-22-Syndrom
    • Betreuung von Patienten mit Mehrfachfehlbildungen:
    • VACTERL-Assoziation Poland-Syndrom Klippel-Feil-Syndrom
    • Betreuung von Patienten mit Chromosomenanomalien
    • Morbus Langdon-Down (Trisomie 21) Morbus Turner Morbus Klinefelter
  • Selbsthilfegruppen
      DIG PKU e.V.

82. “ï•aˆã—Ô•¬•Ê–¼ƒŠƒXƒg
The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set.
http://www.kenkou.metro.tokyo.jp/shippei/iryohi/betumeilist.htm
@“ï•aˆã—”ï“™•¬‚́A‘E“s‚ªŽ¾•a‚ðŽw’肵‚Ä‚¢‚Ü‚·B
@•¬‘Ώێ¾•a‚́A‚³‚Ü‚´‚܂ȌĂѕû‚ª‚ ‚é‚Ù‚©AŽw’莾•a‚ªŽ¾Š³ŒQ‚Å‚»‚Ì’†‚É‘¼‚Ì–¼‘O‚ÌŽ¾•a‚ªŠÜ‚Ü‚ê‚é‚à‚Ì‚à‚ ‚è‚Ü‚·B
@‰º‹L‚̃ŠƒXƒg‚É•a–¼‚ª‚ ‚ê‚΁A •¬‘Ώێ¾•aˆê—— ‚©‚ç”F’èŠî€“™‚ðŠm”F‚µ‚Ä‚­‚¾‚³‚¢B
50‰¹ŒŸõƒŠƒXƒg@@
‰p•¶ŒŸõƒŠƒXƒg
ABC DEF GHI ... VWXYZ
•Ê–¼–”‚ÍŽ¾Š³ŒQ‚ÉŠÜ‚Ü‚ê‚鎾•a •¬‘Ώێ¾•a–¼ Œn“•ª—Þ ƒAƒCEƒZƒ‹•aiI-cellj _ŒoŒn _ŒoŒn ƒXƒ‚ƒ“ _ŒoŒn äPŒ´Œn ƒAƒXƒpƒ‹ƒ`ƒ‹ƒOƒ‹ƒRƒTƒ~ƒ“”AÇ _ŒoŒn ƒAƒ^ƒLƒVƒAEƒeƒŒƒAƒ“ƒWƒGƒNƒ^ƒVƒA(ataxia teleangiectasia) Œ´”­«–Ɖu•s‘SÇŒóŒQ ƒAƒfƒmƒVƒ“ƒfƒAƒ~ƒi[ƒ[Œ‡‘¹Ç(adenosine deaminase) Œ´”­«–Ɖu•s‘SÇŒóŒQ ƒAƒhƒŒƒmƒƒCƒRƒWƒXƒgƒƒtƒB[ •›t”’Ž¿ƒWƒXƒgƒƒtƒB[ _ŒoŒn ƒAƒ~ƒƒCƒh[ƒVƒX ƒAƒ~ƒƒCƒh[ƒVƒX _ŒoŒn ƒAƒ~ƒƒCƒhÇ ƒAƒ~ƒƒCƒh[ƒVƒX _ŒoŒn _ŒoŒn ƒAƒŒƒ‹ƒM[«“÷‰èŽî«ŒŒŠÇ‰Š ƒAƒŒƒ‹ƒM[«“÷‰èŽî«ŒŒŠÇ‰Š äPŒ´Œn ˆÀ’èˆöŽqŒ‡–RÇi‘æ‡ZˆöŽqŒ‡–RÇj æ“V«ŒŒ‰t‹ŒÅˆöŽqŒ‡–RÇ“™ _ŒoŒn ˆâ“`«‰^“®Š´Šoƒjƒ…[ƒƒpƒ`[ _ŒoŒn _ŒoŒn ˆâ“`«Š´Šo«Ž©—¥_Œo«ƒjƒ…[ƒƒpƒ`[ _ŒoŒn ˆâ“`«QT‰„’·ÇŒóŒQ ˆâ“`«QT‰„’·ÇŒóŒQ ˆâ“`«áz«‘Ζƒáƒ _ŒoŒn ˆâ“`«ƒjƒ…[ƒƒpƒ`[ _ŒoŒn ƒEƒCƒXƒRƒbƒgEƒAƒ‹ƒhƒŠƒbƒ`ÇŒóŒQiWiskott-Aldrich) Œ´”­«–Ɖu•s‘SÇŒóŒQ ƒEƒBƒŠƒX“®–¬—֕ǏÇ(Willis) ƒ‚ƒ„ƒ‚ƒ„•aiƒEƒBƒŠƒX“®–¬—֕Ǐǁj _ŒoŒn ƒEƒBƒŠƒX“®–¬—֕ǏÇ(Willis) ƒ‚ƒ„ƒ‚ƒ„•aiƒEƒBƒŠƒX“®–¬—֕Ǐǁj _ŒoŒn ƒEƒCƒ‹ƒuƒ‰ƒ“ƒg•a(Willebrand) æ“V«ŒŒ‰t‹ŒÅˆöŽqŒ‡–RÇ“™ ƒEƒFƒQƒi[“÷‰èŽîÇ(Wegener) ƒEƒFƒQƒi[“÷‰èŽîÇ äPŒ´Œn Ò‘«‹ØˆÞkÇ _ŒoŒn _ŒoŒn ‚¤‚ÁŒŒŒ^S‹ØÇ‚Ì‚¤‚¿“Á”­«‚Ì‚à‚Ì “Á”­«Šg’£Œ^S‹ØÇ ‰^“®Š´Šoƒjƒ…[ƒƒpƒ`[‚Ì‚¤‚¿ˆâ“`«‚Ì‚à‚Ì _ŒoŒn _ŒoŒn ADA(adenosine deaminasejŒ‡‘¹Ç Œ´”­«–Ɖu•s‘SÇŒóŒQ HIVŠ´õÇ‚Ì‚¤‚¿ŒŒ‰t‹ŒÅˆöŽq»Ü“Š—^‚É‹Nˆö‚·‚é‚à‚Ì

83. Hifu
The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set.
http://kc.med.okayama-u.ac.jp/~guide/work/hifu/a/hifu-kokusi-a.html
‰ð“šì¬ŽÒF08001@Â–ؐM—T
‚³‚Ä–â‘è‚Å‚·‚ª‰½‚©”畆‰È‚ÌŽQl‘‚ð•ÐŽè‚É’²‚ׂȂª‚ç‚â‚Á‚Ä‚à‚炦‚ê‚Η͂ª‚‚­‚Å‚µ‚傤B‘ŽŽ‚Å‚·‚©‚ç“‚¢‚Ì‚Í“–‚½‚è‘OA‚Å‚«‚È‚­‚Ä“–‚½‚è‘O‚Å‚·B•šŒ©‚ªì‚Á‚½ƒKƒCƒ_ƒ“ƒX‰ß‹Ž–₪‚ ‚é‚©‚ç‚»‚Á‚¿‚ð‚â‚Á‚Ä‚©‚ç’§í‚µ‚Ä‚­‚¾‚³‚¢‚Ü‚µB
“š‚¦‚Rj
2“ú‘OAŽR‚ÖƒsƒNƒjƒbƒNAŽè‚É‘~áy‚𔺂¤”ç]‚Æ‚¢‚¤ƒL[ƒ[ƒh‚ª‚ ‚è‚Ü‚·BŽÊ^‚Å‚ÍŽè”w‚̐eŽw‘¤‚É”ç]‚ªŒ©‚ç‚ê‚Ü‚·B‚Æ‚¢‚¤‚±‚ƂŁA‚«‚Á‚ÆŽR‚Å‚¢‚¯‚È‚¢A•¨‚Ì—t‚É‚É‚Å‚à‚±‚·‚Á‚Ä‚µ‚Ü‚Á‚½‚Ì‚Å‚µ‚傤A‚©‚Ô‚ê‚Ä‚µ‚Ü‚Á‚Ä‚¢‚Ü‚·B2“ú‘O‚Æ‚¢‚¤‚Æ‚±‚ë‚É’x‰„Œ^‚̃AƒŒƒ‹ƒM[«‹@˜‚ª“õ‚¢‚Ü‚·B‚µ‚½‚ª‚Á‚Ä•a—ð‚ƗՏ°ŽÊ^‚©‚çA•¨‚É‚æ‚é ƒAƒŒƒ‹ƒM[«ÚG«”畆‰Š ‚ð‹­‚­‹^‚¦‚Ü‚·B
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‚QjX@^‹ÛŒŸ¸FKOH–@‚Ì‚±‚Æ‚Å”’ᝂ̐f’f‚É—˜—p‚³‚ê‚Ü‚·B
‚SjX@”ç“àƒeƒXƒgF‘¦ŽžŒ^ƒAƒŒƒ‹ƒM[‚ÌŒŸ¸–@‚ŃAƒiƒtƒBƒ‰ƒLƒV[‚È‚Ç‚ÌŒŸ¸–@‚Å‚·B
‚TjX@AuspitzŒ»ÛFŠ£á‚ÌŒú‚¢—Ø‹û‚𔍗£‚·‚é‚Æ“_óoŒŒ‚ªŒ©‚ç‚ê‚錻Û‚Å‚·B
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“š‚¦‚Sj
ƒuƒhƒE‹…‹Û«”M—l”畆ÇŒóŒQstaphylococcal scaled skin syndromeiSSSSj ‚ƌĂ΂ê‚Ü‚·B0‚©‚ç3Î‚ɍD”­‚µAŠç–ʂł͊ᎉ‚Ì•t’…A”^«•@`‚Ì‚Ù‚©AŒû‚ÌŽüˆÍ‚Éáo”ç‚Æ•úŽËó‚É‹T—ô‚ªŒ©‚ç‚ê‚Ü‚·B‘ÌŠ²‚ɂ͉Ώ—l‚̔畆‚Ì”—£‚ƍg”Á‚ªŒ©‚ç‚ê‚Ü‚·B˜e‚̉º‚É‚àg”ÁA…áv‚ª‚Å‚«‚é‚Ì‚Å•ø‚«ã‚°‚é‚Æ‹ƒ‚­‚Æ‚¢‚¤–âf‚É‚æ‚Á‚Ä‚àf’f‚Å‚«‚Ü‚·B
‚RjX@R^‹ÛÜF”’ᝂâ”畆ƒJƒ“ƒWƒ_Ç‚ÅŽg—p‚³‚ê‚Ü‚·
‚Sj›@R¶•¨Ž¿FƒuƒhƒE‹…‹Û‚É‚æ‚銴õÇ‚Ȃ̂ŃZƒtƒFƒ€ŒnR¶Ü‚ªŽg‚í‚ê‚Ü‚·
‚TjX@RƒEƒCƒ‹ƒXÜF’Pƒƒwƒ‹ƒyƒXŠ´õ‚â‘яóáv]‚È‚Ç‚ÅŽg‚í‚ê‚Ü‚·B
“š‚¦‚Pj‚Qj
‚Ä‚ñ‚©‚ñAŠç–Ê‚Ì‚É‚«‚Ñ—l‚Ì”ç]A¶Œã‚Ü‚à‚È‚­‚©‚瑶Ý‚·‚é×’·‚¢”’”Á‚©‚ç

84. _Œo”畆ÇŒóŒQ
The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set.
http://kc.med.okayama-u.ac.jp/~sotu/work/hifu/h11/exp/36/phakomatosis.html
•ê”ÁÇ (Phakomatosis)‚ɂ‚¢‚Ä
•ê”ÁÇ(phakomatosis)‚́A‘½”‚Ì‘gD‚̉ߌëŽî‚ð“Á’¥‚Æ‚µA•ê”Á‚Ɛ_ŒoÇŒó‚ðŽ‚ÂŽ¾Š³ŒQ‚Å‚ ‚éB
Œ‹ß«d‰»Ç tuberous sclerosis (Bourneville-Pringle disease)
‘½Œn“‚̉ߌëŽîŒ`¬‚ð“Á’¥‚Æ‚·‚é•ê”ÁÇ‚ŁA (WestÇŒóŒQ)A ¸_’x‘Ø A2-5Î ‚ɏoŒ»‚·‚é ‚ð¶‚¶‚éB”]•a•Ï‚͔玿Œ‹ß‚â”]Ž¿ãˆß‰ºŒ‹ß‚ŁA‹×–E‚âŠeŽí‚̃OƒŠƒA×–E‚©‚ç‚È‚éˆÙŒ`¬Œ^‚Ì•a•Ï‚ŁA–Ô–Œ•a•Ï‚́A”X–E«Œ‹ß‚Å‚ ‚邪Ž‹—͏ŠQ‚Í‚È‚¢A‘¼‚̔畆•a•Ï‚͐¶‰ºŽž‚©‚猩‚ç‚ê‚é íõF‘Ì—D«ˆâ“` ‚¾‚ªA–ñ80“‚Í“Ë‘R•ÏˆÙB
_ŒoüˆÛŽîÇ1Œ^ neurofibromatosis-1 NF-1(von Recklinghausen's disease)
1Œ^i––½Œ^j‚Í2Œ^‚æ‚è‚Í‚é‚©‚É•p“x‚ª‘½‚­A”畆‚̐F‘f’¾’…”Á‚Ɣ牺Žîᇂð—Տ°“I“Á’¥‚Æ‚·‚éBF‘f’¾’…”Á‚͐¶‰ºŽž‚©‚瑶Ý‚µA‘Ì‚Ì‚¢‚½‚é‚Æ‚±‚ë‚É‚Å‚«A‘å‚«‚³‚âF‡‚¢‚Í—lX‚Å‚ ‚éBŠŒF‚Ì‚à‚Ì‚Í ƒJƒtƒFƒIƒŒ”Á ‚Æ‚æ‚΂êA15mmˆÈã‚Ì‚à‚Ì‚ª6ŒÂ‚È‚¢‚µ‚»‚êˆÈã”F‚ß‚ç‚ê‚éB_ŒoüˆÛŽî‚Æ‚æ‚΂ê‚é_Œoâ‚ÌŽîᇂªA”牺‚¨‚æ‚є牺‘gD‚Ì––½_Œo‚Ì‘–s‚ɉˆ‚Á‚āA_Œoª‚©‚牓ˆÊ•”‚ÉŽŠ‚é‚ ‚ç‚ä‚é•”ˆÊ‚É‘½”­«‚ɐ¶‚¶‚éB_ŒoüˆÛŽî‚Í”ñí‚É‘å‚«‚­‚Ȃ邱‚Æ‚ª‚ ‚èA’˜‚µ‚­—eŽp‚𑹂ȂÁ‚½‚èAœ‚ðZH‚µ‚½‚èA‚¢‚ë‚¢‚ë‚È––½_Œo‘gD‚ðˆ³”—‚µ‚½‚è‚·‚éB¬‚³‚ȉߌëŽîiLischŒ‹ßj‚ª‚Ù‚Æ‚ñ‚Ç‚·‚ׂĂ̊³ŽÒ‚Ì ‚É‚Ý‚ç‚ê‚éBíõF‘Ì—D«ˆâ“`‚¾‚ªA–ñ50“‚Í“Ë‘R•ÏˆÙ‚Å‚ ‚éB _ŒoüˆÛŽîÇ2Œ^ neurofibromatosis-2 NF-2
2Œ^i’†•Œ^j‚Í1Œ^‚É”ä‚ׂقƂñ‚ǔ畆Çó‚ª‚È‚­A‚¨‚à‚É—¼‘¤«i‚Æ‚«‚ɕБ¤«j‚Ì’®_ŒoâŽî‚𐶂¶A’®—͏áŠQ‚ð’æ‚·‚éB‚µ‚΂µ‚ΐ‘–ŒŽî‚â_ŒoäPŽî‚È‚Ç‚Ì“ªŠW“à‚Ü‚½‚Í–TÒ’ŒŽîᇂ𔺂¤B‚â‚Í‚èíõF‘Ì—D«ˆâ“`‚Å‚ ‚éB
von Hippel-LindauÇŒóŒQ von Hippel-Lindau syndrome
–Ô–ŒŒŒŠÇŽî‚©‚ç‚È‚é•ê”ÁÇ‚̈êŒ^‚ŁA‘½”­«A—¼‘¤«‚Ì‚±‚Æ‚à‚ ‚éB¬”]‚¨‚æ‚Ñ‘æ‚S”]Žº•ÇA–Ô–Œ‚Æ‚«‚¨‚èÒ‘‚ÌŒŒŠÇŽî‚ ‚é‚¢‚ÍŒŒŠÇ‰è×–EŽî‚ð‡•¹‚µA‚Æ‚«‚ɁAt‘ŸA•›tA‚»‚Ì‘¼‚̊튯‚Ì”X–E‚¨‚æ‚щߌëŽî‚ð‡•¹‚·‚éBŒŒŠÇ‰èŽî‚âtŠà‚É‚æ‚鎀–S‚ª‘½‚¢BíõF‘Ì—D«ˆâ“`B

85. De Nationale Gezondheidslijn - De Medische Startpagina
I. ichthyosis icterus iga nefropathie ijzergebrekanemie immotile cilia syndromeimmuunstoornissen impetigo impotentie incontinentie indigestie infertiliteit
http://www.gezondheidslijn.nl/info.asp?ID=977

86. Information Selection Page

http://www.moddrc.com/Information-Disabilities/InfoSelectionIndex.htm
Specific Disabilities Click Here for a Listing of Specific Disabilities Aarskrog Syndrome Achondroplasia Acoustic Neuroma Adrenoleukodystrophy Aicardi Syndrome AIDS/HIV Albinism/Hypopigmentation Allergies Alzheimer's Disease Amniotic Band Syndrome Amputation Amyotropic Lateral Sclerosis Angelman Syndrome Apert's Syndrome Aphasia Apraxia Arnold-Chiari Syndrome Arthritis Arthrogryposis Asperger's Syndrome Asthma Ataxia Attention Deficit/Hyperactivity Disorder Autism Baller-Gerold Syndrome Batten's Disease Beckwith-Wiedemann Syndrome Bell's Palsy Bloom's Syndrome Bourneville-Pringle Syndrome (Also see: Tuberous Sclerosis) Brain Trauma Brain Tumor Cancer Carpal Tunnel Syndrome Carpenter Syndrome Cerebral Palsy Charcot-Marie Tooth Disease CHARGE Syndrome Chromosomal Abnormalities Chronic Illness Cleft Palate Cockayne Syndrome Cohen's Syndrome Conduct Disorder Congenital Myotonic Dystrophy Congenital Syphilis (Neurosyphilis) Cornelia de Lange Cortical Visual Impairment Craniosynostosis Cri du Chat Syndrome Crohn's Disease Crouzon Syndrome Cushing's Syndrome Cystic Fibrosis Cystinosis Cytomegalovirus (CMV) Dandy Walker Syndrome Deaf-Blind Degenerative Disc Disease Degenerative Joint Disease (Osteoarthritis) Dermatomyositis Diabetes DiGeorge Syndrome Down Syndrome Dubowitz Syndrome Dysarthria Dysautonomia Dysgraphia Dyslexia Dyspraxia Dystonia Edwards' Syndrome (Also see Trisomy 18) Ehler's-Danlos Syndrome Elective Mutism Encopresis Epilepsy Evans Syndrome Facial Disfigurement Fanconi Anemia Fetal Alcohol Syndrome Fibromyalgia Fibular Himimelia Fragile X Syndrome Freeman-Sheldon Syndrome

87. Äîïîëíèòåëüíûé ïåðå÷åíü ñèíäðîìîâ
The summary for this Russian page contains characters that cannot be correctly displayed in this language/character set.
http://www.kharkov.ukrtel.net/innovation/sindroms.htm
Àâöûíà — Chiari, Chiari.
Àëåêñååâà — Schramm.
Àñòðîâà (I).
Àñòðîâà (II).
Áåõòåðåâà (I).
Áåõòåðåâà (II).
Áåõòåðåâà (III).
Áåõòåðåâà (IV).
Áåõòåðåâà (V).
Áåõòåðåâà (VI).
Áåõòåðåâà (VII). Áåõòåðåâà (VIII), parasymbolia. Áåõòåðåâà (IX). Áåõòåðåâà (X), pseudomelia paraesthetica. Áåõòåðåâà (XI). Áåõòåðåâà (XII), acroerythrosis, ñèíäðîì Pagnicz. Áåõòåðåâà (XIII). Áåõòåðåâà (XIV), àóðîïàëüïåáðàëüíûé ðåôëåêñ. Áåõòåðåâà — Mendel. Áîòêèíà (I). Áîòêèíà (II). Âàñòåíà, Henkel — Âàñòåíà. Âîëêîâè÷à (I). Âîëêîâè÷à (II). Âîëêîâè÷à (III). Âîëêîâè÷à — Kocher. Âîñêðåñåíñêîãî (I). Âîñêðåñåíñêîãî (II). åíòåðà (I). åíòåðà (II). îâîðîâà— Godelier, Godelier—Remlinger. óáàðåâà, Gauss. óðåâè÷à — Mann. Êåðíèãà (I). Êåðíèãà (II). Êåðíèãà — Lasegue. Êîí÷àëîâñêîãî — Rumpel — Leede, Hecht. Ëóíèíà, Libman. Ìèðîíåíêî, Heinrichsdorf Íåì¸íîâà — Escudero, Escudero — Íåì¸íîâà.

88. Ha2.seikyou.ne.jp/home/adachi/study/s15/S15.TXT
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http://ha2.seikyou.ne.jp/home/adachi/study/s15/S15.TXT

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