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105 results

  1. PRSS1-Related Hereditary Pancreatitis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK84399
    ... posted live 5 August 2011 (ss) Initial submission References Published Guidelines / Consensus Statements Ellis I, Lerch MM, ... Gariepy CE, Freedman SD, Fishman DS, Bellin MD, Barth B, Abu-El-Haija M, Uc A. Early- ...
  2. Variegate Porphyria - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK121283
    ... See Quick Reference for an explanation of nomenclature. References Literature Cited Andant C, Puy H, Bogard C, ... Stein P, Cox TM, Badminton M, Gardiner T, Barth JH, Stewart MF, Rees DC. Audit of the ...
  3. Glutaric Acidemia Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546575
    ... live 16 October 2017 (jwa/al) Original submission References Literature Cited Badve MS, Bhuta S, Mcgill J. ... 115–23. [ PubMed : 8837070 ] Hoffmann GF, Trefz FK, Barth PG, Böhles HJ, Biggemann B, Bremer HJ, Christensen ...
  4. Short-Chain Acyl-CoA Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK63582
    ... al 2008 , Bennett 2010 , Schuck et al 2010 ]. References Literature Cited Amendt BA, Greene C, Sweetman L, ... Brain Dis. 2006; 21 :11–9. [ PubMed : 16773466 ] Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre ...
  5. Propionic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK92946
    ... posted live 28 October 2011 (nc) Original submission References Literature Cited Adhikari AN, Gallagher RC, Wang Y, ... 29592908 ] Grünert SC, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner ...
  6. Acute Intermittent Porphyria - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1193
    ... posted live 3 January 2005 (ss) Original submission References Literature Cited Aarsand AK, Villanger JH, Støle E, ... Gardiner T, Guppy S, Rees DC, Stein P, Barth J, Felicity Stewart M, Badminton M. An audit ...
  7. Cleidocranial Dysplasia Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1513
    ... posted live 28 June 2005 (rml) Original submission References Literature Cited Bae DH, Lee JH, Song JS, ... PMC free article : PMC9314484 ] [ PubMed : 35834113 ] Ioscovich A, Barth D, Samueloff A, Grisaru-Granovsky S, Halpern S. ...
  8. TANGO2 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK476443
    ... posted live 23 September 2017 (srl) Original submission References Literature Cited Asadi P, Milev MP, Saint-Dic ... Feillet F, Torre S, Boddaert N, Bruel H, Barth M, Damaj L, Abi-Wardé MT, Afenjar A, ...
  9. ARSACS - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1255
    ... posted live 2 July 2003 (yr) Original submission References Literature Cited Ady V, Toscano-Márquez B, Nath ... N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant- ...
  10. Sandhoff Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK579484
    ... public domain in the United States of America. References Literature Cited Beker-Acay M, Elmas M, Koken ... L, Goizet C, Ayrignac X, Ory-Magne F, Barth M, Lamari F, Mandia D, Caillaud C, Nadjar ...
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