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149 results
  1. MERRF - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1520
    ... posted live 8 May 2003 (sdm) Original submission References Literature Cited Chinnery PF, Howell N, Lightowlers RN, ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  2. Epidermolysis Bullosa with Pyloric Atresia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1157
    ... posted live 10 May 2007 (egp) Original submission References Literature Cited Azarian M, Dreux S, Vuillard E, ...
  3. Nonketotic Hyperglycinemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1357
    ... posted live 7 March 2002 (da) Original submission References Literature Cited Aburahma S, Khassawneh M, Griebel M, ... Mercimek-Andrews S, Salomons GS. GeneReviews(®). 1993 Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
  4. Ethylmalonic Encephalopathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK453432
    ... posted live 23 August 2016 (vt) Original submission References Literature Cited Burlina AB, Dionisi-Vici C, Bennett ... H, Efthymiou S, Nagy S. GeneReviews(®). 1993 Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
  5. Evidence Tables: Quality of Life and Symptom Measure - End-stage Renal Disease in the Medicare Population: Frequency ... 
    https://www.ncbi.nlm.nih.gov/books/NBK576020
    ... 72K) Evidence Table F10. Placebo effect (PDF, 37K) References 1. Chertow GM, Levin NW, Beck GJ, et ... Adler S, Sietsema KE, et al. Intravenous L-carnitine increases plasma carnitine, reduces fatigue, and may preserve ...
  6. Cystinosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1400
    ... public domain in the United States of America. References Published Guidelines / Consensus Statements Emma F, Nesterova G, ... WA. Infantile nephropathic cystinosis standards of care – a reference for people with infantile nephropathic cystinosis, their families, ...
  7. 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, ... Differential Diagnosis Management Genetic Counseling Resources Molecular Genetics References Chapter Notes Bulk Download Bulk download GeneReviews data ...
  8. Dictionary of Cancer Terms - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65951
    ... acetate acetic acid acetone acetyl group acetyl-L-carnitine acetyl-L-carnitine hydrochloride acetylation acetylcholine acetylcysteine ACF achlorhydria acid acid- ...
  9. Hereditary Fructose Intolerance - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK333439
    ... posted live 15 July 2015 (jwa) Original submission References Literature Cited Adamowicz M, Płoski R, Rokicki D, ... I, Sloan JL, Venditti CP. GeneReviews(®). 1993 Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
  10. SERAC1 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK195853
    ... posted live 17 January 2014 (adb) Original submission References Literature Cited Giron C, Roze E, Degos B, ...
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