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149 results
  1. TRMU Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK591557
    ... posted live 29 April 2022 (rg) Original submission References Literature Cited Chen C, Guan MX. Genetic correction ... I, Sloan JL, Venditti CP. GeneReviews(®). 1993 Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
  2. Riboflavin Transporter Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299312
    ... posted live 2 September 2014 (am) Original submission References Literature Cited Abbas Q, Jafri SK, Ishaque S, ... Gene Locus Links Similar articles in PubMed Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
  3. Deoxyguanosine Kinase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK7040
    ... posted live 10 February 2009 (fs) Original submission References Literature Cited Al-Hussaini A, Faqeih E, El- ... Deficiency. Quinonez SC, Thoene JG. GeneReviews(®). 1993 Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
  4. Pyruvate Carboxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK6852
    ... posted live 7 March 2005 (ddv) Original submission References Literature Cited Ahmad A, Kahler SG, Kishnani PS, ... I, Sloan JL, Venditti CP. GeneReviews(®). 1993 Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
  5. Arginase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1159
    ... posted live 2 March 2004 (sc) Original submission References Literature Cited Asrani KH, Cheng L, Cheng CJ, ... Camacho J, Rioseco-Camacho N. GeneReviews(®). 1993 Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
  6. Citrin Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1181
    ... Tokuhara et al 2007 , Fu et al 2011 ]. References Literature Cited Ben-Shalom E, Kobayashi K, Shaag ... 2):181-4. Epub 2005 Sep 30. Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
  7. Dopamine Beta-Hydroxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1474
    ... posted live 27 June 2003 (dr) Original submission References Literature Cited Arnold AC, Garland EM, Celedonio JE, ... Syndrome. Spaull RVV, Kurian MA. GeneReviews(®). 1993 Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
  8. Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK542806
    ... of SCEH protein function [ Bedoyan et al 2017 ]. References Literature Cited Al Mutairi F, Shamseldin HE, Alfadhel ... Jerves Serrano T, Venditti CP. GeneReviews(®). 1993 Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
  9. SLC39A14 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK431123
    ... posted live 29 November 2016 (kt) Original submission References Literature Cited Alhasan KA, Alshuaibi W, Hamad MH, ... Deficiency. Furukawa Y, Kish S. GeneReviews(®). 1993 Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
  10. Molybdenum Cofactor Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK575630
    ... posted live 4 January 2021 (pa) Original submission References Literature Cited Huang SJ, Amendola LM, Sternen DL. ... Deficiency. Quinonez SC, Thoene JG. GeneReviews(®). 1993 Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
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