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149 results
  1. MELAS - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1233
    ... Review posted live September 2000 (sdm) Original submission References Literature Cited Abu-Amero KK, Al-Dhalaan H, ...
  2. Glycogen Storage Disease Type III - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK26372
    ... posted live 5 November 2009 (daw) Original submission References Literature Cited Austin SL, Proia AD, Spencer-Manzon ... Leslie ND, Saenz-Ayala S. GeneReviews(®). 1993 Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
  3. Chylomicron Retention Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK578949
    ... posted live 27 September 2021 (jrb) Original submission References Literature Cited Charcosset M, Sassolas A, Peretti N, ... Leslie ND, Saenz-Ayala S. GeneReviews(®). 1993 Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
  4. 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 ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  5. Phosphorylase Kinase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK55061
    ... posted live 7 September 2010 (db) Original submission References Literature Cited Alfadhel M, Benmeakel M, Hossain MA, ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  6. Epimerase Deficiency Galactosemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK51671
    ... posted live 31 August 2010 (jfk) Original submission References Literature Cited Alano A, Almashanu S, Chinsky JM, ... 34(1):2176699. Epub 2023 Feb 27. Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
  7. POLG-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK26471
    ... posted live 9 December 2007 (bhc) Original submission References Literature Cited Alves CAPF, Gonçalves FG, Grieb D, ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  8. Permanent Neonatal Diabetes Mellitus - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1447
    ... posted live 9 August 2007 (cas) Original submission References Literature Cited Allen HL, Flanagan SE, Shaw-Smith ... Anemia. Mehta PA, Ebens C. GeneReviews(®). 1993 Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
  9. FOLR1-Related Cerebral Folate Transport Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK599286
    ... posted live 7 June 2023 (idg) Original submission References Literature Cited Akiyama T, Kuki I, Kim K, ... H, Efthymiou S, Nagy S. GeneReviews(®). 1993 Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
  10. Aromatic L-Amino Acid Decarboxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK595821
    ... posted live 9 January 2023 (nb) Original submission References Literature Cited Antonini A, Poewe W. Fibrotic heart- ... Mannosidosis. Ficicioglu C, Stepien KM. GeneReviews(®). 1993 Review Carnitine-Acylcarnitine Translocase Deficiency. [GeneReviews(®). 1993] Review Carnitine-Acylcarnitine ...
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