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Results 1 - 10 of 207 for R -"3-hydroxytetradecanoic" acid
  1. Canavan disease 
    ... FJ, Chan A, Tyring SK, Goodman SI, Matalon R. Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problem. J Child Neurol. 2003 Nov;18(11):809-12. doi: 10.1177/08830738030180111601. Citation on PubMed ... J, Ezell EL, Matalon R. Canavan disease: a monogenic trait with complex genomic ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics
  2. Hartnup disease 
    ... CA, Kuba K, Danilczyk U, Skovby F, Kleta R, Penninger JM, Verrey F. Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with ...
    https://medlineplus.gov/genetics/condition/hartnup-disease - Genetics
  3. Aromatic l-amino acid decarboxylase deficiency 
    ... CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology. ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  4. Vici syndrome 
    ... Pilz DT, Jungbluth H, Dionisi-Vici C, Carsetti R. The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity. ...
    https://medlineplus.gov/genetics/condition/vici-syndrome - Genetics
  5. Sialic acid storage disease 
    ... PubMed Lemyre E, Russo P, Melancon SB, Gagne R, Potier M, Lambert M. Clinical spectrum of infantile free sialic acid storage disease. Am J Med Genet. 1999 Feb ...
    https://medlineplus.gov/.../condition/sialic-acid-storage-disease - Genetics
  6. Maple syrup urine disease 
    ... Oyarzabal A, Martinez-Pardo M, Merinero B, Navarrete R, Desviat LR, Ugarte M, Rodriguez-Pombo P. A novel regulatory defect in the branched-chain alpha-keto acid dehydrogenase complex due to a mutation in the ...
    https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease - Genetics
  7. Lysosomal acid lipase deficiency 
    ... Raiman J, Di Rocco M, Santra S, Sharma R, Sykut-Cegielska J, Whitley CB, Eckert S, Valayannopoulos V, Quinn AG. Clinical Features of Lysosomal Acid Lipase Deficiency. J Pediatr Gastroenterol Nutr. 2015 Dec; ...
    https://medlineplus.gov/.../lysosomal-acid-lipase-deficiency - Genetics
  8. Purine nucleoside phosphorylase deficiency 
    ... S, Al-Ghonaium A, Al-Dhekri H, Arnaout R, Hershfield MS, Al-Mousa H. A novel mutation in purine nucleoside phosphorylase in a child with normal uric acid levels. Clin Biochem. 2009 Nov;42(16-17): ...
    https://medlineplus.gov/...urine-nucleoside-phosphorylase-deficiency - Genetics
  9. Spondyloenchondrodysplasia with immune dysregulation 
    ... S, Kiss A, Rosa RF, Unger SL, Renella R, Bonafe L, Spranger J, Unger S, Zabel B, Superti-Furga A. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and ...
    https://medlineplus.gov/...hondrodysplasia-with-immune-dysregulation - Genetics
  10. Beta-ureidopropionase deficiency 
    ... GF, Voit T, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, Wevers RA, Rutsch F, van Gennip AH. Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency. Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1093-8. doi: 10. ...
    https://medlineplus.gov/.../beta-ureidopropionase-deficiency - Genetics
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