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Results 1 - 10 of 903 for l -arginine
  1. Aromatic l-amino acid decarboxylase deficiency 
    Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way nerve cells (neurons) transmit information to other cells.Signs ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  2. Essential pentosuria 
    ... characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a ... instructions for making a protein called dicarbonyl and L-xylulose reductase (DCXR), which plays multiple roles in ...
    https://medlineplus.gov/genetics/condition/essential-pentosuria - Genetics
  3. LMNA-related congenital muscular dystrophy 
    LMNA-related congenital muscular dystrophy (L-CMD) is a condition that primarily affects muscles used for movement (skeletal muscles). It is part of a group of genetic ...
    https://medlineplus.gov/...mna-related-congenital-muscular-dystrophy - Genetics
  4. Sepiapterin reductase deficiency 
    ... PubMed Abeling NG, Duran M, Bakker HD, Stroomer L, Thony B, Blau N, Booij J, Poll-The ... Epub 2006 May 2. Citation on PubMed Arrabal L, Teresa L, Sanchez-Alcudia R, Castro M, Medrano ...
    https://medlineplus.gov/.../sepiapterin-reductase-deficiency - Genetics
  5. 3-hydroxyacyl-CoA dehydrogenase deficiency 
    ... CoA dehydrogenase HAD deficiency HADH deficiency HADHSC deficiency L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency ... MJ, Russell LK, Tokunaga C, Narayan SB, Tan L, Seegmiller A, Boriack RL, Strauss AW. Reye-like ...
    https://medlineplus.gov/...-hydroxyacyl-coa-dehydrogenase-deficiency - Genetics
  6. Fucosidosis 
    ... provides instructions for making an enzyme called alpha-L-fucosidase. This enzyme plays a role in the ... to certain fats (glycolipids) and proteins (glycoproteins). Alpha-L-fucosidase is responsible for cutting off (cleaving) a ...
    https://medlineplus.gov/genetics/condition/fucosidosis - Genetics
  7. 2-hydroxyglutaric aciduria 
    ... called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).The main features of D-2- ...
    https://medlineplus.gov/.../condition/2-hydroxyglutaric-aciduria - Genetics
  8. Ulcerative colitis 
    ... M, Latiano A, Lagace C, Scott R, Amininejad L, Bumpstead S, Baidoo L, Baldassano RN, Barclay M, Bayless TM, Brand S, ... RS, Floyd JA, Florin T, Franchimont D, Franke L, Georges M, Glas J, Glazer NL, Guthery SL, ...
    https://medlineplus.gov/genetics/condition/ulcerative-colitis - Genetics
  9. 16p11.2 duplication 
    ... Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Mace A, ... C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW. Phenotypic spectrum associated with ...
    https://medlineplus.gov/genetics/condition/16p112-duplication - Genetics
  10. X-linked acrogigantism 
    ... PubMed Beckers A, Lodish MB, Trivellin G, Rostomyan L, Lee M, Faucz FR, Yuan B, Choong CS, ... Central Daly AF, Lysy PA, Desfilles C, Rostomyan L, Mohamed A, Caberg JH, Raverot V, Castermans E, ...
    https://medlineplus.gov/genetics/condition/x-linked-acrogigantism - Genetics
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