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131 related items for PubMed ID: 9877039

  • 1. Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate.
    Plecko B, Erwa W, Wermuth B.
    Eur J Pediatr; 1998 Dec; 157(12):996-8. PubMed ID: 9877039
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  • 2. N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate.
    Morris AA, Richmond SW, Oddie SJ, Pourfarzam M, Worthington V, Leonard JV.
    J Inherit Metab Dis; 1998 Dec; 21(8):867-8. PubMed ID: 9870213
    [No Abstract] [Full Text] [Related]

  • 3. N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication.
    Schubiger G, Bachmann C, Barben P, Colombo JP, Tönz O, Schüpbach D.
    Eur J Pediatr; 1991 Mar; 150(5):353-6. PubMed ID: 2044610
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  • 4. N-Acetylglutamate synthetase deficiency responding to carbamylglutamate.
    Hinnie J, Colombo JP, Wermuth B, Dryburgh FJ.
    J Inherit Metab Dis; 1997 Nov; 20(6):839-40. PubMed ID: 9427158
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  • 6. Late-onset form of partial N-acetylglutamate synthetase deficiency.
    Elpeleg ON, Colombo JP, Amir N, Bachmann C, Hurvitz H.
    Eur J Pediatr; 1990 Jun; 149(9):634-6. PubMed ID: 2373115
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  • 8. A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate.
    Guffon N, Vianey-Saban C, Bourgeois J, Rabier D, Colombo JP, Guibaud P.
    J Inherit Metab Dis; 1995 Jun; 18(1):61-5. PubMed ID: 7623444
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  • 15. Carglumic acid: new preparation. An advance in rare urea cycle disorders.
    Prescrire Int; 2004 Feb; 13(69):3-4. PubMed ID: 15055204
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  • 16. N-carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia.
    Jones S, Reed CA, Vijay S, Walter JH, Morris AA.
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S219-22. PubMed ID: 18338235
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  • 17. N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication.
    Bachmann C, Krähenbühl S, Colombo JP, Schubiger G, Jaggi KH, Tönz O.
    N Engl J Med; 1981 Feb 26; 304(9):543. PubMed ID: 7453791
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  • 18. Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiency.
    Tummolo A, Favia V, Bellantuono R, Bellino V, Ranieri A, Morrone A, De Palo T, Papadia F.
    Pediatr Emerg Care; 2013 May 26; 29(5):656-8. PubMed ID: 23640148
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  • 19. Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.
    Kenneson A, Singh RH.
    Orphanet J Rare Dis; 2020 Oct 09; 15(1):279. PubMed ID: 33036647
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  • 20. Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
    Kim JH, Kim YM, Lee BH, Cho JH, Kim GH, Choi JH, Yoo HW.
    J Hum Genet; 2015 Jul 09; 60(7):395-7. PubMed ID: 25787344
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