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Journal Abstract Search

171 related items for PubMed ID: 2208768

  • 21. Intracranial haemorrhage in siblings and ornithine transcarbamylase deficiency.
    Amir J, Alpert G, Statter M, Gutman A, Reisner SH.
    Acta Paediatr Scand; 1982 Jul; 71(4):671-3. PubMed ID: 7136688
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  • 22. Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy.
    Pridmore CL, Clarke JT, Blaser S.
    J Child Neurol; 1995 Sep; 10(5):369-74. PubMed ID: 7499756
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  • 24. Chronic benzoate therapy in a boy with partial ornithine transcarbamylase deficiency.
    Letarte J, Qureshi IA, Ouellet R, Godard M.
    J Pediatr; 1985 May; 106(5):794-7. PubMed ID: 3998920
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  • 25. Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium.
    Oizumi J, Ng WG, Koch R, Shaw KN, Sweetman L, Velazquez A, Donnell GN.
    Clin Genet; 1984 Jun; 25(6):538-42. PubMed ID: 6733950
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  • 28. Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.
    Matsuura T, Hoshide R, Kiwaki K, Komaki S, Koike E, Endo F, Oyanagi K, Suzuki Y, Kato I, Ishikawa K.
    Hum Mutat; 1994 Jun; 3(4):402-6. PubMed ID: 8081398
    [No Abstract] [Full Text] [Related]

  • 29. Partial ornithine transcarbamylase deficiency in females: diagnosis by an immunohistochemical method.
    Hayasaka K, Metoki K, Ishiguro S, Kato S, Chiba T, Hirooka M, Kikuchi M, Kurobane I, Narisawa K, Tada K.
    Eur J Pediatr; 1987 Jul; 146(4):370-2. PubMed ID: 3308467
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  • 31. Lethal ornithine transcarbamylase deficiency in a female neonate: a new case.
    Klosowski S, Largilliere C, Storme L, Rakza T, Rabier D, Lequien P.
    Acta Paediatr; 1998 Feb; 87(2):227-8. PubMed ID: 9512214
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  • 32. A fatal variant of human ornithine carbamoyltransferase is stimulated by Mg2+.
    Woodfin BM, Davis LE, Bernard LR, Kornfeld M.
    Biochem Med Metab Biol; 1986 Dec; 36(3):300-5. PubMed ID: 3801211
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  • 34. A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.
    Ségues B, Veber PS, Rabier D, Calvas P, Saudubray JM, Gilbert-Dussardier B, Bonnefont JP, Munnich A.
    Hum Mutat; 1996 Dec; 8(4):373-4. PubMed ID: 8956045
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  • 36. Site specific screening for point mutations in ornithine transcarbamylase deficiency.
    Feldmann D, Rozet JM, Pelet A, Hentzen D, Briand P, Hubert P, Largilliere C, Rabier D, Farriaux JP, Munnich A.
    J Med Genet; 1992 Jul; 29(7):471-5. PubMed ID: 1353535
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  • 37. Ornithine transcarbamylase deficiency in a male: strict correlation between metabolic control and plasma arginine concentration.
    Wendel U, Wieland J, Bremer HJ, Bachmann C.
    Eur J Pediatr; 1989 Jan; 148(4):349-52. PubMed ID: 2707281
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  • 39. Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.
    Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A.
    Hum Genet; 1991 Dec; 88(2):153-6. PubMed ID: 1721894
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