These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency. Kendall BE; Kingsley DP; Leonard JV; Lingam S; Oberholzer VG J Neurol Neurosurg Psychiatry; 1983 Jan; 46(1):28-34. PubMed ID: 6842197 [TBL] [Abstract][Full Text] [Related]
10. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Hoffmann GF; Athanassopoulos S; Burlina AB; Duran M; de Klerk JB; Lehnert W; Leonard JV; Monavari AA; Müller E; Muntau AC; Naughten ER; Plecko-Starting B; Superti-Furga A; Zschocke J; Christensen E Neuropediatrics; 1996 Jun; 27(3):115-23. PubMed ID: 8837070 [TBL] [Abstract][Full Text] [Related]
11. Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy. Mak CM; Siu TS; Lam CW; Chan GC; Poon GW; Wong KY; Low LC; Tang NL; Li SK; Lau KY; Kwong NS; Tam S J Inherit Metab Dis; 2007 Nov; 30(6):981. PubMed ID: 17922216 [TBL] [Abstract][Full Text] [Related]
12. A female case of ornithine transcarbamylase deficiency with marked computed tomographic abnormalities of the brain. Takayanagi M; Ohtake A; Ogura N; Nakajima H; Hoshino M Brain Dev; 1984; 6(1):58-60. PubMed ID: 6731721 [TBL] [Abstract][Full Text] [Related]
13. Long-term treatment of girls with ornithine transcarbamylase deficiency. Maestri NE; Brusilow SW; Clissold DB; Bassett SS N Engl J Med; 1996 Sep; 335(12):855-9. PubMed ID: 8778603 [TBL] [Abstract][Full Text] [Related]
14. Inborn errors of urea synthesis. Batshaw ML Ann Neurol; 1994 Feb; 35(2):133-41. PubMed ID: 7906500 [TBL] [Abstract][Full Text] [Related]
15. Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. Scaglia F; Carter S; O'Brien WE; Lee B Mol Genet Metab; 2004 Apr; 81 Suppl 1():S79-85. PubMed ID: 15050979 [TBL] [Abstract][Full Text] [Related]
16. Natural history of symptomatic partial ornithine transcarbamylase deficiency. Rowe PC; Newman SL; Brusilow SW N Engl J Med; 1986 Feb; 314(9):541-7. PubMed ID: 3945292 [TBL] [Abstract][Full Text] [Related]
17. Ornithine transcarbamylase deficiency: enzyme studies on a further case and a method of diagnosis using plasma enzyme ratios. Gray RG; Black JA; Lyons VH; Pollitt RJ Pediatr Res; 1976 Nov; 10(11):918-23. PubMed ID: 980551 [TBL] [Abstract][Full Text] [Related]
18. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. Kölker S; Garcia-Cazorla A; Valayannopoulos V; Lund AM; Burlina AB; Sykut-Cegielska J; Wijburg FA; Teles EL; Zeman J; Dionisi-Vici C; Barić I; Karall D; Augoustides-Savvopoulou P; Aksglaede L; Arnoux JB; Avram P; Baumgartner MR; Blasco-Alonso J; Chabrol B; Chakrapani A; Chapman K; I Saladelafont EC; Couce ML; de Meirleir L; Dobbelaere D; Dvorakova V; Furlan F; Gleich F; Gradowska W; Grünewald S; Jalan A; Häberle J; Haege G; Lachmann R; Laemmle A; Langereis E; de Lonlay P; Martinelli D; Matsumoto S; Mühlhausen C; de Baulny HO; Ortez C; Peña-Quintana L; Ramadža DP; Rodrigues E; Scholl-Bürgi S; Sokal E; Staufner C; Summar ML; Thompson N; Vara R; Pinera IV; Walter JH; Williams M; Burgard P J Inherit Metab Dis; 2015 Nov; 38(6):1041-57. PubMed ID: 25875215 [TBL] [Abstract][Full Text] [Related]
19. Neurologic syndromes in hyperammonemic disorders. Breningstall GN Pediatr Neurol; 1986; 2(5):253-62. PubMed ID: 3334203 [TBL] [Abstract][Full Text] [Related]
20. [Hyperammonemia type II as an example of urea cycle disorder]. Hawrot-Kawecka AM; Kawecki GP; Duława J Wiad Lek; 2006; 59(7-8):512-5. PubMed ID: 17209350 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]