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32351862 | A Mysterious Case of Recurrent Acute Hyperammonemic Encephalopathy. | 2020 Mar 31 |
2 |
| 2 |
30449781 | Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency. | 2019 Apr 1 |
1 |
| 3 |
30904234 | Malnutrition with hypoaminoacidemia in a 22-year-old pregnant patient masking a likely ornithine transcarbamylase deficiency. | 2019 Apr |
2 |
| 4 |
29123827 | Ornithine transcarbamylase deficiency that developed at the age of 19 years with acute brain edema. | 2016 Oct |
1 |
| 5 |
24370386 | Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry. | 2014 Mar 20 |
2 |
| 6 |
22727265 | Recurrent somnolence in a 17-month-old infant: late-onset ornithine transcarbamylase (OTC) deficiency due to the novel hemizygous mutation c.535C > T (p.Leu179Phe). | 2013 Jan |
2 |
| 7 |
20077096 | Quantitation of orotic acid in urine using isotope dilution-selected ion gas chromatography-mass spectrometry. | 2010 |
1 |
| 8 |
16601886 | An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient. | 2006 Feb |
1 |
| 9 |
15174800 | Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene. | 2004 May |
2 |
| 10 |
15240946 | A suspected case of ornithine transcarbamylase deficiency in a cat. | 2004 Jun |
1 |
| 11 |
11080238 | Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus. | 2000 Dec |
1 |
| 12 |
10388475 | Optimization of allopurinol challenge: sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency. | 1999 Jul |
2 |
| 13 |
1434508 | Allopurinol challenge test in children. | 1992 |
1 |
| 14 |
6510024 | Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. | 1984 |
1 |