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DeCS
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Descriptor English:
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Carbamoyl-Phosphate Synthase I Deficiency Disease
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Descriptor Spanish:
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enfermedad por deficiencia de carbamil-fosfato sintasa I
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Descriptor Portuguese:
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Doença da Deficiência da Carbamoil-Fosfato Sintase I
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Synonyms English:
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CPS 1 Deficiencies
CPS 1 Deficiency
CPS I Deficiencies
CPS I Deficiency
Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease
Carbamoyl Phosphate Synthase 1 Deficiency
Carbamoyl Phosphate Synthase 1 Deficiency Disease
Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
Carbamoyl Phosphate Synthetase I Deficiency
Carbamoyl Phosphate Synthetase I Deficiency Disease
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Carbamoyl-Phosphate Synthase 1 Deficiency Disease
Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
Carbamoyl-Phosphate Synthetase I Deficiency Disease
Carbamoylphosphate Synthetase 1 Deficiency Disease
Carbamoylphosphate Synthetase 1 Deficiency Disease -
Carbamoylphosphate Synthetase I Deficiency Disease
Carbamyl Phosphate Synthetase (CPS) Deficiency
Carbamyl Phosphate Synthetase 1 Deficiency Disease
Carbamyl Phosphate Synthetase Deficiency Disease
Carbamyl Phosphate Synthetase I Deficiency Disease
Carbamyl-Phosphate Synthetase 1 Deficiency Disease
Carbamyl-Phosphate Synthetase I Deficiency Disease
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
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Tree Number:
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C10.228.140.163.100.937.249
C16.320.565.100.940.249
C16.320.565.189.937.249
C18.452.132.100.937.249
C18.452.648.100.940.249
C18.452.648.189.937.249
C18.452.660.097
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Definition English:
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A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1) |
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Indexing Annotation English:
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consider also CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA)/defic
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See Related English:
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Carbamoyl-Phosphate Synthase (Ammonia)
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History Note English:
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2000
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Allowable Qualifiers English:
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Record Number:
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34229
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Unique Identifier:
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D020165
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Occurrence in VHL:
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Similar:
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DeCS
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