Total: 10 |
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PMID (PMCID) | ||
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28444906 |
MIXED_SAMPLE | Infant, Newborn |
Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing. | ||
Zhang G, Chen Y, Ju H, Bei F, Li J, Wang J, Sun J, Bu J. J Clin Lab Anal. 2018;32(2):. |
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Carbamoyl Phosphate Synthetase 1 deficiency (CPS1D) is a rare autosomal recessive inborn metabolic disease characterized mainly by hyperammonemia. | ||
29314318 |
MIXED_SAMPLE | |
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy. | ||
Chen X, Yuan L, Sun M, Liu Q, Wu Y. J Clin Lab Anal. 2018;32(5):e22375. |
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Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive disorder of the urea cycle, mostly characterized by hyperammonemia and the concomitant leukodystrophy. | ||
29314318 |
MIXED_SAMPLE | |
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy. | ||
Chen X, Yuan L, Sun M, Liu Q, Wu Y. J Clin Lab Anal. 2018;32(5):e22375. |
||
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy. | ||
25639153 |
MALE | Middle Aged |
Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation. | ||
Laemmle A, Hahn D, Hu L, Rufenacht V, Gautschi M, Leibundgut K, Nuoffer JM, Haberle J. Mol Genet Metab. 2015;114(3):438-44. |
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This study adds to the understanding of chemotherapy-induced hyperammonemia as drug-induced CPS1 deficiency is suggested. | ||
25639153 |
MALE | Middle Aged |
Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation. | ||
Laemmle A, Hahn D, Hu L, Rufenacht V, Gautschi M, Leibundgut K, Nuoffer JM, Haberle J. Mol Genet Metab. 2015;114(3):438-44. |
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We therefore hypothesized that the acute onset of hyperammonemia was due to an acquired, chemotherapy-induced (posttranscriptional) CPS1 deficiency. | ||
20004862 (3758690) |
MIXED_SAMPLE | Young Adult |
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. | ||
Oldham MS, VanMeter JW, Shattuck KF, Cederbaum SD, Gropman AL. Pediatr Neurol. 2010;42(1):49-52. |
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Individuals with a proximal urea cycle disorder, such as carbamoyl phosphate synthetase deficiency 1 or ornithine transcarbamylase deficiency, may present with encephalopathy resulting from hyperammonemia. | ||
20117757 |
MALE | |
Extrapontine myelinolysis resulting in transient cortical blindness. | ||
Langer JE, Wilson WG, Raghavan P, Rust RS, Goodkin HP. Pediatr Neurol. 2010;42(2):154-6. |
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Described here is a novel case of transient cortical blindness in association with imaging features of extrapontine myelinolysis, which occurred in a child with carbamoyl phosphate synthetase deficiency after rapid correction of hyperammonemia. | ||
19167850 |
MALE | Infant |
A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age. | ||
Ono H, Suto T, Kinoshita Y, Sakano T, Furue T, Ohta T. Brain Dev. 2009;31(10):779-81. |
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Our clinical experience suggests that CPS1D could be one of the causes of hyperammonemia in early infantile cases. | ||
19167850 |
MALE | Infant |
A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age. | ||
Ono H, Suto T, Kinoshita Y, Sakano T, Furue T, Ohta T. Brain Dev. 2009;31(10):779-81. |
||
Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle which causes hyperammonemia. | ||
9761362 |
FEMALE | |
Hemodialysis catheter placement and recirculation in treatment of hyperammonemia. | ||
Vats A, Kashtan CE, Tuchman M, Mauer M. Pediatr Nephrol. 1998;12(7):592-5. |
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A 2-year-old girl with carbamoyl phosphate synthetase deficiency underwent emergency hemodialysis (HD) for treatment of acute life-threatening hyperammonemia. |