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1
Familial lysinuric protein intolerance presenting as coma in two adult siblings.
J Neurol Neurosurg Psychiatry. 1989 May;52(5):648-51. doi: 10.1136/jnnp.52.5.648.
3
Prolonged coma and isoelectric electroencephalogram in a child with lysinuric protein intolerance.
J Pediatr. 1977 Jul;91(1):79-81. doi: 10.1016/s0022-3476(77)80451-4.
4
Necropsy findings in lysinuric protein intolerance.
J Clin Pathol. 1996 Apr;49(4):345-7. doi: 10.1136/jcp.49.4.345.
7
Lysinuric protein intolerance presenting deficiency of argininosuccinate synthetase.
Intern Med. 1992 Jan;31(1):55-9. doi: 10.2169/internalmedicine.31.55.
8
An inherited enzyme deficiency resulting in hyperammonaemia and coma in a burn patient.
Burns Incl Therm Inj. 1987 Jun;13(3):229-31. doi: 10.1016/0305-4179(87)90171-9.
9
Improving a Rare Metabolic Disorder Through Kidney Transplantation: A Case Report of a Patient With Lysinuric Protein Intolerance.
Am J Kidney Dis. 2023 Apr;81(4):493-496. doi: 10.1053/j.ajkd.2022.08.019. Epub 2022 Oct 9.
10
Nutrient intake in lysinuric protein intolerance.
J Inherit Metab Dis. 2007 Oct;30(5):716-21. doi: 10.1007/s10545-007-0558-2. Epub 2007 Jun 21.

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1
Lysinuric protein intolerance mimicking -acetylglutamate synthase deficiency in a nine-year-old boy.
Mol Genet Metab Rep. 2021 Mar 13;27:100741. doi: 10.1016/j.ymgmr.2021.100741. eCollection 2021 Jun.
2
The importance of the ionic product for water to understand the physiology of the acid-base balance in humans.
Biomed Res Int. 2014;2014:695281. doi: 10.1155/2014/695281. Epub 2014 Apr 30.

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2
"Basolateral" and mitochondrial membrane transport defect in the hepatocytes in lysinuric protein intolerance.
Acta Paediatr Scand. 1983 Jan;72(1):65-70. doi: 10.1111/j.1651-2227.1983.tb09665.x.
3
Enzymes of urea synthesis in familial protein intolerance with deficient transport of basic amino acids.
Acta Paediatr Scand. 1967 Nov;56(6):631-6. doi: 10.1111/j.1651-2227.1967.tb15989.x.
4
Hyperdibasicaminoaciduria: an inherited disorder of amino acid transport.
Pediatr Res. 1968 Nov;2(6):525-34. doi: 10.1203/00006450-196811000-00011.
6
Congenital lysinuria: a new inherited transport disorder of dibasic amino acids.
J Pediatr. 1970 Aug;77(2):259-66. doi: 10.1016/s0022-3476(70)80333-x.
7
Hyperlysinuria with hyperammonemia. A new metabolic disorder.
Am J Dis Child. 1972 Jul;124(1):127-32. doi: 10.1001/archpedi.1972.02110130129021.
8
Defective metabolic clearance of plasma arginine and ornithine in lysinuric protein intolerance.
Metabolism. 1974 Aug;23(8):691-701. doi: 10.1016/0026-0495(74)90001-8.
9
Protein intolerance with deficient transport of basic aminoacids. Another inborn error of metabolism.
Lancet. 1965 Oct 23;2(7417):813-6. doi: 10.1016/s0140-6736(65)92446-3.

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