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1
Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia.
J Med Genet. 1981 Apr;18(2):156-7. doi: 10.1136/jmg.18.2.156.
2
Propionic acidaemia presenting with pancytopaenia in infancy.
J Inherit Metab Dis. 1980;2(3):65-9. doi: 10.1007/BF01801721.
3
Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine.
Scand J Clin Lab Invest. 1981 Apr;41(2):117-26. doi: 10.3109/00365518109092023.
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The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a 'ketotic hyperglycinaemia'.
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5
Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.
Prenat Diagn. 1988 Feb;8(2):161-4. doi: 10.1002/pd.1970080211.
6
Leukocyte propionyl-CoA carboxylase deficiency in a patient with ketotic hyperglycinaemia.
J Inherit Metab Dis. 1980;3(3):93. doi: 10.1007/BF02312537.
7
Clinical and metabolic abnormalities in a boy with dietary deficiency of biotin.
Pediatrics. 1981 Oct;68(4):553-8.
8
Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.
J Pediatr. 1975 May;86(5):707-12. doi: 10.1016/s0022-3476(75)80354-4.
9
Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria.
Pediatr Res. 1977 Nov;11(11):1144-7. doi: 10.1203/00006450-197711000-00006.
10
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.
Pediatrics. 1981 Jul;68(1):113-8.
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Metabolic etiologies in West syndrome.
Epilepsia Open. 2018 Mar 14;3(2):134-166. doi: 10.1002/epi4.12102. eCollection 2018 Jun.
2
Interpretation of plasma amino acids in the follow-up of patients: the impact of compartmentation.
J Inherit Metab Dis. 2008 Feb;31(1):7-20. doi: 10.1007/s10545-007-0772-y. Epub 2008 Jan 31.
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Normal growth and development with unrestricted protein intake after severe infantile propionic acidaemia.
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本文引用的文献
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Letter: Nonketotic hyperglycinemia with increased propionic acid excretion and hyperammonemia.
N Engl J Med. 1976 Mar 4;294(10):558. doi: 10.1056/NEJM197603042941022.
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Letter: Plasma-csf glycine ratio in normal and nonketotic hyperglycinemic subjects.
N Engl J Med. 1975 Oct 9;293(15):778. doi: 10.1056/NEJM197510092931518.
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Nonketotic hyperglycinemia. Glycine accumulation due to absence of glycerine cleavage in brain.
N Engl J Med. 1975 Jun 12;292(24):1269-73. doi: 10.1056/NEJM197506122922404.
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Biochemical differences between mutant propionyl-CoA carboxylases from two complementation groups.
Am J Hum Genet. 1978 Sep;30(5):455-64.
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Propionic acidemia with severe hyperammonemia and defective glycine metabolism.
J Pediatr. 1978 Jan;92(1):84-6. doi: 10.1016/s0022-3476(78)80081-x.
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Strychnine therapy in nonketotic hyperglycinemia.
Pediatrics. 1979 Mar;63(3):369-73.
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