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Volumn 21, Issue 5, 1999, Pages 826-829

Hyperpipecolic acidemia: Clinical, biochemical, and radiologic observations

Author keywords

[No Author keywords available]

Indexed keywords

BIOCHEMICAL MARKER; CLONAZEPAM; PIPECOLIC ACID;

EID: 0032742427     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(99)00085-5     Document Type: Article
Times cited : (10)

References (14)
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    • Powers J.M., Moser H.W. Peroxisomal disorders Genotype, phenotype, major neuropathologic lesions, and pathogenesis . Brain Pathol. 8:1998;101-120.
    • (1998) Brain Pathol , vol.8 , pp. 101-120
    • Powers, J.M.1    Moser, H.W.2
  • 3
    • 84935546207 scopus 로고
    • Disorders of very long chain fatty acids
    • R. Behrman, R. Kliegman, W. Nelson, & V. III Vaughan. Philadelphia: WB Saunders
    • Moser H. Disorders of very long chain fatty acids. Behrman R., Kliegman R., Nelson W., Vaughan V. III. Nelson textbook of pediatrics. 14th ed. 1992;338-344 WB Saunders, Philadelphia.
    • (1992) Nelson Textbook of Pediatrics 14th Ed. , pp. 338-344
    • Moser, H.1
  • 4
    • 0000228425 scopus 로고
    • Disorders of peroxisome biogenesis
    • C.R. Scriver, A.L. Beaudet, W.S. Sly, & D. Valle. New York: McGraw-Hill
    • Lazarow P., Moser H. Disorders of peroxisome biogenesis. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The metabolic and molecular bases of inherited diseases. 7th ed. 1995;2287-2324 McGraw-Hill, New York.
    • (1995) The Metabolic and Molecular Bases of Inherited Diseases 7th Ed. , pp. 2287-2324
    • Lazarow, P.1    Moser, H.2
  • 5
    • 0019780183 scopus 로고
    • Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings
    • Burton B., Reed S., Remy W. Hyperpipecolic acidemia Clinical and biochemical observations in two male siblings . J Pediatr. 99:1981;729-734.
    • (1981) J Pediatr , vol.99 , pp. 729-734
    • Burton, B.1    Reed, S.2    Remy, W.3
  • 6
    • 0016590970 scopus 로고
    • Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease
    • Thomas G., Haslam R., Batshaw M., Capute A., Neidengard L., Ransom J. Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease. Clin Genet. 8:1975;376-382.
    • (1975) Clin Genet , vol.8 , pp. 376-382
    • Thomas, G.1    Haslam, R.2    Batshaw, M.3    Capute, A.4    Neidengard, L.5    Ransom, J.6
  • 7
    • 0014433575 scopus 로고
    • Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly
    • Gatfield P., Taller E., Hinton G., Wallace A., Abdelnour G., Haust M. Hyperpipecolatemia A new metabolic disorder associated with neuropathy and hepatomegaly . Can Med Assoc J. 99:1968;1215-1233.
    • (1968) Can Med Assoc J , vol.99 , pp. 1215-1233
    • Gatfield, P.1    Taller, E.2    Hinton, G.3    Wallace, A.4    Abdelnour, G.5    Haust, M.6
  • 11
    • 0022610977 scopus 로고
    • Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction
    • Poll-The B., Saudubray J.M., Ogier H., et al. Infantile Refsum's disease Biochemical findings suggesting multiple peroxisomal dysfunction . J Inherit Metab Dis. 9:1986;169-174.
    • (1986) J Inherit Metab Dis , vol.9 , pp. 169-174
    • Poll-The, B.1    Saudubray, J.M.2    Ogier, H.3
  • 12
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    • Hepatic peroxisomes are deficient in infantile Refsum's disease: A cytochemical study in 4 cases
    • Roels F., Cornelis A., Poll-The B.T., et al. Hepatic peroxisomes are deficient in infantile Refsum's disease A cytochemical study in 4 cases . Am J Med Genet. 25:1986;257-271.
    • (1986) Am J Med Genet , vol.25 , pp. 257-271
    • Roels, F.1    Cornelis, A.2    Poll-The, B.T.3
  • 13
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    • Infantile Refsum's disease: An inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy
    • Poll-The B.T., Saudubray J.M., Ogier H., et al. Infantile Refsum's disease An inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy . Eur J Pediatr. 146:1987;477-483.
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  • 14
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    • Pathologic alterations in the brain and liver in hyperpipecolic acidemia
    • Challa V., Geisinger K., Burton B. Pathologic alterations in the brain and liver in hyperpipecolic acidemia. J Neuropathol Exp Neurol. 42:1983;627-638.
    • (1983) J Neuropathol Exp Neurol , vol.42 , pp. 627-638
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.