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Volumn 18, Issue 2, 1998, Pages 160-163

Glutaric acidemia type 1: First Saudi patient diagnosed by tandem mass spectrometry-based neonatal screening

Author keywords

[No Author keywords available]

Indexed keywords

BACLOFEN; CARNITINE; DIAZEPAM; GLUTARYL COENZYME A DEHYDROGENASE; RIBOFLAVIN;

EID: 0031668109     PISSN: 02564947     EISSN: None     Source Type: Journal    
DOI: 10.5144/0256-4947.1998.160     Document Type: Article
Times cited : (5)

References (15)
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    • (1991) J Pediatr , vol.118 , pp. 52-58
    • Haworth, J.C.1    Booth, P.A.2    Chudley, A.E.3    DeGroot, G.W.4    Dilling, L.A.5    Goodman, S.I.6
  • 4
    • 0026316639 scopus 로고
    • Glutaric aciduria type 1: A common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania
    • Morton HD, Bennett MJ, Seargeant LE, Nichter CA, Kelley RI. Glutaric aciduria type 1: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am J Med Genet 1991;41:89-95.
    • (1991) Am J Med Genet , vol.41 , pp. 89-95
    • Morton, H.D.1    Bennett, M.J.2    Seargeant, L.E.3    Nichter, C.A.4    Kelley, R.I.5
  • 5
    • 17744405461 scopus 로고
    • Glutaric aciduria: A common metabolic disorder?
    • Kyllerman M, Steen G. Glutaric aciduria: a common metabolic disorder? (letter) Arch Fr Pediatr 1980;37:279.
    • (1980) Arch fr Pediatr , vol.37 , pp. 279
    • Kyllerman, M.1    Steen, G.2
  • 7
    • 0028964466 scopus 로고
    • CT and MRI of the brain in glutaric acidemia type 1: A review of 59 published cases and a report of 5 new patients
    • Brismar J, Ozand PT. CT and MRI of the brain in glutaric acidemia type 1: a review of 59 published cases and a report of 5 new patients. AJNR 1995;16:675-83.
    • (1995) AJNR , vol.16 , pp. 675-683
    • Brismar, J.1    Ozand, P.T.2
  • 8
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    • Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry
    • Rashed MS, Ozand PT, Bucknall MP, Little D. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res 1995;38:324-31.
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    • Rashed, M.S.1    Ozand, P.T.2    Bucknall, M.P.3    Little, D.4
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    • Amino acids as central nervous neuro-transmitters: The influence of ions, amino acid analogues, and ontogeny on transport systems for L-glutamic and L-aspartic acids and glycine into central nervous synaptosomes of the rat
    • Bennett JP, Logan WJ, Snyder SH. Amino acids as central nervous neuro-transmitters: the influence of ions, amino acid analogues, and ontogeny on transport systems for L-glutamic and L-aspartic acids and glycine into central nervous synaptosomes of the rat. J Neurochem 1973;21:1533-50.
    • (1973) J Neurochem , vol.21 , pp. 1533-1550
    • Bennett, J.P.1    Logan, W.J.2    Snyder, S.H.3
  • 13
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    • Hypothesis: A role for quinolinic acid in the neuropathology of glutaric aciduria type 1
    • Heyes MP. Hypothesis: a role for quinolinic acid in the neuropathology of glutaric aciduria type 1. Can J Neurol Sci 1987;14:441-3.
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  • 14
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    • Subdural hematoma and glutaric aciduria type 1
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    • (1993) Brain Devel , vol.15 , pp. 460-461
    • Drigo, P.1    Burlina, A.B.2    Battistella, P.A.3
  • 15
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    • Chronic subdural hematoma as an initial manifestation of glutaric aciduria type 1
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.