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Volumn 161, Issue 3, 2012, Pages 557-559

Nonketotic hyperglycinemia presenting as pulmonary hypertensive vascular disease and fatal pulmonary edema in response to pulmonary vasodilator therapy

Author keywords

[No Author keywords available]

Indexed keywords

CATECHOLAMINE; DIURETIC AGENT; GLYCINE; NITRIC OXIDE; PERIPHERAL VASODILATING AGENT;

EID: 84865329054     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2012.04.044     Document Type: Article
Times cited : (16)

References (10)
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  • 2
    • 0027284252 scopus 로고
    • Non-ketotic hyperglycinaemia: Molecular lesion, diagnosis and pathophysiology
    • K. Tada, and S. Kure Nonketotic hyperglycinemia: molecular lesion, diagnosis and pathophysiology J Inherit Metab Dis 16 1993 691 703 (Pubitemid 23237050)
    • (1993) Journal of Inherited Metabolic Disease , vol.16 , Issue.4 , pp. 691-703
    • Tada, K.1    Kure, S.2
  • 3
    • 0034788469 scopus 로고    scopus 로고
    • Nonketotic hyperglycinemia (Glycine Encephalopathy): Laboratory diagnosis
    • DOI 10.1006/mgme.2001.3224
    • D.A. Applegarth, and J.R. Toone Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis Mol Genet Metab 74 2001 139 146 (Pubitemid 32955155)
    • (2001) Molecular Genetics and Metabolism , vol.74 , Issue.1-2 , pp. 139-146
    • Applegarth, D.A.1    Toone, J.R.2
  • 4
    • 26244450017 scopus 로고    scopus 로고
    • Atypical variants of nonketotic hyperglycinemia
    • DOI 10.1016/j.ymgme.2005.07.016, PII S1096719205002301, ASHG 2005 Meeting Salt Lake City
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    • Dinopoulos, A.1    Matsubara, Y.2    Kure, S.3
  • 6
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    • Nonketotic hyperglycinemia: Analyses of glycine cleavage system in typical and atypical cases
    • DOI 10.1016/S0022-3476(87)80399-2
    • K. Hayasaka, K. Tada, N. Fueki, Y. Nakamura, W.L. Nyhan, and K. Schmidt Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases J Pediatr 110 1987 873 877 (Pubitemid 17080433)
    • (1987) Journal of Pediatrics , vol.110 , Issue.6 , pp. 873-877
    • Hayasaka, K.1    Tada, K.2    Fueki, N.3
  • 8
    • 77951040822 scopus 로고    scopus 로고
    • Proteomic analysis in cerebrospinal fluid of patients with atypical nonketotic hyperglycinemia and pulmonary hypertension-a pilot study
    • C.E. Rodríguez, J.A. Arranz, N. Colomé, J.J. Bech-Serra, F. Canals, and M. Del Toro Proteomic analysis in cerebrospinal fluid of patients with atypical nonketotic hyperglycinemia and pulmonary hypertension-a pilot study Proteomics Clin Appl 3 2009 130 139
    • (2009) Proteomics Clin Appl , vol.3 , pp. 130-139
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    • M. del Toro, J.A. Arranz, A. Macaya, E. Riudor, M. Raspall, and A. Moreno Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension Ann Neurol 60 2006 148 152
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  • 10
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    • A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.