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Volumn 35, Issue 8, 2016, Pages 1048-1049

Heart transplantation in a child with congenital disorder of glycosylation

Author keywords

[No Author keywords available]

Indexed keywords

AMINO TERMINAL PRO BRAIN NATRIURETIC PEPTIDE; CAPTOPRIL; DIURETIC AGENT; MILRINONE;

EID: 84977562414     PISSN: 10532498     EISSN: 15573117     Source Type: Journal    
DOI: 10.1016/j.healun.2016.05.007     Document Type: Letter
Times cited : (7)

References (8)
  • 1
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    • Congenital disorders of glycosylation. xAccessed November 10, 2015.
    • 1 National Organization for Rare Disorders. Congenital disorders of glycosylation. 2012. https://rarediseases.org/rare-diseases/congenital-disorders-of-glycosylation/. Accessed November 10, 2015.
    • (2012)
  • 2
    • 84991534464 scopus 로고    scopus 로고
    • van den Heuvel L. Congenital Disorders of Glycosylation. In: Blau N, Duran M, Gibson K M, Dionisi-Vici C (Eds.) Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer-Verlag Berlin Heidelberg; 483-512.
    • 2 Jaeken J, van den Heuvel L. Congenital Disorders of Glycosylation. In: Blau N, Duran M, Gibson K M, Dionisi-Vici C (Eds.) Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer-Verlag Berlin Heidelberg; 2014:483-512.
    • (2014)
    • Jaeken, J.1
  • 3
    • 78650401291 scopus 로고    scopus 로고
    • Congenital disorders of glycosylation
    • 3 Jaeken, J., Congenital disorders of glycosylation. Ann NY Acad Sci 1214 (2010), 190–198.
    • (2010) Ann NY Acad Sci , vol.1214 , pp. 190-198
    • Jaeken, J.1
  • 4
    • 0032589320 scopus 로고    scopus 로고
    • A comparison of VO2(peak) between patients with congenital heart disease and healthy subjects, all aged 8-17 years
    • 4 Fredriksen, P.M., Ingjer, F., Nystad, W., et al. A comparison of VO2(peak) between patients with congenital heart disease and healthy subjects, all aged 8-17 years. Eur J Appl Physiol Occup Physiol 80 (1999), 409–416.
    • (1999) Eur J Appl Physiol Occup Physiol , vol.80 , pp. 409-416
    • Fredriksen, P.M.1    Ingjer, F.2    Nystad, W.3
  • 5
    • 33847228036 scopus 로고    scopus 로고
    • Defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy
    • 5 Kranz, C., Jungeblut, C., Denecke, J., et al. Defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am J Hum Genet 80 (2007), 433–440.
    • (2007) Am J Hum Genet , vol.80 , pp. 433-440
    • Kranz, C.1    Jungeblut, C.2    Denecke, J.3
  • 6
    • 84855283452 scopus 로고    scopus 로고
    • Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation
    • 6 Lefeber, D.J., de Brouwer, A.P.M., Morava, E., et al. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet, 7, 2011, e1002427.
    • (2011) PLoS Genet , vol.7 , pp. e1002427
    • Lefeber, D.J.1    de Brouwer, A.P.M.2    Morava, E.3
  • 7
    • 0036392644 scopus 로고    scopus 로고
    • Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia
    • 7 Marquardt, T., Hulskamp, G., Gehrmann, J., et al. Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia. Eur J Pediatr 161 (2002), 524–527.
    • (2002) Eur J Pediatr , vol.161 , pp. 524-527
    • Marquardt, T.1    Hulskamp, G.2    Gehrmann, J.3
  • 8
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    • Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema
    • 8 Noelle, V., Knuepfer, M., Pulzer, F., et al. Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema. Eur J Pediatr 164 (2005), 223–226.
    • (2005) Eur J Pediatr , vol.164 , pp. 223-226
    • Noelle, V.1    Knuepfer, M.2    Pulzer, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.