메뉴 건너뛰기




Volumn 124, Issue 3, 1994, Pages 409-415

Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children

Author keywords

[No Author keywords available]

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

EID: 0028265830     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(94)70363-9     Document Type: Article
Times cited : (253)

References (38)
  • 2
    • 0026047987 scopus 로고
    • Heterogeneity for mutations in medium-chain acyl–coA dehydrogenase deficiency in the UK population
    • (1991) Clin Genet , vol.40 , pp. 283-286
    • Curtis1    Blakemore2    Engel3
  • 5
    • 0025302523 scopus 로고
    • Early diagnosis and treatment of neonatal medium-chain acyl–coA dehydrogenase deficiency: report of two siblings
    • (1990) Eur J Pediatr , vol.149 , pp. 577-581
    • Catzeflis1    Bachmann2    Hale3
  • 6
    • 0022638172 scopus 로고
    • Recognition of medium-chain acyl–coA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes
    • (1986) J PEDIATR , vol.108 , pp. 13-18
    • Roe1    Millington2    Maltby3    Kinnebrew4
  • 8
    • 0027167804 scopus 로고
    • Prevalence of medium chain acyl–coenzyme: a dehydrogenase deficiency in the sudden infant death syndrome
    • (1993) J PEDIATR , vol.122 , pp. 715-718
    • Arens1    Gozal2    Jain3
  • 9
    • 0022996369 scopus 로고
    • Medium-chain and long-chain acyl–coA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome
    • (1986) Hepatology , vol.6 , pp. 1270-1278
    • Treem1    Witzleben2    Piccoli3
  • 10
    • 0023917537 scopus 로고
    • Neonatal onset of medium-chain acyl–coA dehydrogenase deficiency in two siblings
    • (1988) Brain Dev , vol.10 , pp. 129-134
    • Nobukuni1    Yokoo2    Ohtani3
  • 11
    • 0021053314 scopus 로고
    • Medium-chain acyl–coA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels
    • (1983) Pediatr Res , vol.17 , pp. 877-884
    • Stanley1    Hale2    Coates3
  • 13
    • 0024344870 scopus 로고
    • Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue
    • (1989) Anal Biochem , vol.180 , pp. 331-339
    • Millington1    Norwood2    Kodo3    Roe4    Inoue5
  • 14
    • 0022001415 scopus 로고
    • Diagnostic and therapeutic implications of medium chain acylcarnitines in the medium-chain acyl–coA dehydrogenase deficiency
    • (1985) Pediatr Res , vol.19 , pp. 459-466
    • Roe1    Millington2    Maltby3
  • 15
    • 0026322069 scopus 로고
    • Molecular survey of a previous mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain acyl–coA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency
    • (1991) Am J Hum Genet , vol.49 , pp. 1280-1291
    • Yokota1    Coates2    Hale3    Rinaldo4    Tanaka5
  • 20
    • 0026725051 scopus 로고
    • The magnitude and origin of European-American admixture in the Gila River Indian Community of Arizona: a union of genetics and demography
    • (1992) Am J Hum Genet , vol.51 , pp. 101-110
    • Williams1    Knowler2    Pettitt3
  • 21
    • 0026560962 scopus 로고
    • Frequency of medium-chain acyl–coA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome
    • (1992) Pediatr Res , vol.31 , pp. 305-307
    • Miller1    Brooks2    Forbes3    Insel4
  • 25
    • 0023714868 scopus 로고
    • Hypoglycaemia in childhood diabetes. I. Clinical signs and hormonal counterregulation
    • (1988) Acta Paediatr Scand , vol.77 , pp. 542-547
    • Aman1    Wranne2
  • 26
    • 0026670085 scopus 로고
    • Reproducibility of glycaemic thresholds for activation of counter regulatory hormones and hypoglycaemic symptoms in healthy subjects
    • (1992) Diabetologia , vol.35 , pp. 958-961
    • Vea1    Jorde2    Sager3    Vaaler4    Sundsfjord5
  • 27
    • 0026691376 scopus 로고
    • Adrenergic mechanisms contribute to the late phase of hypoglycemic glucose counterregulation in humans by stimulating lipolysis
    • (1992) J Clin Invest , vol.89 , pp. 2005-2013
    • Fanelli1    De Feo2    Porcellati3
  • 28
    • 0026035949 scopus 로고
    • Reduced neuroendocrine and symptomatic responses to subsequent hypoglycemia after 1 episode of hypoglycemia in nondiabetic humans
    • (1991) Diabetes , vol.40 , pp. 223-226
    • Heller1    Cryer2
  • 30
    • 0026592191 scopus 로고
    • Intermittent hypoglycemia impairs glucose counterregulation
    • (1992) Diabetes , vol.41 , pp. 1597-1602
    • Widom1    Simonson2
  • 31
    • 0021848699 scopus 로고
    • Measurement of blood cortisol and acid output in patients with duodenal ulceration and normal subjects during insulin hypoglycaemia
    • (1985) Clin Sci , vol.69 , pp. 37-40
    • Athow1    Sewerniak2    Barton3    Clark4    Lewin5
  • 32
    • 0022005583 scopus 로고
    • Recent advances in diagnosis and treatment of gastrointestinal hemorrhage in infants and children
    • (1985) J PEDIATR , vol.106 , pp. 1-9
    • Hyams1    Leitchner2    Schwartz3
  • 35
    • 0020041673 scopus 로고
    • Long-term consequences of Reye syndrome: a sibling-matched, controlled study of neurologic, cognitive, academic, and psychiatric function
    • (1982) J PEDIATR , vol.100 , pp. 41-46
    • Shaywitz1    Cohen2    Cohen3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.