Indexed keywords
CAPTOPRIL;
DIGOXIN;
FUROSEMIDE;
MILRINONE;
SPIRONOLACTONE;
BARTH SYNDROME;
CARDIOMYOPATHY;
CASE REPORT;
CLINICAL FEATURE;
EMERGENCY WARD;
HEART MUSCLE BIOPSY;
HOSPITAL ADMISSION;
HOSPITAL DISCHARGE;
HUMAN;
HUMAN TISSUE;
INFANT;
INTENSIVE CARE UNIT;
LABORATORY TEST;
MALE;
MOTOR DYSFUNCTION;
NEUTROPENIA;
PRIORITY JOURNAL;
REVIEW;
ABNORMALITIES, MULTIPLE;
ATAXIA;
CARDIOMYOPATHY, DILATED;
CHROMOSOMES, HUMAN, X;
DEVELOPMENTAL DISABILITIES;
FOLLOW-UP STUDIES;
GENETIC DISEASES, X-LINKED;
GENETIC PREDISPOSITION TO DISEASE;
GROWTH DISORDERS;
HUMANS;
INFANT;
MALE;
MUSCULOSKELETAL DISEASES;
NEUTROPENIA;
PEDIGREE;
SYNDROME;
1
53549088950
Neutropenia in children
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Clinical disorders of neutropenia
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Neutrophil abnormalities
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An X-linked mitochondrial disease affecting cardiac muscle and neutrophil leucocytes
Barth PG, Scholte HR, Berden JA, et al. An X-linked mitochondrial disease affecting cardiac muscle and neutrophil leucocytes. J Neurol Sci 1983; 62:327-355.
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Berden, J.A.3
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Barth syndrome: Clinical features and confirmation of gene localisation to distal Xp28
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Cardiac and clinical phenotype of Barth syndrome
Spencer CT, Bryant RM, Day J, et al. Cardiac and clinical phenotype of Barth syndrome. Pediatrics 2006; 111:e337-e346.
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Spencer, C.T.1
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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update
Barth PG, Valianpour F, Bowen VM, et al. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet 2004; 126:349-354.
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Barth syndrome: Clinical observations and genetic linkage studies
Christodoulou J, McInnes RR, Jay V, et al. Barth syndrome: clinical observations and genetic linkage studies. Am J Med Genet 1994; 50:255-264.
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A novel X-linked gene, G4.5 is responsible for Barth syndrome
Bione S, D'Adamo P, Maestrini E, et al. A novel X-linked gene, G4.5 is responsible for Barth syndrome. Nat Genet 1996; 12:385-389.
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Bione, S.1
D'Adamo, P.2
Maestrini, E.3
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Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28
Bolhuis PA, Hensels GW, Hulsebos TJM, et al. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. Am J Hum Genet 1991; 48:481-485.
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Bolhuis, P.A.1
Hensels, G.W.2
Hulsebos, T.J.M.3
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Mutation characterization and genotype-phenotype correlation in Barth syndrome
Johnston J, Kelley Rl, Feigenbaum A, et al. Mutation characterization and genotype-phenotype correlation in Barth syndrome. Am J Hum Genet 1997; 61:1053-1058.
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Johnston, J.1
Kelley, R.2
Feigenbaum, A.3
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Decreased cardiolipin synthesis corresponds with cytochrome c release in palmitate-induced cardiomyocyte apoptosis
Ostrander DB, Sparagna GC, Amostcato AA, et al. Decreased cardiolipin synthesis corresponds with cytochrome c release in palmitate-induced cardiomyocyte apoptosis. J Biol Chem 2001; 276:38061-38067.
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Ostrander, D.B.1
Sparagna, G.C.2
Amostcato, A.A.3
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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)- MIM 302060
Barth PG, Wanders RJ, Vreken P. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)- MIM 302060. J Pediatr 1999; 135:273-276.
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Barth, P.G.1
Wanders, R.J.2
Vreken, P.3
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Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome
Spencer CT, Byrne BJ, Gewitz MH, et al. Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome. Pediatr Cardiol 2005; 26:632-637.
(2005)
Pediatr Cardiol
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Spencer, C.T.1
Byrne, B.J.2
Gewitz, M.H.3