FERNANDO SCAGLIA to Carnitine
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Carnitine.
Connection Strength
1.573
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Disorders of carnitine biosynthesis and transport. Mol Genet Metab. 2015 Nov; 116(3):107-12.
Score: 0.492
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Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism. BMC Pediatr. 2002 Dec 30; 2:12.
Score: 0.204
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Functional characterization of the carnitine transporter defective in primary carnitine deficiency. Arch Biochem Biophys. 1999 Apr 01; 364(1):99-106.
Score: 0.157
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Primary and secondary alterations of neonatal carnitine metabolism. Semin Perinatol. 1999 Apr; 23(2):152-61.
Score: 0.157
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Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency. Genet Med. 1998 Nov-Dec; 1(1):34-9.
Score: 0.153
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MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):4-12.
Score: 0.121
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Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation. Am J Med Genet A. 2015 Sep; 167A(9):2162-7.
Score: 0.120
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Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. Hum Mutat. 2010 Aug; 31(8):E1632-51.
Score: 0.086
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Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. Genet Med. 2010 Jan; 12(1):19-24.
Score: 0.083