Condition: Pearson's marrow-pancreas syndrome


rs113994167 in ACADVL gene and Pearson's marrow-pancreas syndrome PMID 21932095 2012 VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.

PMID 17374501 2007 Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

PMID 20107901 2010 Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 8845838 1996 Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

PMID 23480858 2013 Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.

rs1555528304 in ACADVL;DLG4 gene and Pearson's marrow-pancreas syndrome PMID 11349232 2001 Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.