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Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review

Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim

Clin Exp Pediatr. 2016;59(Suppl 1):S45-S48. Published online November 30, 2016

Crossref 3

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so...

DOI: https://doi.org/10.3345/kjp.2016.59.11.S45

Cytogenetic evaluation of a patient with ring chromosome 9 presenting failure to thrive and developmental delay

Yun Mi Park, Han Nae Nho, Sook Za Kim, Young Min Ahn

Clin Exp Pediatr. 2008;51(4):426-430. Published online April 15, 2008

We report clinical, cytogenetic, and fluorescence in situ hybridization (FISH) studies of a patient with ring chromosome 9. She presented with failure to thrive, facial dysmorphysm and mild psychomotor development delay in the absence of major malformations. Peripheral blood karyotype of the patient was 46,XX,r(9)(p24q34). G-band analysis suggested no loss of material in the ring chromosomes. FISH analysis using the...

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