The presence of white cell Jordan's anomaly in multiple Acyl-CoA dehydrogenase deficiency: A case report and implications for clinical practice

CONCLUSION: The identification of Jordan's anomaly in a pediatric patient with late-onset MADD sheds light on its broader implications within the realm of lipid storage myopathies. The significance of this finding extends beyond its conventional association with NLSD, challenging the notion of its exclusivity. This novel observation serves as a compelling reminder of the diagnostic significance this morphological abnormality holds, potentially revolutionizing diagnostic practices within the field.PMID:38401771 | DOI:10.1016/j.clinbiochem.2024.110735
Source: Clinical Biochemistry - Category: Biochemistry Authors: Source Type: research