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Summary
ARTEFACTS AND PITFALLS : PHARMACEUTICAL PRODUCTS, INTERFERENCE IN AMINOACID AND ORGANIC ACID ANALYSIS: PIVMECILLINAM
FALSE POSITIVE NEWBORN SCREENING
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OMIM = Online Medalian Inheritance of Men
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Detail information to gene locus by the National Center for Biotechnology Information NCBI:
False positive newborn screening results for IVA due to maternal pivmecillinam administration cause parental anxiety and unnecessary hospitalizations [Hammersen J 2020]
symptoms
no consistent clinical signs or symptoms
onset, neonatal
laboratory finding
Isovalerylcarnitine (C5) +€mol/lblood
Literature
Sheth J,et al.Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literatureBMC Med Genet01812017
Geberhiwot T,et al.Consensus clinical management guidelines for Niemann-Pick disease type COrphanet J Rare Dis131502018
Collardeau-Frachon S,et al.Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy casesPediatr Diabetes167510-5202015
Torres S,et al.Lysosomal and Mitochondrial Liaisons in Niemann-Pick DiseaseFront Physiol809822017