Background: Primary carnitine deficiency (PCD) is an autosomal recessive disease caused by mutations in the SLC22A5 gene, which encodes the organic cation transporter 2 (OCTN2). Patients with PCD may be at risk of skeletal or cardiac myopathy, metabolic decompensation, and even sudden death. This study aimed to analyze the biochemical, clinical, and genetic characteristics of PCD patients identified by newborn screening (NBS) in Shanghai.Methods: Dried blood spot (DBS) samples of newborns were analyzed through tandem mass spectrometry (MS/MS) from January 2003 to December 2021. Newborns with low free carnitine (C0) levels were recalled. Mutation in the SLC22A5 gene was analyzed on suspected positive newborns with low C0 levels after recall....
Abstract Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder, caused by defici...
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is an inherited disorder of mitochondrial fatty...
BackgroundNewborn screening (NBS) programmes identify a wide range of disease phenotypes, which rais...
Background: Primary carnitine deficiency (PCD) is an autosomal recessive disease caused by mutations...
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 mem...
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 mem...
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 mem...
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 mem...
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 mem...
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 mem...
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 mem...
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 mem...
Background: Primary carnitine deficiency (PCD) is attributed to a variation in the SLC22A5 (OCTN2) g...
Background: Primary carnitine deficiency (PCD) is an autosomal recessive disease caused by mutations...
Background: Primary carnitine deficiency (PCD) is attributed to a variation in the SLC22A5 (OCTN2) g...
Abstract Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder, caused by defici...
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is an inherited disorder of mitochondrial fatty...
BackgroundNewborn screening (NBS) programmes identify a wide range of disease phenotypes, which rais...
Background: Primary carnitine deficiency (PCD) is an autosomal recessive disease caused by mutations...
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 mem...
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 mem...
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 mem...
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 mem...
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 mem...
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 mem...
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 mem...
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 mem...
Background: Primary carnitine deficiency (PCD) is attributed to a variation in the SLC22A5 (OCTN2) g...
Background: Primary carnitine deficiency (PCD) is an autosomal recessive disease caused by mutations...
Background: Primary carnitine deficiency (PCD) is attributed to a variation in the SLC22A5 (OCTN2) g...
Abstract Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder, caused by defici...
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is an inherited disorder of mitochondrial fatty...
BackgroundNewborn screening (NBS) programmes identify a wide range of disease phenotypes, which rais...