April Studinski
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View article: P051: Impact of prenatal fentanyl exposure on sterol analysis for Smith-Lemli-Opitz syndrome in newborns
P051: Impact of prenatal fentanyl exposure on sterol analysis for Smith-Lemli-Opitz syndrome in newborns Open
View article: P003: Glucosylsphingosine and its utility for newborn screening for Gaucher disease*
P003: Glucosylsphingosine and its utility for newborn screening for Gaucher disease* Open
View article: P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia*
P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia* Open
Friedreich ataxia (FA; OMIM 229300) is an autosomal recessive disorder with a frequency of 3-4:50,000 people and characterized by progressive spasticity, ataxia, dysarthria, absent lower limb reflexes, sensory loss, and scoliosis. Cardiomy…
View article: O03: Exploiting narrow therapeutic windows: Utility of the urine purines and pyrimidines test for molybdenum cofactor deficiency A patients*
O03: Exploiting narrow therapeutic windows: Utility of the urine purines and pyrimidines test for molybdenum cofactor deficiency A patients* Open
View article: P018: Clinical availability of functional assays: Identifying assays at risk and pathways to ensure appropriate patient care
P018: Clinical availability of functional assays: Identifying assays at risk and pathways to ensure appropriate patient care Open
View article: Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D‐2‐hydroxyglutaric aciduria
Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D‐2‐hydroxyglutaric aciduria Open
Introduction Nonaccidental trauma (NAT) is considered when pediatric patients present with intracranial injuries and a negative history of an accidental injury or concomitant medical diagnosis. The evaluation of NAT should include the cons…
View article: Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I Open
Enzyme-based newborn screening for Mucopolysaccharidosis type I (MPS I) has a high false-positive rate due to the prevalence of pseudodeficiency alleles, often resulting in unnecessary and costly follow up. The glycosaminoglycans (GAGs), d…