Search Results - "Ifederu, Adeboye"
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Defining the Newborn Blood Spot Screening Reference Interval for TSH: Impact of Ethnicity
Published in The journal of clinical endocrinology and metabolism (01-09-2016)“…Context: There is variability in the congenital hypothyroidism (CH) newborn screening TSH cutoff across the United Kingdom. Objective: To determine the…”
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Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay
Published in International journal of neonatal screening (26-10-2021)“…Spinal muscular atrophy (SMA) is an autosomal inherited neuromuscular genetic disease caused, in 95% of cases, by homozygous deletions involving the SMN1 gene…”
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Establishing risk factors and outcomes for congenital hypothyroidism with gland in situ using population-based data linkage methods: study protocol
Published in BMJ paediatrics open (01-03-2022)“…There has been an increase in the birth prevalence of congenital hypothyroidism (CH) since the introduction of newborn screening, both globally and in the UK…”
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Screening of Neonatal UK Dried Blood Spots Using a Duplex TREC Screening Assay
Published in Journal of clinical immunology (01-04-2014)“…Purpose Severe Combined Immunodeficiency (SCID) is considered to be a paediatric emergency and unless identified promptly can be life-threatening. Frequently,…”
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Newborn blood spot screening for sickle cell disease by using tandem mass spectrometry: implementation of a protocol to identify only the disease states of sickle cell disease
Published in Clinical chemistry (Baltimore, Md.) (01-02-2014)“…The currently recommended technologies of HPLC and isoelectric focusing for newborn blood spot screening for sickle cell disease (SCD) identify both the…”
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Newborn screening for sickle cell disorders using tandem mass spectrometry: three years' experience of using a protocol to detect only the disease states
Published in Annals of clinical biochemistry (01-09-2017)“…Background Tandem mass spectrometry (MS/MS) has recently become an alternative method for the newborn screening of sickle cell disorders (SCD), as it is able…”
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