Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine
catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of …

Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem
mass spectrometry through a worldwide collaborative effort. Methods: Cumulative …

Homozygosity for the T allele of the C677T polymorphism of the gene encoding the folate
dependent enzyme 5, 10-methylenetetrahydrofolate reductase (MTHFR) is a risk factor for …

Folic acid can prevent neural tube defects; in some cases the mechanism is probably a
correction of a metabolic defect caused by thermolabile methylenetetrahydrofolate …

Background: B-type natriuretic peptide (BNP) is a marker for ventricular dysfunction secreted
as a pre-prohormone, pro-B-type natriuretic peptide (proBNP), and cleaved into BNP and a …

METHODS: The newborn screening records of all individuals who were diagnosed with CHT
between 1979 and 2016 were reviewed. Infants with positive screening results had a whole …

There were four objectives in this study:(1) determine the incidence of cystic fibrosis (CF) in
Ireland;(2) estimate the cost of diagnosing CF;(3) clarify the characteristics and outcomes of …

Objectives To evaluate the timing of a delayed rise in thyroid-stimulating hormone (TSH)
levels in preterm infants with congenital hypothyroidism, and to determine whether cases of …

Transferase-deficient galactosaemia, resulting from deficient activity of galactose-1-
phosphate uridyltransferase (GALT), is relatively common among the Travellers, an …

Short‐chain enoyl‐CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of
metabolism caused by biallelic mutations in the gene ECHS1 (OMIM 602292). Clinical …