Biochemical markers for the diagnosis of mitochondrial fatty acid oxidation diseases
P Ruiz-Sala, L Peña-Quintana - Journal of Clinical Medicine, 2021 - mdpi.com
Mitochondrial fatty acid β-oxidation (FAO) contributes a large proportion to the body's energy
needs in fasting and in situations of metabolic stress. Most tissues use energy from fatty …
needs in fasting and in situations of metabolic stress. Most tissues use energy from fatty …
Neonatal screening for inherited metabolic diseases in 2016
JG Villoria, S Pajares, RM López, JL Marin… - Seminars in Pediatric …, 2016 - Elsevier
The scope of newborn screening (NBS) programs is continuously expanding. NBS programs
are secondary prevention interventions widely recognized internationally in the “field of …
are secondary prevention interventions widely recognized internationally in the “field of …
A nationwide retrospective observational study of population newborn screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in the Netherlands
EA Jager, MM Kuijpers, AM Bosch… - Journal of Inherited …, 2019 - Wiley Online Library
To evaluate the Dutch newborn screening (NBS) for medium‐chain acyl‐CoA
dehydrogenase (MCAD) deficiency since 2007, a nationwide retrospective, observational …
dehydrogenase (MCAD) deficiency since 2007, a nationwide retrospective, observational …
Validated method for the quantification of free and total carnitine, butyrobetaine, and acylcarnitines in biological samples
PE Minkler, MSK Stoll, ST Ingalls, J Kerner… - Analytical …, 2015 - ACS Publications
A validated quantitative method for the determination of free and total carnitine,
butyrobetaine, and acylcarnitines is presented. The versatile method has four …
butyrobetaine, and acylcarnitines is presented. The versatile method has four …
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency
V Rovelli, F Manzoni, K Viau, M Pasquali… - Molecular Genetics and …, 2019 - Elsevier
Abstract Background Very-Long-Chain Acyl-CoA Dehydrogenase (VLCAD) deficiency is a
disorder of fatty acid oxidation included in the recommended uniform newborn screening …
disorder of fatty acid oxidation included in the recommended uniform newborn screening …
Recent developments in the analytical approaches of acyl-CoAs to assess their role in mitochondrial fatty acid oxidation disorders
M Singh, HL Elfrink, AC Harms… - Molecular Genetics and …, 2023 - Elsevier
Fatty acid oxidation disorders (FAOD) are inborn errors of metabolism that occur due to
deficiency of specific enzyme activities and transporter proteins involved in the mitochondrial …
deficiency of specific enzyme activities and transporter proteins involved in the mitochondrial …
[HTML][HTML] Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing
A Narravula, KB Garber, SH Askree, M Hegde… - Genetics in Medicine, 2017 - Elsevier
Purpose As exome and genome sequencing using high-throughput sequencing
technologies move rapidly into the diagnostic process, laboratories and clinicians need to …
technologies move rapidly into the diagnostic process, laboratories and clinicians need to …
New ratios for performance improvement for identifying acyl-CoA dehydrogenase deficiencies in expanded newborn screening: a retrospective study
B Wang, Q Zhang, A Gao, Q Wang, J Ma, H Li… - Frontiers in …, 2019 - frontiersin.org
Some success in identifying acyl-CoA dehydrogenase (ACAD) deficiencies before they are
symptomatic has been achieved through tandem mass spectrometry. However, there has …
symptomatic has been achieved through tandem mass spectrometry. However, there has …
Post-analytical tools for the triage of newborn screening results in follow-up can reduce confirmatory testing and guide performance improvement
PL Hall, A Wittenauer, A Hagar - International journal of neonatal …, 2020 - mdpi.com
Georgia uses post-analytical tools through Collaborative Laboratory Integrated Reports
(CLIR) to triage abnormal newborn screening (NBS) results for follow-up. Condition specific …
(CLIR) to triage abnormal newborn screening (NBS) results for follow-up. Condition specific …
[HTML][HTML] cis-4-Decenoic and decanoic acids impair mitochondrial energy, redox and Ca2+ homeostasis and induce mitochondrial permeability transition pore opening …
AU Amaral, C Cecatto, JC da Silva, A Wajner… - … et Biophysica Acta (BBA …, 2016 - Elsevier
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is biochemically characterized
by tissue accumulation of octanoic (OA), decanoic (DA) and cis-4-decenoic (cDA) acids, as …
by tissue accumulation of octanoic (OA), decanoic (DA) and cis-4-decenoic (cDA) acids, as …