Use of dried blood spot specimens to monitor patients with inherited metabolic disorders
SJ Moat, RS George, RS Carling - International journal of neonatal …, 2020 - mdpi.com
Monitoring of patients with inherited metabolic disorders (IMDs) using dried blood spot
(DBS) specimens has been routinely used since the inception of newborn screening (NBS) …
(DBS) specimens has been routinely used since the inception of newborn screening (NBS) …
Clinical feasibility of dried blood spots: analytics, validation, and applications
Y Enderle, K Foerster, J Burhenne - Journal of Pharmaceutical and …, 2016 - Elsevier
Dried blood spots (DBS) sampling and their specific advantages are becoming common in
analytical and clinical routine. Being first established for metabolic disorder screening in …
analytical and clinical routine. Being first established for metabolic disorder screening in …
[HTML][HTML] Newborn screening
JJ Pitt - The Clinical Biochemist Reviews, 2010 - ncbi.nlm.nih.gov
Early detection of many disorders, mainly inherited, is feasible with population-wide analysis
of newborn dried blood spot samples. Phenylketonuria was the prototype disorder for …
of newborn dried blood spot samples. Phenylketonuria was the prototype disorder for …
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn …
TH Zytkovicz, EF Fitzgerald, D Marsden… - Clinical …, 2001 - academic.oup.com
Background: Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn
screening programs to screen dried blood spots for> 20 markers of disease in a single …
screening programs to screen dried blood spots for> 20 markers of disease in a single …
Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme
ML Couce, DE Castiñeiras, MD Bóveda, A Baña… - Molecular genetics and …, 2011 - Elsevier
Newborn screening (NBS) by tandem mass spectrometry started in Galicia (Spain) in 2000.
We analyse the results of screening and clinical follow-up of inborn errors of metabolism …
We analyse the results of screening and clinical follow-up of inborn errors of metabolism …
Long-term outcomes of individuals with metabolic diseases identified through newborn screening
U Mütze, SF Garbade, G Gramer, M Lindner… - …, 2020 - publications.aap.org
BACKGROUND: Although extended newborn screening (NBS) programs have been
introduced more than 20 years ago, their impact on the long-term clinical outcome of …
introduced more than 20 years ago, their impact on the long-term clinical outcome of …
[HTML][HTML] Newborn screening for inherited metabolic disorders; news and views
M Pourfarzam, F Zadhoush - … of research in medical sciences: the …, 2013 - ncbi.nlm.nih.gov
Newborn screening is important for the early detection of many congenital genetic and
metabolic disorders, aimed at the earliest possible recognition and management of affected …
metabolic disorders, aimed at the earliest possible recognition and management of affected …
Dried blood spots: analysis and applications
PA Demirev - Analytical chemistry, 2013 - ACS Publications
This literature review highlights recent advances and challenges in applying dried blood
spots (DBS) as a cumulative technique for sample acquisition, transport, archiving, and …
spots (DBS) as a cumulative technique for sample acquisition, transport, archiving, and …
A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism
MJ Thomason, J Lord, MD Bain… - Journal of Public …, 1998 - academic.oup.com
Background Developments in screening technology and increased understanding of the
natural history and treatment of inborn errors of metabolism (IEMs) have produced pressure …
natural history and treatment of inborn errors of metabolism (IEMs) have produced pressure …
Inborn errors of metabolism and expanded newborn screening: review and update
CM Mak, HCH Lee, AYW Chan… - Critical reviews in clinical …, 2013 - Taylor & Francis
Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogeneous
group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning …
group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning …