Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme

scientific article published on 22 September 2011

Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.YMGME.2011.09.021
P698PubMed publication ID22000754

P50authorJosé M FragaQ57686568
José Ramón Alonso-FernándezQ58803416
María L CouceQ64175929
Cristóbal ColónQ64532843
P2093author name stringDaisy E Castiñeiras
José A Cocho
Ma Dolores Bóveda
Ana Baña
Agustín J Iglesias
P2860cites workNewborn screening: toward a uniform screening panel and system--executive summaryQ28242948
Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiencyQ33737998
The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goalsQ34142989
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implicationsQ34201641
Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newbornsQ34272296
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptomsQ34378278
'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.Q34536489
Arguments for early screening: a clinician's perspectiveQ40546757
Vertical sandwich-type continuous/evaporative TLC with fixed mobile phase volume for separating sugars of clinical relevance in paper-borne urine and blood samples in newborn screening.Q43120217
Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolismQ43990199
Screening newborns for inborn errors of metabolism by tandem mass spectrometryQ44467193
Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in GermanyQ44721348
Four years of expanded newborn screening in Portugal with tandem mass spectrometryQ44761087
Worldwide survey of neonatal screening for biotinidase deficiencyQ44932007
The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.Q45238245
Glutaric aciduria type I: outcome following detection by newborn screeningQ46443662
Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.Q46578215
Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.Q46813109
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshopQ47927249
Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the diseaseQ48480653
Projected costs, risks, and benefits of expanded newborn screening for MCADD.Q48894362
Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.Q51819165
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.Q53438013
Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.Q55042915
Continuous thin-layer chromatography of sugars of clinical interest in samples of urine impregnated on paperQ71044419
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screeningQ79400906
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)Q79489164
Expanded newborn screening in Europe 2007Q80647944
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005Q83120524
Inborn errors of metabolism in a neonatology unit: impact and long-term resultsQ84296815
P433issue4
P304page(s)470-475
P577publication date2011-09-22
P1433published inMolecular Genetics and MetabolismQ6895949
P1476titleEvaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme
P478volume104

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cites work (P2860)
Q56590921Acute care utilization for inherited metabolic diseases among children identified through newborn screening in New York state
Q38325924An audit of newborn screening procedure: impact on infants presenting clinically before results are available
Q38817983Appropriateness of newborn screening for classic galactosaemia: a systematic review.
Q87421369Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening
Q44528675Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.
Q57793086Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices
Q45715465Differences between acylcarnitine profiles in plasma and bloodspots
Q48692302Expanded newborn screening in New South Wales: missed cases
Q46152889Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel
Q40282534Glutaric acidemia type 1: outcomes before and after expanded newborn screening
Q64044271Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data
Q91403090Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review
Q92017156Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report
Q37716686Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias
Q39033516Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes
Q26865440Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Q47116026Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia.
Q87813711Spectrum analysis of common inherited metabolic diseases in Chinese patients screened and diagnosed by tandem mass spectrometry
Q64089892Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency
Q64040573Systematic literature review and meta-analysis on the epidemiology of propionic acidemia

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