scholarly article | Q13442814 |
P356 | DOI | 10.1016/J.YMGME.2011.09.021 |
P698 | PubMed publication ID | 22000754 |
P50 | author | José M Fraga | Q57686568 |
José Ramón Alonso-Fernández | Q58803416 | ||
María L Couce | Q64175929 | ||
Cristóbal Colón | Q64532843 | ||
P2093 | author name string | Daisy E Castiñeiras | |
José A Cocho | |||
Ma Dolores Bóveda | |||
Ana Baña | |||
Agustín J Iglesias | |||
P2860 | cites work | Newborn screening: toward a uniform screening panel and system--executive summary | Q28242948 |
Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency | Q33737998 | ||
The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals | Q34142989 | ||
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications | Q34201641 | ||
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Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms | Q34378278 | ||
'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. | Q34536489 | ||
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Four years of expanded newborn screening in Portugal with tandem mass spectrometry | Q44761087 | ||
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Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme. | Q46578215 | ||
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Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop | Q47927249 | ||
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3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening | Q79400906 | ||
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P433 | issue | 4 | |
P304 | page(s) | 470-475 | |
P577 | publication date | 2011-09-22 | |
P1433 | published in | Molecular Genetics and Metabolism | Q6895949 |
P1476 | title | Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme | |
P478 | volume | 104 |
Q56590921 | Acute care utilization for inherited metabolic diseases among children identified through newborn screening in New York state |
Q38325924 | An audit of newborn screening procedure: impact on infants presenting clinically before results are available |
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Q87421369 | Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening |
Q44528675 | Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening. |
Q57793086 | Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices |
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Q40282534 | Glutaric acidemia type 1: outcomes before and after expanded newborn screening |
Q64044271 | Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data |
Q91403090 | Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review |
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Q39033516 | Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes |
Q26865440 | Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia |
Q47116026 | Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia. |
Q87813711 | Spectrum analysis of common inherited metabolic diseases in Chinese patients screened and diagnosed by tandem mass spectrometry |
Q64089892 | Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency |
Q64040573 | Systematic literature review and meta-analysis on the epidemiology of propionic acidemia |
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