Maternal Glutaric aciduria type I and newborn screening (original) (raw)
Early Detection of Glutaric Aciduria Type I by Newborn Screening in Taiwan
Yin-hsiu Chien
Journal of the Formosan Medical Association, 2008
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Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families
Wolfgang Sperl
International Journal of Neonatal Screening
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Glutaric aciduria type I: outcome following detection by newborn screening
Veronica Wiley
Journal of Inherited Metabolic Disease, 2008
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Glutaric acidemia type 1: First Saudi patient diagnosed by tandem mass spectrometry-based neonatal screening
Martin Bucknall
Annals of Saudi medicine
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Maternal glutaric acidemia, type I identified by newborn screening
Denise Salazar
Molecular Genetics and Metabolism, 2008
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Four years of expanded newborn screening in Portugal with tandem mass spectrometry
Hugo Rocha
Journal of Inherited Metabolic Disease, 2010
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Postnatal and antenatal laboratory diagnosis of glutaric aciduria II in a South African family
Elardus Erasmus
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1987
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Promising outcomes in glutaric aciduria type I patients detected by newborn screening
Yin-hsiu Chien
Metabolic Brain Disease, 2013
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Glutaric aciduria type II: Biochemical investigation and treatment of a child diagnosed prenatally
Paul Engel
Journal of Inherited Metabolic Disease, 1984
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Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?
Mahesh Kamate
The Indian Journal of Pediatrics, 2019
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Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan
Kwang-jen Hsiao
Journal of the Chinese Medical Association, 2010
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Glutaric Aciduria Type II: Observations in Seven Patients With Neonatal- and Late-Onset Disease
Z. Patay
Journal of Perinatology, 2000
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Neurological manifestations in glutaric acidemia type 1 and the impact of expanded neonatal screening in Brazil
Romina Garcia
Journal of Clinical Images and Medical Case Reports, 2021
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Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme
Andrea Schenone
Journal of inherited metabolic disease, 1998
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Simplified Approach to Glutaric Acidurias: A Mini-Review
Fehime Aksungar
Journal of Rare Diseases Research & Treatment
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A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy
Cristiano Rizzo
International Journal of Environmental Research and Public Health
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Two tier analysis of organic acid disorders: a comprehensive approach for newborn screening
Scholar Science Journals
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Diagnosis and management of glutaric aciduria type I – revised recommendations
Johannes Zschocke
Journal of Inherited Metabolic Disease, 2011
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Metabolic profiling of infant urine using comprehensive two-dimensional gas chromatography: Application to the diagnosis of organic acidurias and biomarker discovery
Konstantinos Kouremenos
Journal of Chromatography A, 2010
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Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980–2020
C. Rockman-Greenberg
Molecular Genetics and Metabolism Reports, 2020
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Development, Validation and Application of Tandem Mass Spectrometry for Screening of Inborn Metabolic Disorders in Kuwaiti Infants
Mohammed Abdelhamid
Medical Principles and Practice, 2007
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Validation of tandem mass spectrometry assay for the direct screening of aminoacidopathies in Egyptians neonates
zeinab Abdallah
2014
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Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia
Angela Valencia
Colombia medica (Cali, Colombia), 2017
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Comparison of Amino Acids and Acylcarnitines Assay Methods Used In Newborn Screening Assays by Tandem Mass Spectrometry
Victor H. De Jesus
Clinica Chimica Acta, 2010
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Direct tandem mass spectrometric analysis of amino acids in dried blood spots without chemical derivatization for neonatal screening
Ferenc Pollreisz
Rapid Communications in Mass Spectrometry, 2003
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Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry
Sharif Akhteruzzaman
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Rapid 2nd-Tier Test for Measurement of 3-OH-Propionic and Methylmalonic Acids on Dried Blood Spots: Reducing the False-Positive Rate for Propionylcarnitine during Expanded Newborn Screening by Liquid Chromatography-Tandem Mass Spectrometry
Elisabetta Pasquini
Clinical Chemistry, 2007
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Glutaric Aciduria Type II With Ketosis in a Male Infant
Henil Upadhyay, Charmy Parikh
Cureus, 2021
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