Inborn errors of metabolism and expanded newborn screening: review and update

RARE INBORN ERRORS OF METABOLISM IN ADULTS: THE LYSOSOMAL STORAGE DISORDERS

(2014) F. Eyskens   ACTA CLINICA BELGICA

Perinatal and early infantile symptoms in congenital disorders of glycosylation

(2013) Simone Funke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Newborn screening of phenylketonuria using direct analysis in real time (DART) mass spectrometry

(2013) Chunyan Wang et al.   ANALYTICAL AND BIOANALYTICAL CHEMISTRY

Newborn screening 50 years later: access issues faced by adults with PKU

(2013) Susan A. Berry et al.   GENETICS IN MEDICINE

Amino Acid and Acylcarnitine Profiles in Premature Neonates: A Pilot Study

(2013) Iman Mandour et al.   INDIAN JOURNAL OF PEDIATRICS

Implications of Newborn Screening for Nurses

(2013) Jane DeLuca et al.   JOURNAL OF NURSING SCHOLARSHIP

Adult-Onset Adrenoleukodystrophy Heralded by Auditory Hallucinations and Delusions

(2013) Yuko Furuhashi et al.   PSYCHOSOMATICS

A rapid UPLC–MS/MS method for simultaneous separation of 48 acylcarnitines in dried blood spots and plasma useful as a second-tier test for expanded newborn screening

(2012) Antonina Gucciardi et al.   ANALYTICAL AND BIOANALYTICAL CHEMISTRY

Direct and quantitative analysis of underivatized acylcarnitines in serum and whole blood using paper spray mass spectrometry

(2012) Qian Yang et al.   ANALYTICAL AND BIOANALYTICAL CHEMISTRY

Dried Blood Spot Analysis by Digital Microfluidics Coupled to Nanoelectrospray Ionization Mass Spectrometry

(2012) Steve C. C. Shih et al.   ANALYTICAL CHEMISTRY

Metabonomics of Newborn Screening Dried Blood Spot Samples: A Novel Approach in the Screening and Diagnostics of Inborn Errors of Metabolism

(2012) Júlia Dénes et al.   ANALYTICAL CHEMISTRY

Ethical Issues with Newborn Screening in the Genomics Era

(2012) Beth A. Tarini et al.   Annual Review of Genomics and Human Genetics

Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and recommendations from the Secretary of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children

(2012) Bradford L. Therrell et al.   GENETICS IN MEDICINE

Enhanced interpretation of newborn screening results without analyte cutoff values

(2012) Gregg Marquardt et al.   GENETICS IN MEDICINE

Genomic Sequencing in Newborn Screening Programs

(2012) Wybo J. Dondorp et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Genomic Sequencing in Newborn Screening Programs

(2012) Siri Atma W. Greeley et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The Ethical Hazards and Programmatic Challenges of Genomic Newborn Screening

(2012) Aaron J. Goldenberg et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The Use of Newborn Screening Dried Blood Spots for Research

(2012) Li-Ming Gong et al.   Journal of Bioethical Inquiry

A quantitative method for acylcarnitines and amino acids using high resolution chromatography and tandem mass spectrometry in newborn screening dried blood spot analysis

(2012) John H. Miller et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Internet use by parents of infants with positive newborn screens

(2012) Jane M. DeLuca et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Neonatal levels of cytokines and risk of autism spectrum disorders: An exploratory register-based historic birth cohort study utilizing the Danish Newborn Screening Biobank

(2012) Morsi W. Abdallah et al.   JOURNAL OF NEUROIMMUNOLOGY

Parents: Critical Stakeholders in Expanding Newborn Screening

(2012) Lainie Friedman Ross et al.   JOURNAL OF PEDIATRICS

Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease

(2012) S. Mercimek-Mahmutoglu et al.   MOLECULAR GENETICS AND METABOLISM

Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program

(2012) Shu-Chuan Chiang et al.   MOLECULAR GENETICS AND METABOLISM

Newborn Screening and the Obstetrician

(2012) Nancy C. Rose et al.   OBSTETRICS AND GYNECOLOGY

Endocrine manifestations related to inherited metabolic diseases in adults

(2012) Marie-Christine Vantyghem et al.   Orphanet Journal of Rare Diseases

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

(2012) Dominique P Germain et al.   Orphanet Journal of Rare Diseases

Frequency of high-quality communication behaviors used by primary care providers of heterozygous infants after newborn screening

(2012) Michael H. Farrell et al.   PATIENT EDUCATION AND COUNSELING

Public Attitudes Regarding the Use of Residual Newborn Screening Specimens for Research

(2012) J. R. Botkin et al.   PEDIATRICS

Comparison of One-Tier and Two-Tier Newborn Screening Metrics for Congenital Adrenal Hyperplasia

(2012) K. Sarafoglou et al.   PEDIATRICS

Retention and Research Use of Residual Newborn Screening Bloodspots

(2012) J. R. Botkin et al.   PEDIATRICS

Psychological Effects of False-Positive Results in Expanded Newborn Screening in China

(2012) Wen-Jun Tu et al.   PLoS One

Parental attitudes on expanded newborn screening in Hong Kong

(2012) C.M. Mak et al.   PUBLIC HEALTH

Extraction and analysis of carnitine and acylcarnitines by electrospray ionization tandem mass spectrometry directly from dried blood and plasma spots using a novel autosampler

(2012) J. Will Thompson et al.   RAPID COMMUNICATIONS IN MASS SPECTROMETRY

Perils of Newborn Screening

(2012) Ariel Bleicher   SCIENTIFIC AMERICAN

Universal Newborn Screening

(2012) Laurie Dunn et al.   SOUTHERN MEDICAL JOURNAL

Analysis of Acid Sphingomyelinase Activity in Dried Blood Spots Using Tandem Mass Spectrometry

(2012) Elisa Legnini et al.   Annals of Laboratory Medicine

Concerns of Newborn Blood Screening Advisory Committee Members Regarding Storage and Use of Residual Newborn Screening Blood Spots

(2011) Erin W. Rothwell et al.   AMERICAN JOURNAL OF PUBLIC HEALTH

Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening

(2011) Lisa A. Schimmenti et al.   GENETICS IN MEDICINE

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

(2011) David M S McHugh et al.   GENETICS IN MEDICINE

Primary hyperoxaluria in an adult presenting with end-stage renal failure together with hypercalcemia and hypothyroidism

(2011) Serhat KARADAG et al.   Hemodialysis International

Young-Onset Parkinsonism in a Hong Kong Chinese Man With Adult-Onset Hallervorden–Spatz Syndrome

(2011) Chloe Miu Mak et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Postnatal variations in blood free and acylcarnitines

(2011) Tanima De et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14years of newborn screening

(2011) Mei W. Baker et al.   Journal of Cystic Fibrosis

Newborn screening for lysosomal storage diseases: an ethical and policy analysis

(2011) Lainie Friedman Ross   JOURNAL OF INHERITED METABOLIC DISEASE

Putting a value on the avoidance of false positive results when screening for inherited metabolic disease in the newborn

(2011) Simon Dixon et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening

(2011) Yin-Hsiu Chien et al.   JOURNAL OF PEDIATRICS

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

(2011) Ma Luz Couce et al.   MOLECULAR GENETICS AND METABOLISM

Mucopolysaccharidosis Type VI (Maroteaux–Lamy syndrome) with a predominantly cardiac phenotype

(2011) Agnieszka Jurecka et al.   MOLECULAR GENETICS AND METABOLISM

Adult Leigh Disease Without Failure to Thrive

(2011) Ken Sakushima et al.   NEUROLOGIST

Committee Opinion No. 481: Newborn Screening

(2011)   OBSTETRICS AND GYNECOLOGY

Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

(2011) Martin Lindner et al.   Orphanet Journal of Rare Diseases

Congenital adrenal hyperplasia in adults

(2011) Richard J Auchus   Current Opinion in Endocrinology Diabetes and Obesity

Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008

(2010) Hissa Moammar et al.   ANNALS OF SAUDI MEDICINE

Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry

(2010) Víctor R. De Jesús et al.   CLINICA CHIMICA ACTA

Newborn Screening of Lysosomal Storage Disorders

(2010) D. Marsden et al.   CLINICAL CHEMISTRY

Impact of Second-Tier Testing on the Effectiveness of Newborn Screening

(2010) D. H. Chace et al.   CLINICAL CHEMISTRY

Neonatal screening for amino acidaemias in Karnataka, South India

(2010) N. Appaji Rao et al.   CLINICAL GENETICS

Analysis of Educational Materials and Destruction/Opt-Out Initiatives for Storage and Use of Residual Newborn Screening Samples

(2010) Susanne B. Haga   Genetic Testing and Molecular Biomarkers

Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects

(2010) Ayman W El-Hattab et al.   GENETICS IN MEDICINE

Newborn dried bloodspot screening: Long-term follow-up activities and information system requirements

(2010) Rani H. Singh et al.   GENETICS IN MEDICINE

Newborn screening strategies for congenital hypothyroidism: an update

(2010) Stephen H. LaFranchi   JOURNAL OF INHERITED METABOLIC DISEASE

Newborn screening for neuropathic lysosomal storage disorders

(2010) Wuh-Liang Hwu et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria

(2010) Yosuke Shigematsu et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan

(2010) Dau-Ming Niu et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency

(2010) Anne Marie Comeau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The profile of newborn screening coverage in China

(2010) Y Cao et al.   JOURNAL OF MEDICAL SCREENING

Two-Tier Approach to the Newborn Screening of Methylenetetrahydrofolate Reductase Deficiency and Other Remethylation Disorders with Tandem Mass Spectrometry

(2010) Silvia Tortorelli et al.   JOURNAL OF PEDIATRICS

Maternal and Neonatal Vitamin B12 Deficiency Detected through Expanded Newborn Screening—United States, 2003–2007

(2010) Cynthia F. Hinton et al.   JOURNAL OF PEDIATRICS

Projected Costs, Risks, and Benefits of Expanded Newborn Screening for MCADD

(2010) L. A. Prosser et al.   PEDIATRICS

Systematic Evidence Review of Newborn Screening and Treatment of Severe Combined Immunodeficiency

(2010) E. A. Lipstein et al.   PEDIATRICS

The application of multiplexed, multi-dimensional ultra-high-performance liquid chromatography/tandem mass spectrometry to the high-throughput screening of lysosomal storage disorders in newborn dried bloodspots

(2010) David C. Kasper et al.   RAPID COMMUNICATIONS IN MASS SPECTROMETRY

Fatal Hyperammonemia After Renal Transplant due to Late-Onset Urea Cycle Deficiency: A Case Report

(2010) D. Bezinover et al.   TRANSPLANTATION PROCEEDINGS

Stability of Acylcarnitines and Free Carnitine in Dried Blood Samples: Implications for Retrospective Diagnosis of Inborn Errors of Metabolism and Neonatal Screening for Carnitine Transporter Deficiency

(2009) Ralph Fingerhut et al.   ANALYTICAL CHEMISTRY

High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

(2009) Hsiang-Yu Lin et al.   Circulation-Cardiovascular Genetics

Screening for inborn errors of metabolism using automated electrospray tandem mass spectrometry: Study in high-risk Indian population

(2009) Dindagur Nagaraja et al.   CLINICAL BIOCHEMISTRY

Understanding sickle cell carrier status identified through newborn screening: a qualitative study

(2009) Fiona A Miller et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment

(2009) Ana Morales et al.   GENETICS IN MEDICINE

Expanded newborn screening in Texas: a survey and educational module addressing the knowledge of pediatric residents

(2009) Amy Stanford Wells et al.   GENETICS IN MEDICINE

Agency Discretion and Public Health Service Delivery

(2009) Pamela J. Clouser McCann   HEALTH SERVICES RESEARCH

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onsetGLAmutation c.936+919G>A (IVS4+919G>A)

(2009) Wuh-Liang Hwu et al.   HUMAN MUTATION

Development of a routine newborn screening protocol for severe combined immunodeficiency

(2009) Mei W. Baker et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Utilization of Blood Spot Testing for Metabolic-Genetic Disorders in Honduras: Is it Time for Newborn Screening?

(2009) Jonathan L. Slaughter et al.   JOURNAL OF CHILD NEUROLOGY

Pilot study for utilization of dried blood spots for screening of lead, mercury and cadmium in newborns

(2009) Sanwat N Chaudhuri et al.   Journal of Exposure Science and Environmental Epidemiology

Visual Hallucinations in a Patient with Adult Onset Acid Maltase Deficiency Disorder

(2009) Ritesh Patil et al.   JOURNAL OF GENERAL INTERNAL MEDICINE

Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins’ diet

(2009) Ziv Ben-Ari et al.   JOURNAL OF HEPATOLOGY

Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study

(2009) J. H. Walter et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Asymptomatic Maternal Combined Homocystinuria and Methylmalonic Aciduria (cblC) Detected through Low Carnitine Levels on Newborn Screening

(2009) Henry J. Lin et al.   JOURNAL OF PEDIATRICS

Mutational analysis for Wilson's disease

(2009) Wai Kay Seto et al.   LANCET

Use of Steroid Profiling by UPLC-MS/MS as a Second Tier Test in Newborn Screening for Congenital Adrenal Hyperplasia: The Utah Experience

(2009) Elisabeth Schwarz et al.   PEDIATRIC RESEARCH

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

(2009) B. Wilcken et al.   PEDIATRICS

China: Public Health Genomics

(2009) S. Zheng et al.   Public Health Genomics

Consent for Newborn Screening: The Attitudes of Health Care Providers

(2009) F.A. Miller et al.   Public Health Genomics

NEWBORN BLOOD COLLECTIONS: Science Gold Mine, Ethical Minefield

(2009) J. Couzin-Frankel   SCIENCE

Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis−Electrospray Ionization-Mass Spectrometry: A Second-Tier Method with Improved Specificity and Sensitivity

(2008) Kenneth R. Chalcraft et al.   ANALYTICAL CHEMISTRY

Expanded Newborn Screening: Implications for Genomic Medicine

(2008) Linda L. McCabe et al.   Annual Review of Medicine

Young-Onset Dementia

(2008) Brendan J. Kelley et al.   ARCHIVES OF NEUROLOGY

Parental Tolerance of False-positive Newborn Screening Results

(2008) Lisa A. Prosser et al.   ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE

Second-Tier Test for Quantification of Alloisoleucine and Branched-Chain Amino Acids in Dried Blood Spots to Improve Newborn Screening for Maple Syrup Urine Disease (MSUD)

(2008) D. Oglesbee et al.   CLINICAL CHEMISTRY

Recall rate and positive predictive value of MSUD screening is not influenced by hydroxyproline

(2008) Ralph Fingerhut   EUROPEAN JOURNAL OF PEDIATRICS

Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male

(2008) Ophir D. Klein et al.   Hepatology International

Classical Forms of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Adults

(2008) Anne Bachelot et al.   Hormone Research in Paediatrics

Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests

(2008) G. la Marca et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Leukoencephalopathies associated with inborn errors of metabolism in adults

(2008) F. Sedel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Two-year pilot study of newborn screening for congenital adrenal hyperlasia in New South Wales compared with nationwide case surveillance in Australia

(2008) Helena K Gleeson et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

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

(2008) S.E. Waisbren et al.   MOLECULAR GENETICS AND METABOLISM

Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening

(2008) Reena Jethva et al.   MOLECULAR GENETICS AND METABOLISM

Newborn screening for glutaric aciduria type I in Victoria: Treatment and outcome

(2008) Avihu Boneh et al.   MOLECULAR GENETICS AND METABOLISM

Leigh and Leigh-Like Syndrome in Children and Adults

(2008) Josef Finsterer   PEDIATRIC NEUROLOGY

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

(2008) Y.-H. Chien et al.   PEDIATRICS

The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs

(2008) Giancarlo la Marca et al.   RAPID COMMUNICATIONS IN MASS SPECTROMETRY

Distribution of etiologies in patients above and below age 45 with first-ever ischemic stroke

(2007) G. Telman et al.   ACTA NEUROLOGICA SCANDINAVICA

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency

(2007) Georgianne L. Arnold et al.   MOLECULAR GENETICS AND METABOLISM