Expanded newborn screening by mass spectrometry: New tests, future perspectives

Improved Reagents for Newborn Screening of Mucopolysaccharidosis Types I, II, and VI by Tandem Mass Spectrometry

(2014) Naveen Kumar Chennamaneni et al.   ANALYTICAL CHEMISTRY

Population screening for Wilson's disease

(2014) Si Houn Hahn   Annals of the New York Academy of Sciences

Detecting multiple lysosomal storage diseases by tandem mass spectrometry — A national newborn screening program in Taiwan

(2014) Hsuan-Chieh Liao et al.   CLINICA CHIMICA ACTA

Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots

(2014) Giancarlo la Marca et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The Case for Mandatory Newborn Screening for Severe Combined Immunodeficiency (SCID)

(2014) H. B. Gaspar et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Mass spectrometry in clinical chemistry: the case of newborn screening

(2014) Giancarlo la Marca   JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS

Compound heterozygotes and beta-thalassemia: Top-down mass spectrometry for detection of hemoglobinopathies

(2014) Rebecca L. Edwards et al.   PROTEOMICS

Quantification of sulfatides in dried blood and urine spots from metachromatic leukodystrophy patients by liquid chromatography/electrospray tandem mass spectrometry

(2013) Mariana Barcenas et al.   CLINICA CHIMICA ACTA

High-Throughput Assay of 9 Lysosomal Enzymes for Newborn Screening

(2013) Z. Spacil et al.   CLINICAL CHEMISTRY

Newborn screening for lysosomal storage disorders and other neuronopathic conditions

(2013) Dietrich Matern et al.   Developmental Disabilities Research Reviews

Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency

(2013) Raz Somech et al.   IMMUNOLOGIC RESEARCH

Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study

(2013) Takahito Inoue et al.   JOURNAL OF HUMAN GENETICS

Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency

(2013) Marzia Pasquali et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry

(2013) C. Ronald Scott et al.   JOURNAL OF PEDIATRICS

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency

(2013) Areeg H. El-Gharbawy et al.   MOLECULAR GENETICS AND METABOLISM

Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible

(2013) Christiane Theda et al.   MOLECULAR GENETICS AND METABOLISM

Early initiation of enzyme replacement therapy for the mucopolysaccharidoses

(2013) Joseph Muenzer   MOLECULAR GENETICS AND METABOLISM

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

(2013) A. Biffi et al.   SCIENCE

X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects

(2012) Stephan Kemp et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

First pilot newborn screening for four lysosomal storage diseases in an Italian region: Identification and analysis of a putative causative mutation in the GBA gene

(2012) Silvia Paciotti et al.   CLINICA CHIMICA ACTA

Improved analysis of C26:0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS/MS for X-linked adrenoleukodystrophy newborn screening

(2012) Christopher A. Haynes et al.   CLINICA CHIMICA ACTA

Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disorders

(2012) Joseph J. Orsini et al.   CLINICA CHIMICA ACTA

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency

(2012) Giancarlo la Marca et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening

(2012) Thomas P. Mechtler et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

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

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

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

(2012) K. Sarafoglou et al.   PEDIATRICS

Lysosomal Disorders Associated with Leukoencephalopathy

(2012) Deborah Renaud   SEMINARS IN NEUROLOGY

Comparative Triplex Tandem Mass Spectrometry Assays of Lysosomal Enzyme Activities in Dried Blood Spots Using Fast Liquid Chromatography: Application to Newborn Screening of Pompe, Fabry, and Hurler Diseases

(2011) Zdeněk Spáčil et al.   ANALYTICAL CHEMISTRY

Newborn screening for SCID: three years of experience

(2011) Nicole M. Chase et al.   Annals of the New York Academy of Sciences

Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: A reliable and inexpensive method using tandem mass spectrometry

(2011) Chiara Azzari et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots

(2011) Dae-Hyun Ko et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID)

(2011) Kee Chan et al.   MOLECULAR GENETICS AND METABOLISM

Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy

(2011) Yana Sandlers et al.   MOLECULAR GENETICS AND METABOLISM

Long-Term Persistence of a Polyclonal T Cell Repertoire After Gene Therapy for X-Linked Severe Combined Immunodeficiency

(2011) H. B. Gaspar et al.   Science Translational Medicine

Hematopoietic Stem Cell Gene Therapy for Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Leads to Long-Term Immunological Recovery and Metabolic Correction

(2011) H. B. Gaspar et al.   Science Translational Medicine

Stem-cell transplantation in children and adults with sickle cell disease: an update

(2011) Ruby Khoury et al.   Expert Review of Hematology

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

(2010) Trisha A. Duffey et al.   ANALYTICAL CHEMISTRY

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis II (Hunter Syndrome)

(2010) Brian J. Wolfe et al.   ANALYTICAL CHEMISTRY

Design and synthesis of substrates for newborn screening of Maroteaux–Lamy and Morquio A syndromes

(2010) Trisha A. Duffey et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

General Aspects and Neuropathology of X-Linked Adrenoleukodystrophy

(2010) Isidro Ferrer et al.   BRAIN PATHOLOGY

Clinical Immunology Review Series: An approach to the patient with recurrent infections in childhood

(2010) M. A. Slatter et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

A Tandem Mass Spectrometry Triplex Assay for the Detection of Fabry, Pompe, and Mucopolysaccharidosis-I (Hurler)

(2010) T. A. Duffey et al.   CLINICAL CHEMISTRY

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

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

Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry

(2010) C. T. Turgeon et al.   CLINICAL CHEMISTRY

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots:Application to Screening Newborns for Mucopolysaccharidosis IVA

(2010) T. Khaliq et al.   CLINICAL CHEMISTRY

Identification of an infant with severe combined immunodeficiency by newborn screening

(2010) Jaime E. Hale et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia

(2010) Deborah Accetta et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC–MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis

(2010) Sabrina Forni et al.   MOLECULAR GENETICS AND METABOLISM

Efficacy of Gene Therapy for X-Linked Severe Combined Immunodeficiency

(2010) Salima Hacein-Bey-Abina et al.   NEW ENGLAND JOURNAL OF MEDICINE

Beta-thalassemia

(2010) Renzo Galanello et al.   Orphanet Journal of Rare Diseases

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

New Strategy for the Screening of Lysosomal Storage Disorders: The Use of the Online Trapping-and-Cleanup Liquid Chromatography/Mass Spectrometry

(2009) Giancarlo la Marca et al.   ANALYTICAL CHEMISTRY

Wilson disease: Current status and the future☆

(2009) Michael L. Schilsky   BIOCHIMIE

How I treat ADA deficiency

(2009) H. B. Gaspar et al.   BLOOD

Guanidinoacetate methyltransferase deficiency (GAMT)

(2009) Neil Gordon   BRAIN & DEVELOPMENT

A novel mutation in purine nucleoside phosphorylase in a child with normal uric acid levels

(2009) B. Al-Saud et al.   CLINICAL BIOCHEMISTRY

New insights into the pathogenesis of adenosine deaminase-severe combined immunodeficiency and progress in gene therapy

(2009) Aisha V Sauer et al.   Current Opinion in Allergy and Clinical Immunology

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

Statewide Newborn Screening for Severe T-Cell Lymphopenia

(2009) John M. Routes   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method

(2009) Walter C. Hubbard et al.   MOLECULAR GENETICS AND METABOLISM

Gene Therapy for Immunodeficiency Due to Adenosine Deaminase Deficiency

(2009) Alessandro Aiuti et al.   NEW ENGLAND JOURNAL OF MEDICINE

Newborn Screening for Krabbe Disease: the New York State Model

(2009) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY

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

Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment

(2009) Y.-H. Chien et al.   PEDIATRICS

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

Newborn Screening for Sickle Cell Disease Using Tandem Mass Spectrometry

(2008) F. Boemer et al.   CLINICAL CHEMISTRY

Development and Evaluation of Quality Control Dried Blood Spot Materials in Newborn Screening for Lysosomal Storage Disorders

(2008) V. R. De Jesus et al.   CLINICAL CHEMISTRY

Tryptic Peptide Analysis of Ceruloplasmin in Dried Blood Spots Using Liquid Chromatography-Tandem Mass Spectrometry: Application to Newborn Screening

(2008) A. deWilde et al.   CLINICAL CHEMISTRY

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I

(2008) S. Blanchard et al.   CLINICAL CHEMISTRY

Multiplex Enzyme Assay Screening of Dried Blood Spots for Lysosomal Storage Disorders by Using Tandem Mass Spectrometry

(2008) X. K. Zhang et al.   CLINICAL CHEMISTRY

Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots

(2008) C. Turgeon et al.   CLINICAL CHEMISTRY

Stem Cell Engineering for the Treatment of Severe Hemoglobinopathies

(2008) Michel Sadelain et al.   CURRENT MOLECULAR MEDICINE

A Case of 11β-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS

(2008) M. Peter et al.   Hormone Research in Paediatrics

Histone deacetylase inhibitors and hemoglobin F induction in β-thalassemia

(2008) Anna Rita Migliaccio et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

High Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs

(2008) Zappu Antonietta et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

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