The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

Fabry Disease: prevalence of affected males and heterozygotes with pathogenicGLAmutations identified by screening renal, cardiac and stroke clinics, 1995–2017

(2018) Dana Doheny et al.   JOURNAL OF MEDICAL GENETICS

Precision newborn screening for lysosomal disorders

(2017) Melissa M Minter Baerg et al.   GENETICS IN MEDICINE

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy

(2017) Alberto B. Burlina et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience

(2017) Barbara K. Burton et al.   JOURNAL OF PEDIATRICS

Informed Consent Should Be a Required Element for Newborn Screening, Even for Disorders with High Benefit-Risk Ratios

(2016) Norman Fost   JOURNAL OF LAW MEDICINE & ETHICS

Later Onset Fabry Disease, Cardiac Damage Progress in Silence

(2016) Ting-Rong Hsu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

(2016) Susan Elliott et al.   MOLECULAR GENETICS AND METABOLISM

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

(2015) Jeffrey R. Botkin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease

(2015) Jan Lukas et al.   HUMAN MUTATION

Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in Missouri

(2015) Patrick V. Hopkins et al.   JOURNAL OF PEDIATRICS

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

Postanalytical tools improve performance of newborn screening by tandem mass spectrometry

(2014) Patricia L. Hall et al.   GENETICS IN MEDICINE

Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN

(2014) J. R. Botkin et al.   PEDIATRICS

Technical report: ethical and policy issues in genetic testing and screening of children

(2013) Laine Friedman Ross et al.   GENETICS IN MEDICINE

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

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

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

Enhanced interpretation of newborn screening results without analyte cutoff values

(2012) Gregg Marquardt et al.   GENETICS IN MEDICINE

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

(2011) Raymond Y Wang et al.   GENETICS IN MEDICINE

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

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

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

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

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

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