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

Long-term outcome of expanded newborn screening at Boston children’s hospital: benefits and challenges in defining true disease

(2017) Yuval E. Landau 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

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

(2017) Lorne A. Clarke et al.   JOURNAL OF PEDIATRICS

Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system

(2017) Juana Inés Navarrete-Martínez et al.   MOLECULAR GENETICS AND METABOLISM

Glucosylsphingosine is a key biomarker of Gaucher disease

(2016) Vagishwari Murugesan et al.   AMERICAN JOURNAL OF HEMATOLOGY

Newborn Screening for Lysosomal Storage Disorders:Quo Vadis?

(2016) Roy W.A. Peake et al.   CLINICAL CHEMISTRY

Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry

(2016) Francyne Kubaski et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant

(2016) Malte Lenders et al.   Orphanet Journal of Rare Diseases

Neonatal Screening for Inherited Metabolic Diseases in 2016

(2016) Judit Garcia Villoria et al.   Seminars in Pediatric Neurology

Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI

(2015) A. B. Kumar et al.   CLINICAL CHEMISTRY

Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers

(2015) Emily C. Lisi et al.   Journal of Genetic Counseling

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

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies

(2015) Susana Ferreira et al.   MOLECULAR GENETICS AND METABOLISM

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

(2015) Nouriya A. Al-Sannaa et al.   Orphanet Journal of Rare Diseases

Newborn screening for lysosomal storage disorders

(2015) Dietrich Matern et al.   SEMINARS IN PERINATOLOGY

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

Newborn Screening for Lysosomal Storage Diseases

(2014) M. H. Gelb et al.   CLINICAL CHEMISTRY

50 years of newborn screening

(2014) Georg F. Hoffmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A)

(2013) Hsuan-Chieh Liao et al.   CLINICA CHIMICA ACTA

Decision-making process for conditions nominated to the Recommended Uniform Screening Panel: statement of the US Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children

(2013) Alex R. Kemper et al.   GENETICS IN MEDICINE

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

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

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria

(2012) Thomas P Mechtler et al.   LANCET

Clarifying lysosomal storage diseases

(2011) Mark L. Schultz et al.   TRENDS IN NEUROSCIENCES

Newborn Screening of Lysosomal Storage Disorders

(2010) D. Marsden et al.   CLINICAL CHEMISTRY

Implementation of newborn screening for Krabbe disease: Population study and cutoff determination

(2009) Joseph J. Orsini et al.   CLINICAL BIOCHEMISTRY

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

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