Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions

(2021) Ken Kok et al.   Biomolecules

Opinions of adults affected with later‐onset lysosomal storage diseases regarding newborn screening: A qualitative study

(2021) Emily C. Lisi et al.   Journal of Genetic Counseling

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

(2021) Dominique P. Germain et al.   Molecular Genetics & Genomic Medicine

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns

(2020) Yin-Hsiu Chien et al.   Orphanet Journal of Rare Diseases

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup

(2020) Dominique P Germain et al.   JOURNAL OF MEDICAL GENETICS

Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort

(2020) Grigoris Effraimidis et al.   JOURNAL OF MEDICAL GENETICS

Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study

(2019) Giulia Polo et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

(2019) Dominique P. Germain et al.   CLINICAL GENETICS

Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil

(2018) Eurico Camargo Neto et al.   GENETICS AND MOLECULAR BIOLOGY

Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan

(2018) Hsuan-Chieh Liao et al.   MOLECULAR GENETICS AND METABOLISM

Fabry disease revisited: Management and treatment recommendations for adult patients

(2018) Alberto Ortiz et al.   MOLECULAR GENETICS AND METABOLISM

Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation

(2018) L. Lavalle et al.   PLoS One

Fabry disease: Review and experience during newborn screening

(2018) Ting-Rong Hsu et al.   TRENDS IN CARDIOVASCULAR MEDICINE

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study

(2018) Dominique P. Germain et al.   Molecular Genetics & Genomic Medicine

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

(2018) Melissa P. Wasserstein et al.   GENETICS IN MEDICINE

The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease – A systematic literature review by a European panel of experts

(2018) Dominique P. Germain et al.   MOLECULAR GENETICS AND METABOLISM

High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease

(2018) Serhat Koca et al.   GENE

Clinical utility gene card for: Fabry disease – update 2016

(2017) Andreas Gal et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Newborn screening for Fabry disease in the north-west of Spain

(2017) Cristobal Colon et al.   EUROPEAN JOURNAL OF PEDIATRICS

Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry

(2017) Yung-Hsiu Lu et al.   JOURNAL OF HUMAN GENETICS

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

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

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

X-chromosome inactivation in female patients with Fabry disease

(2015) L. Echevarria et al.   CLINICAL GENETICS

Enzymatic diagnosis of Fabry disease using a fluorometric assay on dried blood spots: An alternative methodology

(2015) Eric Caudron et al.   European Journal of Medical Genetics

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

(2015) Dominique P Germain et al.   JOURNAL OF MEDICAL GENETICS

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

High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry

(2014) Sheng-Hung Lee et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots

(2013) Britt Johnson et al.   Annals of Laboratory Medicine

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

Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young

(2012) Isabel De Brabander et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

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

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

(2012) Thomas P Mechtler et al.   LANCET

A Pilot Newborn Screening Program for Lysosomal Storage Disorders (LSD) in Illinois

(2012) Barbara Burton et al.   MOLECULAR GENETICS AND METABOLISM

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(2012) Yin-Hsiu Chien et al.   MOLECULAR MEDICINE

The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots

(2011) Chang-Long Tai et al.   CLINICA CHIMICA ACTA

Whole-blood alpha-D-galactosidase A activity for the identification of Fabry's patients

(2011) Luca Massaccesi et al.   CLINICAL BIOCHEMISTRY

Digital Microfluidic Platform for Multiplexing Enzyme Assays: Implications for Lysosomal Storage Disease Screening in Newborns

(2011) R. S. Sista et al.   CLINICAL CHEMISTRY

Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease Survey

(2011) P. Elliott et al.   HEART

Quantification of the Fabry marker lysoGb3 in human plasma by tandem mass spectrometry

(2011) Ralf Krüger et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease

(2010) S.M. Rombach et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Fabry disease

(2010) Dominique P Germain   Orphanet Journal of Rare Diseases

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

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

Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations

(2009) B. Oqvist et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

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

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

(2008) J. M. Aerts et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA