Newborn screening for Krabbe disease in New York State: the first eight years’ experience

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

Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease

(2015) Coleman T. Turgeon et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Newborn screening for lysosomal storage disorders

(2015) Dietrich Matern et al.   SEMINARS IN PERINATOLOGY

Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease

(2013) Wei-Lien Chuang et al.   CLINICA CHIMICA ACTA

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review

(2012) Rabab Debs et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease

(2012) Alice K Tanner et al.   Orphanet Journal of Rare Diseases

Early Infantile Krabbe Disease: Results of the World-Wide Krabbe Registry

(2012) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY

Later Onset Phenotypes of Krabbe Disease: Results of the World-Wide Registry

(2012) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY

The preparation and storage of dried-blood spot quality control materials for lysosomal storage disease screening tests

(2011) B.W. Adam et al.   CLINICAL BIOCHEMISTRY

Simplified Newborn Screening Protocol for Lysosomal Storage Disorders

(2011) T. F. Metz et al.   CLINICAL CHEMISTRY

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

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

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation

(2010) A Fiumara et al.   CLINICAL GENETICS

Leukodystrophies with late disease onset: an update

(2010) Wolfgang Köhler   CURRENT OPINION IN NEUROLOGY

Weighing the evidence for newborn screening for early-infantile Krabbe disease

(2010) Alex R Kemper et al.   GENETICS IN MEDICINE

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

(2010) Barbara Tappino et al.   HUMAN MUTATION

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

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

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

The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York

(2009) Patricia K Duffner et al.   GENETICS IN MEDICINE

Newborn Screening for Krabbe Disease: the New York State Model

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

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

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

The Hunter's Hope Krabbe Family Database

(2008) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY