Newborn screening for Krabbe's disease

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

(2016) Joseph J. Orsini et al.   GENETICS IN MEDICINE

Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State

(2016) Melissa P. Wasserstein et al.   GENETICS IN MEDICINE

Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease

(2016) Carlos A. Saavedra-Matiz et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry

(2015) F. Ghomashchi et al.   CLINICAL CHEMISTRY

Continuous Age- and Sex-Adjusted Reference Intervals of Urinary Markers for Cerebral Creatine Deficiency Syndromes: A Novel Approach to the Definition of Reference Intervals

(2015) L. Morkrid et al.   CLINICAL CHEMISTRY

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

Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice

(2015) Mohammad A Rafi et al.   MOLECULAR THERAPY

Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease

(2015) A. Gupta et al.   NeuroImage-Clinical

Design of a regulated lentiviral vector for hematopoietic stem cell gene therapy of globoid cell leukodystrophy

(2015) Silvia Ungari et al.   Molecular Therapy-Methods & Clinical Development

Postanalytical tools improve performance of newborn screening by tandem mass spectrometry

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

Experimental Therapies in the Murine Model of Globoid Cell Leukodystrophy

(2014) Yedda Li et al.   PEDIATRIC NEUROLOGY

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

High-Throughput Assay of 9 Lysosomal Enzymes for Newborn Screening

(2013) Z. Spacil et al.   CLINICAL CHEMISTRY

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

Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?

(2013) David A. Wenger et al.   MOLECULAR GENETICS AND METABOLISM

Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases

(2012) Amy L. Barczykowski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Developmental and Functional Outcomes in Children with a Positive Newborn Screen for Krabbe Disease: A Pilot Study of a Phone-Based Interview Surveillance Technique

(2012) Patricia K. Duffner et al.   JOURNAL OF PEDIATRICS

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

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

Simplified Newborn Screening Protocol for Lysosomal Storage Disorders

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

Semi-quantitative method for determination of hematocrit in dried blood spots, using data collected in HPLC hemoglobin variant testing

(2010) Joseph J. Orsini et al.   CLINICA CHIMICA ACTA

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

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

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

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

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