Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically?-Reference-Cited by-同舟云学术

Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically?

Published:2016-09-17 Issue:11 Volume:94 Page:1084-1093
ISSN:0360-4012
Container-title:Journal of Neuroscience Research
language:en
Short-container-title:Journal of Neuroscience Research

Author:

Carter Randy L.¹²,Wrabetz Lawrence²³,Jalal Kabir¹²,Orsini Joseph J.⁴,Barczykowski Amy L.¹²,Matern Dietrich⁵,Langan Thomas J.²³

Affiliation:

1. Department of Biostatistics, Population Health Observatory, School of Public Health and Health Professions; University at Buffalo; Buffalo New York

2. Hunter James Kelly Research Institute, School of Medicine and Biomedical Sciences; University at Buffalo; Buffalo New York

3. Department of Neurology, School of Medicine and Biomedical Sciences; University at Buffalo; Buffalo New York

4. Newborn Screening Program, Wadsworth Center, New York State Department of Health; Albany New York

5. Biochemical Genetics Laboratory, Mayo Clinic College of Medicine; Rochester Minnesota

Funder

Hunter's Hope Foundation

Empire State Development Corporation for the Research Foundation-Krabbe's Disease Research Working Capital

National Institute of Child Health and Human Development

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience

Reference31 articles.

1. Patterns of magnetic resonance abnormalities in symptomatic patients with Krabbe disease correspond to phenotype;Abdelhalim;Pediatr Neurol,2014

2. Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases;AL;Am J Med Genet A,2012

3. Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease;Chuang;Clin Chim Acta,2013

4. Should states adopt newborn screening for early infantile Krabbe disease?;Dimmock;Genet Med,2016

5. The Hunter's Hope Krabbe family database;Duffner;Pediatr Neurol,2009a

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1. A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease;International Journal of Neonatal Screening;2022-11-15

2. Hospitalization Burden and Incidence of Krabbe Disease;Journal of Child Neurology;2021-10-20

3. Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried blood spots to predict symptoms;JIMD Reports;2020-02-10

4. Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease;Genetics in Medicine;2019-07

5. KRABBE LEUCODYSTROPHY (WITH A DESCRIPTION OF THE CLINICAL CASE);Russian Pediatric Journal;2019-04-30