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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
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Last data update: May 16, 2024
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Records 1 - 26 (of 26 Records)
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Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements.
Dietrich Matern et al. Int J Neonatal Screen 2024 10(1)
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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
K Jalal et al, IJNS, November 15, 2022
Making Decisions About Krabbe Disease Newborn Screening.
Kurtzberg Joanne et al. Pediatrics 2022 150(2)
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Making Decisions About Krabbe Disease Newborn Screening.
Schrier Vergano Samantha A et al. Pediatrics 2022
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Hospitalization Burden and Incidence of Krabbe Disease.
Ghabash Gabrielle et al. Journal of child neurology 2021 8830738211027717
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Ethical Issues in Care and Treatment of Neuronal Ceroid Lipofuscinoses (NCL)-A Personal View.
Kohlschütter Alfried et al. Frontiers in neurology 2021 12692527
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A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease.
Peterson Laiken et al. Journal of genetic counseling 2021
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The Future of Newborn Screening for Lysosomal Disorders.
Wasserstein Melissa P et al. Neuroscience letters 2021 136080
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Newborn Screening for Krabbe Disease-Illinois Experience: Role of Psychosine in Diagnosis of the Disease.
Basheeruddin Khaja et al. International journal of neonatal screening 2021 7(2)
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Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.
Thompson-Stone Robert et al. Molecular genetics and metabolism 2021
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The Impact of Post-Analytical Tools on New York Screening for Krabbe Disease and Pompe Disease.
Martin Monica M et al. International journal of neonatal screening 2020 Aug 6(3)
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Family Attitudes regarding Newborn Screening for Krabbe Disease: Results from a Survey of Leukodystrophy Registries.
Blackwell Karlita et al. International journal of neonatal screening 2020 Aug 6(3)
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The Lysosomal Diseases Testing Laboratory: A review of the past 47 years.
Wenger David A et al. JIMD reports 2020 Jul 54(1) 61-67
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The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Guenzel Adam J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Feb
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Screening for Krabbe disease: the first two years experience.
Pannuzzo Giovanna et al. Acta neurologica Scandinavica 2019 Jul
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Newborn screening for Krabbe disease: perceived and current ethical issues.
Orsini Joseph J et al. Developmental medicine and child neurology 2019 May
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Ethical issues with testing and treatment for Krabbe disease.
Ehmann Paul et al. Developmental medicine and child neurology 2019 May
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Health utilities and parental quality of life effects for three rare conditions tested in newborns.
Simon Norma-Jean et al. Journal of patient-reported outcomes 2019 Jan 3(1) 4
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Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease.
Langan Thomas J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec
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Minor operations: Genetic testing for children and adolescents presents complex ethical issues
L Beil, Genome Magazine, Apr 2018
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
Kwon Jennifer M et al. Orphanet journal of rare diseases 2018 Feb 13(1) 30
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Precision newborn screening for lysosomal disorders.
Minter Baerg Melissa M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov
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Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.
Wasserstein Melissa P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Dec 18(12) 1235-1243
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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.
Navarrete-Martínez Juana Inés et al. Molecular genetics and metabolism 2017 Mar
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Newborn screening for Krabbe disease in New York State: the first eight years' experience.
Orsini Joseph J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar 18(3) 239-48
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Ethical and Policy Issues in Newborn Screening of Children for Neurologic and Developmental Disorders.
Ross Lainie Friedman et al. Pediatr. Clin. North Am. 2015 Jun 62(3) 787-798
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 16, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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