Last Posted: Jul 22, 2021
- A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease.
Peterson Laiken et al. Journal of genetic counseling 2021
- Ethical Issues in Care and Treatment of Neuronal Ceroid Lipofuscinoses (NCL)-A Personal View.
Kohlschütter Alfried et al. Frontiers in neurology 2021 12692527
- The Future of Newborn Screening for Lysosomal Disorders.
Wasserstein Melissa P et al. Neuroscience letters 2021 136080
- 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)
- 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
- 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)
- 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)
- 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
- 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
- Screening for Krabbe disease: the first two years experience.
Pannuzzo Giovanna et al. Acta neurologica Scandinavica 2019 Jul
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.