Last Posted: Sep 20, 2021
- Evaluating the role of ARSA in Chinese patients with Parkinson's disease.
Pan Hong-Xu, et al. Neurobiology of aging 2021 8
- Recent Advancements in the Diagnosis and Treatment of Leukodystrophies.
Bradbury Allison M et al. Seminars in pediatric neurology 2021 37100876
- Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening.
Ruiz-Schultz Nicole et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jan
- Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity.
Mahdieh Nejat, et al. Clinical neurology and neurosurgery 2020 12 106448
- Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots.
Hong Xinying et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Nov
- 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
- Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy.
Han Minje, et al. Annals of laboratory medicine 2015 7 (4) 458-62
- Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.
Virgens M Y F, et al. Gene 2015 8 (1) 69-75
- Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy.
?ugowska Agnieszka, et al. Gene 2013 9 (2) 176-81
- Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?
Lugowska A, et al. PloS one 2011 6 (6) 6
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.