Last Posted: Feb 25, 2023
- Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype.
Hsu Shao-Lun, et al. Parkinsonism & related disorders 2021 0 7-12
- Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.
Eleonora Bonaventura et al. Frontiers in neurology 2023 131072256
- CLINGEN Actionability Report for Adrenoleukodystrophy - ABCD1
ClinGen Actionability Working Group
- CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy.
Barbier Mathieu, et al. PloS one 2012 0 (1) e29872
From NCATS Genetic and Rare Diseases Information Center
- Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.
Matsukawa Takashi, et al. Neurogenetics 2011 2 (1) 41-50
- [Clinical features and genotype-phenotype studies of 89 Chinese patients with X-linked adrenoleukodystrophy].
Ping Li-li, et al. Zhonghua er ke za zhi. Chinese journal of pediatrics 2007 3 (3) 203-7
About Rare Diseases PHGKB
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.
- Page last reviewed:Feb 1, 2023
- Page last updated:Apr 01, 2023
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