Leukodystrophy
What's New
Last Posted: Mar 14, 2024
- Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Teresa H Y Wu et al. Mol Genet Metab 2024 142(1) 108349 - Utility of genetic testing in children with leukodystrophy.
Ayelet Zerem et al. Eur J Paediatr Neurol 2023 4529-35 - Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.
Jonanlis Ramirez Alcantara et al. J Clin Endocrinol Metab 2023 - The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of Ireland.
Morton Georgina et al. Orphanet journal of rare diseases 2022 17(1) 403 - Sex-specific newborn screening for X-Linked adrenoleukodystrophy.
Albersen Monique et al. Journal of inherited metabolic disease 2022 - An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy.
Sevin Caroline et al. Orphanet journal of rare diseases 2022 17(1) 329 - Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
Saleh Maha et al. Case reports in genetics 2022 20229393042 - A Mutation-Agnostic Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy.
Antony Justin S et al. The CRISPR journal 2021 - The Value of Genomic Testing: A Contingent Valuation Across Six Child- and Adult-Onset Genetic Conditions.
Meng Yan et al. PharmacoEconomics 2021 - 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 - 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) - 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 - One Scientist’s Quest to Bring DNA Sequencing to Every Sick Kid
SE Richards, WIRED, August 2019 - One Scientist's Quest to Bring DNA Sequencing to Every Sick Kid
SE Richards, WIRED, August 2019 - The $6 Million Drug Claim- New treatments for rare diseases are changing the lives of patients, but the price can reach millions of dollars for a single person.
K Thomas et al, NY Times, August 25, 2019 - Gene therapy for primary immunodeficiency.
Booth Claire et al. Human molecular genetics 2019 Jul - Screening for Krabbe disease: the first two years experience.
Pannuzzo Giovanna et al. Acta neurologica Scandinavica 2019 Jul - Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.
Garau Jessica et al. Journal of clinical medicine 2019 May 8(5)
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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
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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, 2024
- Page last updated:Apr 29, 2024
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