Metachromatic 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 - 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 - 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 - A Mutation-Agnostic Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy.
Antony Justin S et al. The CRISPR journal 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 - 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 - Metachromatic leukodystrophy
From NCATS Genetic and Rare Diseases Information Center - Metachromatic leukodystrophy due to saposin B deficiency
From NCATS Genetic and Rare Diseases Information Center
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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
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