Skip directly to search
Skip directly to A to Z list
Skip directly to navigation
Skip directly to page options
Skip directly to site content
Start of Search Controls
Search Form Controls
Search The CDC
submit
CDC A-Z Index
MENU
CDC A-Z
SEARCH
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
#
Search Form Controls
Search The CDC
submit
CDC A-Z Index
Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
About
Public Health Genomics Branch
PHGKB Weekly Horizon Scan
Genomics Precision Health Scan
Advanced Molecular Detection Clips
Non-Genomics Precision Health Scan
CDC-authored Publications Scan
Specialized PHGKB
Cancer PHGKB
Diabetes PHGKB
Economic Evaluation PHGKB
Environmental Health PHGKB
Family Health History PHGKB
Health Equity PHGKB
HLBS-PopOmics
Infectious Diseases PHGKB
Implementation Science PHGKB
Neurological Disorders PHGKB
Pharmacogenomics PHGKB
Primary Immune Deficiency Diseases PHGKB
Rare Diseases PHGKB
Reproductive and Child Health PHGKB
All Databases
COVID-19 GPH (47493)
CDC/NIH Web Information Database (32185)
CDC-Authored Genomics and Precision Health Publications Database (5888)
Precision Health Database (63682)
Tier-Classified Guidelines Database (534)
Pathogen Advanced Molecular Detection Database (26775)
All of Us Reports and Publications Database (675)
Human Genome Epidemiology
Human Genome Epidemiology Literature Finder (226596)
Epigenetic Epidemiology Publications Database (22799)
Release Note
Contact Us
Precision Health Database
Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Apr 30, 2024
. (Total: 63682 Documents since 2012)
All
Cancer
Diabetes
Economic
Equity
Environmental
FHH
HLBS
ID
Implementation
ND
PGx
PI
Rare
RCH
dataset
All
GPH
Non-GPH
Filtered By
:
Select to fine-tune your search
Disease
Gene
Product Type
Category
Year
Previous
Records 1 - 24 (of 24 Records)
Query Trace:
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
Similar articles in PubMed
Utility of genetic testing in children with leukodystrophy.
Ayelet Zerem et al. Eur J Paediatr Neurol 2023 4529-35
Similar articles in PubMed
Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.
Jonanlis Ramirez Alcantara et al. J Clin Endocrinol Metab 2023
Similar articles in PubMed
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
Similar articles in PubMed
Sex-specific newborn screening for X-Linked adrenoleukodystrophy.
Albersen Monique et al. Journal of inherited metabolic disease 2022
Similar articles in PubMed
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
Similar articles in PubMed
Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
Saleh Maha et al. Case reports in genetics 2022 20229393042
Similar articles in PubMed
A Mutation-Agnostic Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy.
Antony Justin S et al. The CRISPR journal 2021
Similar articles in PubMed
The Value of Genomic Testing: A Contingent Valuation Across Six Child- and Adult-Onset Genetic Conditions.
Meng Yan et al. PharmacoEconomics 2021
Similar articles in PubMed
Recent Advancements in the Diagnosis and Treatment of Leukodystrophies.
Bradbury Allison M et al. Seminars in pediatric neurology 2021 37100876
Similar articles in PubMed
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
Similar articles in PubMed
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)
Similar articles in PubMed
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
Similar articles in PubMed
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
Similar articles in PubMed
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
Similar articles in PubMed
Screening for Krabbe disease: the first two years experience.
Pannuzzo Giovanna et al. Acta neurologica Scandinavica 2019 Jul
Similar articles in PubMed
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)
Similar articles in PubMed
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.
Ganapathy Aparna et al. Journal of neurology 2019 May
Similar articles in PubMed
Newborn screening for Cerebrotendinous Xanthomatosis is the Solution for Early Identification and Treatment.
DeBarber Andrea E et al. Journal of lipid research 2018 Aug
Similar articles in PubMed
This little boy has a disease with no cure. His family is determined to fight back.
CJ Moss, Washington Post, March 17, 2018
Whole exome sequencing in patients with white matter abnormalities.
Vanderver Adeline et al. Annals of neurology 2016 Jun 79(6) 1031-7
Similar articles in PubMed
Targeted leukodystrophy diagnosis based on charges and yields for testing.
Richards Jackson et al. American journal of medical genetics. Part A 2015 Nov 167A(11) 2541-3
Similar articles in PubMed
File Formats Help:
How do I view different file formats (PDF, DOC, PPT, MPEG) on this site?
Adobe PDF file
Microsoft PowerPoint file
Microsoft Word file
Microsoft Excel file
Audio/Video file
Apple Quicktime file
RealPlayer file
Text file
Zip Archive file
SAS file
ePub file
Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 30, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
,
National Center on Birth Defects and Developmental Disabilities
TOP