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 (47449)
CDC/NIH Web Information Database (32181)
CDC-Authored Genomics and Precision Health Publications Database (5878)
Precision Health Database (63675)
Tier-Classified Guidelines Database (534)
Pathogen Advanced Molecular Detection Database (26775)
All of Us Reports and Publications Database (676)
Human Genome Epidemiology
Human Genome Epidemiology Literature Finder (226522)
Epigenetic Epidemiology Publications Database (22789)
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 25, 2024
. (Total: 63675 Documents since 2012)
All
Cancer
Diabetes
Economic
Environmental
Equity
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 - 30 (of 71 Records)
Next
Query Trace:
Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018.
Sikha Singh et al. Int J Neonatal Screen 9(2)
Similar articles in PubMed
Individual Treatment Trials-Do Experts Know and Use This Option to Improve the Treatability of Mucopolysaccharidosis?
Anna-Maria Wiesinger et al. Pharmaceuticals (Basel, Switzerland) 2023 16(3)
Similar articles in PubMed
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
Kim Man Jin et al. Annals of laboratory medicine 2022 43(3) 280-289
Similar articles in PubMed
Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States.
Ream Margie A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Similar articles in PubMed
Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study.
Eskes Eline C B et al. Orphanet journal of rare diseases 2022 17(1) 383
Similar articles in PubMed
Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade-long experience.
Ellinwood N Matthew et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
Similar articles in PubMed
Editorial: Cardiac issues in adults with mucopolysaccharidosis.
Stepien Karolina M et al. Frontiers in cardiovascular medicine 2022 91016386
Similar articles in PubMed
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Zhang Tong et al. Molecular genetics and metabolism 2022
Similar articles in PubMed
Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia.
Voskoboeva Elena et al. Frontiers in molecular biosciences 2022 8780184
Similar articles in PubMed
Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India.
Goyal Manisha et al. Annals of Indian Academy of Neurology 2022 24(5) 686-692
Similar articles in PubMed
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli Marcela Junqueira et al. The Cochrane database of systematic reviews 2021 9CD009806
Similar articles in PubMed
Mucopolysaccharidosis Type I Disease Prevalence Among Patients With Idiopathic Short Stature in Saudi Arabia: Protocol for a Multicenter Cross-sectional Study.
Alsafadi Danyah et al. JMIR research protocols 2021 10(8) e28619
Similar articles in PubMed
Gene Therapy for Mucopolysaccharidosis Type II-A Review of the Current Possibilities.
Zapolnik Pawel et al. International journal of molecular sciences 2021 22(11)
Similar articles in PubMed
Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population.
Conijn Thirsa et al. Journal of community genetics 2021
Similar articles in PubMed
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
Peck Dawn S et al. International journal of neonatal screening 2020 Feb 6(1)
Similar articles in PubMed
The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning.
Marwaha Ashish et al. American journal of medical genetics. Part A 2021 Feb
Similar articles in PubMed
A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide.
Mehta Atul et al. Orphanet journal of rare diseases 2021 Jan 16(1) 8
Similar articles in PubMed
Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI.
Ames Elizabeth G et al. International journal of neonatal screening 2020 Sep 6(3)
Similar articles in PubMed
Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update.
Burton Barbara K et al. International journal of neonatal screening 2020 Sep 6(3)
Similar articles in PubMed
A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening.
Yu Seok-Ho et al. International journal of neonatal screening 2020 Nov 6(4)
Similar articles in PubMed
Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.
Gragnaniello Vincenza et al. International journal of neonatal screening 2020 Nov 6(4)
Similar articles in PubMed
Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II.
Bilyeu Heather et al. International journal of neonatal screening 2020 Oct 6(4)
Similar articles in PubMed
Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update.
Burton Barbara K et al. International journal of neonatal screening 2020 Sep 6(3) 73
Similar articles in PubMed
Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.
Bosfield Kerri et al. American journal of medical genetics. Part A 2020 Oct
Similar articles in PubMed
Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences.
Kellar-Guenther Yvonne et al. International journal of neonatal screening 2020 Jun 6(2) 35
Similar articles in PubMed
Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes.
Conijn Thirsa et al. Journal of genetic counseling 2020 Sep
Similar articles in PubMed
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Sanders Karen A et al. International journal of neonatal screening 2020 Jun 6(2)
Similar articles in PubMed
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff Elena R et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Aug
Similar articles in PubMed
Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening.
Nijmeijer Stephanie C M et al. European journal of human genetics : EJHG 2020 Jun
Similar articles in PubMed
Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays.
Bender Fernanda et al. Genetics and molecular biology 2020 43(2) e20180334
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 25, 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