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 (47395)
CDC/NIH Web Information Database (32192)
CDC-Authored Genomics and Precision Health Publications Database (6062)
Precision Health Database (63770)
Tier-Classified Guidelines Database (534)
Pathogen Advanced Molecular Detection Database (26823)
All of Us Reports and Publications Database (681)
Human Genome Epidemiology
Human Genome Epidemiology Literature Finder (226753)
Epigenetic Epidemiology Publications Database (22811)
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: May 03, 2024
. (Total: 63770 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 - 21 (of 21 Records)
Query Trace:
Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders.
Lingrong Kong et al. Clin Genet 2023
Similar articles in PubMed
Validation of a targeted metabolomics panel for improved second-tier newborn screening.
Mak Justin et al. Journal of inherited metabolic disease 2023
Similar articles in PubMed
Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism.
Unsal Yagmur et al. Journal of pediatric endocrinology & metabolism : JPEM 2022
Similar articles in PubMed
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
Martín-Rivada Álvaro et al. Journal of pediatric endocrinology & metabolism : JPEM 2022
Similar articles in PubMed
Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.
Magdy Rofaida M et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2021
Similar articles in PubMed
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.
Zhang Ruixue et al. Scientific reports 2021 Jan 11(1) 2699
Similar articles in PubMed
Plasma Methylcitric Acid and Its Correlations With Other Disease Biomarkers: The Impact in The Follow Up of Patients With Propionic and Methylmalonic Acidemia.
Maines E et al. Journal of inherited metabolic disease 2020 Jul
Similar articles in PubMed
Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.
Yang Nan et al. Journal of pediatric endocrinology & metabolism : JPEM 2020 Apr
Similar articles in PubMed
Reducing False-Positive Results in Newborn Screening Using Machine Learning.
Peng Gang et al. International journal of neonatal screening 2020 Mar 6(1)
Similar articles in PubMed
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: what to aim, expect and evaluate from newborn screening?
Haijes H A et al. Journal of inherited metabolic disease 2019 Dec
Similar articles in PubMed
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Wang Ting et al. Frontiers in genetics 2019 101052
Similar articles in PubMed
Pregnancy outcomes of reciprocal translocation carriers with two or more unfavorable pregnancy histories: before and after preimplantation genetic testing.
Huang Caiyi et al. Journal of assisted reproduction and genetics 2019 Sep
Similar articles in PubMed
CLINGEN Actionability Report for Methylmalonic Academia - MUT, MMAA, MMAB, MMADHC, MCEE, MMACHC
ClinGen Actionability Working Group
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia.
Peng Gang et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 21(4) 896-903
Similar articles in PubMed
[Heterogeneous phenotypes, genotypes, treatment and prevention of 1 003 patients with methylmalonic acidemia in the mainland of China].
Liu Y et al. Zhonghua er ke za zhi = Chinese journal of pediatrics 2018 Jun 56(6) 414-420
Similar articles in PubMed
Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations.
Zhou Wei et al. Frontiers in genetics 2018 9726
Similar articles in PubMed
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Wang Wenjie et al. BMC medical genetics 2019 Jan 20(1) 3
Similar articles in PubMed
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
Shibata Naoaki et al. Molecular genetics and metabolism reports 2018 Sep 165-10
Similar articles in PubMed
Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.
Hassan Fayza A et al. Journal of medical screening 2016 Sep 23(3) 124-9
Similar articles in PubMed
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Scolamiero Emanuela et al. Molecular bioSystems 2015 Jun 11(6) 1525-35
Similar articles in PubMed
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
Thiboonboon Kittiphong et al. PLoS ONE 10(8) e0134782
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:
May 03, 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