Last Posted: Jul 23, 2020
- 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
- Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.
Yang Nan et al. Journal of pediatric endocrinology & metabolism : JPEM 2020 Apr
- Reducing False-Positive Results in Newborn Screening Using Machine Learning.
Peng Gang et al. International journal of neonatal screening 2020 Mar 6(1)
- 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
- 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
- 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
- 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
- [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
- 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
- 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
- CLINGEN Actionability Report for Methylmalonic Academia - MUT, MMAA, MMAB, MMADHC, MCEE, MMACHC
ClinGen Actionability Working Group
- 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
- 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
- Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Scolamiero Emanuela et al. Molecular bioSystems 2015 Jun 11(6) 1525-35
- 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
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- Alpha-1 Antitrypsin Deficiency
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