Methylmalonic Acidemia
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Last Posted: May 28, 2024
- An Early Cost-Utility Model of mRNA-Based Therapies for the Treatment of Methylmalonic and Propionic Acidemia in the United Kingdom.
Pablo E Bretos-Azcona et al. Clin Drug Investig 2024 - Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders.
Lingrong Kong et al. Clin Genet 2023 - Validation of a targeted metabolomics panel for improved second-tier newborn screening.
Mak Justin et al. Journal of inherited metabolic disease 2023 - 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 - 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 - Man whose genetic condition went undiagnosed for 36 years is awarded £2.5m.
Thornton Jacqui et al. BMJ (Clinical research ed.) 2022 1 o238 - 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 - 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 - 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
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- Page last reviewed:Feb 1, 2024
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