Cargando…

Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia

PURPOSE: Improved second-tier tools are needed to reduce false-positive outcomes in newborn screening (NBS) for inborn metabolic disorders on the Recommended Universal Screening Panel (RUSP). METHODS: We designed an assay for multiplex sequencing of 72 metabolic genes (RUSPseq) from newborn dried bl...

Descripción completa

Detalles Bibliográficos
Autores principales:	Peng, Gang, Shen, Peidong, Gandotra, Neeru, Le, Anthony, Fung, Eula, Jelliffe-Pawlowski, Laura, Davis, Ronald W., Enns, Gregory M., Zhao, Hongyu, Cowan, Tina M., Scharfe, Curt
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group US 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416784/ https://www.ncbi.nlm.nih.gov/pubmed/30209273 http://dx.doi.org/10.1038/s41436-018-0272-5

Ejemplares similares

Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns
por: Peng, Gang, et al.
Publicado: (2018)

Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes
por: Peng, Gang, et al.
Publicado: (2020)

Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders
por: Monostori, Péter, et al.
Publicado: (2017)

Methylmalonic acidemia: Neurodevelopment and neuroimaging
por: Chen, Tao, et al.
Publicado: (2023)

Association of Methylmalonic Acidemia and Erythema Nodosum
por: Karamizadeh, Zohre, et al.
Publicado: (2011)

The Value of Liver Transplantation for Methylmalonic Acidemia
por: Jiang, Yi-Zhou, et al.
Publicado: (2019)

Reducing False-Positive Results in Newborn Screening Using Machine Learning
por: Peng, Gang, et al.
Publicado: (2020)

Renal Growth in Isolated Methylmalonic Acidemia (MMA)
por: Kruszka, Paul S., et al.
Publicado: (2013)

Methylmalonic acidemia and diabetic ketoacidosis: An unusual association
por: Kumar, Suresh
Publicado: (2015)

Methylmalonic Acidemia with Novel MUT Gene Mutations
por: Panigrahi, Inusha, et al.
Publicado: (2017)

Corrigendum: The Value of Liver Transplantation for Methylmalonic Acidemia
por: Jiang, Yi-Zhou, et al.
Publicado: (2020)

Biomarkers for drug development in propionic and methylmalonic acidemias
por: Longo, Nicola, et al.
Publicado: (2022)

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?
por: Haijes, Hanneke A., et al.
Publicado: (2019)

Metabolic diversity in human populations and correlation with genetic and ancestral geographic distances
por: Peng, Gang, et al.
Publicado: (2022)

Persistent pulmonary hypertension of the newborn due to methylmalonic acidemia: a case report and review of the literature
por: Hemmati, Fariba, et al.
Publicado: (2023)

Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study
por: Chapman, Kimberly A., et al.
Publicado: (2023)

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
por: Baumgartner, Matthias R, et al.
Publicado: (2014)

Atypical imaging findings in the setting of methylmalonic acidemia in an infant
por: Chang, Warren, et al.
Publicado: (2015)

Clinical Course and Nutritional Management of Propionic and Methylmalonic Acidemias
por: Mobarak, Amira, et al.
Publicado: (2020)

Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation
por: Mobarak, Amira, et al.
Publicado: (2020)

Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia
por: Luciani, Alessandro, et al.
Publicado: (2021)

Multimodal MR imaging in acute exacerbation of methylmalonic acidemia
por: Saito, Riho, et al.
Publicado: (2023)

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data
por: Chapman, Kimberly A., et al.
Publicado: (2018)

Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations
por: Zhou, Wei, et al.
Publicado: (2019)

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: Isolated methylmalonic acidemias (MMA)
por: Manoli, Irini, et al.
Publicado: (2015)

Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia
por: Gu, Wei, et al.
Publicado: (2014)

Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants
por: Saini, Navdeep, et al.
Publicado: (2015)

Pulmonary embolism in a child with combined methylmalonic acidemia and homocystinuria
por: Chen, Lanqin, et al.
Publicado: (2018)

Long-term renal outcome in methylmalonic acidemia in adolescents and adults
por: Dao, Myriam, et al.
Publicado: (2021)

Efficacy of Living Donor Liver Transplantation in Patients with Methylmalonic Acidemia
por: Jang, Jae Guk, et al.
Publicado: (2021)

In vivo genome editing at the albumin locus to treat methylmalonic acidemia
por: Schneller, Jessica L., et al.
Publicado: (2021)

Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia
por: An, Ding, et al.
Publicado: (2017)

Methylmalonic Acidemia Masquerading as Rett Syndrome: An Atypical “Neurodegenerative” Variant?
por: Jayaram, Riddhee, et al.
Publicado: (2023)

Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance
por: Peng, Gang, et al.
Publicado: (2021)

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening
por: Ling, Shiying, et al.
Publicado: (2022)

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle
por: Chandler, Randy J, et al.
Publicado: (2007)

Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type
por: Girisha, Katta Mohan, et al.
Publicado: (2012)

Affective Disorder as the First Manifestation of Methylmalonic Acidemia: A Case Report
por: Sheikhmoonesi, Fatemeh, et al.
Publicado: (2013)

Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia
por: Zhang, Chuan, et al.
Publicado: (2020)

Anesthetic management of a patient with methylmalonic acidemia: a case report
por: Uemura, Yuta, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_vpirr9bn1rr8iljecld667lseh