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Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study [PDF]

open access: yesOrphanet Journal of Rare Diseases
Background Inborn errors of metabolism (IEMs) are rare disorders that are heterogeneous in severity and clinical presentation. Patients with IEMs should receive the vaccination schedule recommended for the whole population, and specific vaccinations ...
Anne-Sophie Renous   +11 more
doaj   +2 more sources

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

open access: yesMetabolites, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver   +2 more
core   +3 more sources

Carnitine Inborn Errors of Metabolism [PDF]

open access: yesMolecules, 2019
Carnitine plays essential roles in intermediary metabolism. In non-vegetarians, most of carnitine sources (~75%) are obtained from diet whereas endogenous synthesis accounts for around 25%. Renal carnitine reabsorption along with dietary intake and endogenous production maintain carnitine homeostasis.
Mohammed Almannai   +2 more
openaire   +4 more sources

Treatment of inborn errors of metabolism [PDF]

open access: yesMolecular Cytogenetics, 2014
Inborn errors of metabolism (IEM), though individually rare are collectively common. Average incidence of 50+ common IEMs is considered to be approx 1 in 1,000 live births. With annual birth rate of approximately 25 million babies in India, we can expect at least 25,000 babies being born with IEM in India and hence it is a significant burden to the ...
Anil B Jalan
core   +5 more sources

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention

open access: yesFrontiers in Neuroscience, 2021
Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase ...
T. Žigman   +3 more
semanticscholar   +1 more source

Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France

open access: yesOrphanet Journal of Rare Diseases, 2023
Background Phenylketonuria (PKU) is a rare genetic metabolic disorder in which especially high phenylalanine (Phe) concentrations cause brain dysfunction.
Victor Maler   +7 more
doaj   +1 more source

Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism

open access: yesCommunications Biology, 2021
The identification of disease biomarkers plays a crucial role in developing diagnostic strategies for inborn errors of metabolism and understanding their pathophysiology.
R. V. van Outersterp   +16 more
semanticscholar   +1 more source

Assessment of auditory functions in patients with hepatic glycogen storage diseases

open access: yesThe Turkish Journal of Pediatrics, 2022
Background. Hepatic glycogen storage diseases are a group of diseases manifesting mainly with hypoglycemia and hepatomegaly. The patients require frequent daytime and nocturnal feedings.
Merve Emecen Şanlı   +9 more
doaj   +1 more source

Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

open access: yesNature Communications, 2021
Metabolite levels in urine may provide insights into genetic mechanisms shaping their related pathways. We therefore investigate the cumulative contribution of rare, exonic genetic variants on urine levels of 1487 metabolites and 53,714 metabolite ratios
Yurong Cheng   +16 more
semanticscholar   +1 more source

Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism

open access: yesJournal of Laboratory Medicine, 2021
Next generation sequencing (NGS) technology has allowed cost-effective massive parallel DNA sequencing. To evaluate the utility of NGS for newborn screening (NBS) of inborn errors of metabolism (IEM), a custom panel was designed to target 87 disease ...
Tsang Kwok Yeung   +5 more
doaj   +1 more source

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