Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening
, 2023 <p>Objective: Pathologic results in expanded metabolic screening tests may be due to the medications, inappropriate sampling methods, or the maternal originated inborn errors of metabolism.
Oguzhan Tin +9 more
core +1 more source
, 2017 Until now, most studies on the pathophysiological mechanisms of inborn errors of metabolism have almost exclusively focused on the measurement of concentrations of different metabolites in plasma, urine, or cerebrospinal fluid.
Frits A. Wijburg +5 more
core +1 more source
Secondary and Tertiary Prevention of Inborn Errors of Metabolism
, 2020 This thesis is focused on understanding inborn errors of metabolism, secondary and tertiary prevention of them, and also a feature addressing the limitations to effective management in developing world countries.
Olaosebikan, Kikelomo Olamide
core
Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA
Scientific ReportsLysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López +2 more
doaj +1 more source
Dissociation of AGAT, GAMT and SLC6A8 in CNS: Relevance to creatine deficiency syndromes
Neurobiology of Disease, 2010 AGAT and GAMT, the two enzymes of the creatine synthesis pathway, are well expressed within CNS, suggesting autonomous brain creatine synthesis. This contradicts SLC6A8 deficiency, which causes creatine deficiency despite CNS expression of AGAT and GAMT.
Olivier Braissant +3 more
doaj +1 more source
Reverse Phase-High Performance Liquid Chromatography: An Alternative to Expensive Tandem Mass Spectrometry Screening for Amino Acid Profiling in Dried Blood Spot in Resource Constrained Diagnostic Settings [PDF]
Journal of Krishna Institute of Medical Sciences University, 2021 Background: Altered patterns of amino acid profiles are observed in various pathological conditions including nutrition related disorders, cancer, diabetes, urea cycle defects, mitochondrial respiratory chain disorders, and aminoacidopathies.
Prajna P Shetty +5 more
doaj
Occasional seizures, epilepsy, and inborn errors of metabolism
, 2014 Seizures are a common paediatric problem, with inborn errors of metabolism being a rare underlying aetiology. The clinical presentation of inborn errors of metabolism is often associated with other neurological symptoms, such as hypotonia, movement ...
Dulac, Olivier +7 more
core +1 more source
Angelman syndrome and isovaleric acidemia: What is the link?
Molecular Genetics and Metabolism Reports, 2015 We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both
Alix Lambrecht +9 more
doaj +1 more source
Modelling Inborn Errors of Metabolism in Zebrafish
, 2014 The majority of human inborn errors of metabolism are fatal multisystem disorders that lack proper treatment and have a poorly understood mechanistic basis.
Russell, C +8 more
core +1 more source
Supporting data for Inborn Errors of Immunity and Coronavirus Disease 2019
, 2023 Metadata for publications related to the thesis Inborn Errors of Immunity and Coronavirus Disease 2019, including data on a novel inborn error of immunity, reactogenicity and immunogenicity data from a COVID-19 vaccine trial in adolescents, effectiveness
Daniel Leung (9392009)
core +1 more source