Results 21 to 30 of about 32,945 (208)
, 2021 Inborn errors of metabolism (IEMs) represent a complex system model, in need of a shift of approach exploring the main factors mediating the regulation of the system, internal or external and overcoming the traditional concept of biochemical and genetic ...
Juri Zuvadelli +12 more
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BMC Pediatrics, 2021 Background Most white matter diseases present on magnetic resonance imaging as focal or diffuse T2-hyperintensities. However, in a few of them, radially oriented stripes of low (relatively normal) signal intensity are observed within diffusely affected ...
Monika Bekiesinska-Figatowska +5 more
doaj +1 more source
Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria
Medicina, 2021 Methylmalonic aciduria is treated with a natural protein-restricted diet with adequate energy intake to sustain metabolic balance. Natural protein is a source of methylmalonic acid precursors, and intake is individually modified according to the severity
Agnieszka Kowalik +2 more
doaj +1 more source
Journal of Pediatric Research, 2018 Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç +4 more
doaj +1 more source
Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy
Endocrinology, Diabetes & Metabolism, 2023 Background Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always capable to ...
Valentina Rovelli +12 more
doaj +1 more source
Bone health in patients with inborn errors of metabolism
, 2018 Inborn errors of metabolism encompass a wide spectrum of disorders, frequently affecting bone. The most important metabolic disorders that primarily influence calcium or phosphate balance, resulting in skeletal pathology, are hypophosphatemic rickets and
Langeveld, M., Hollak, C. E. M.
core +1 more source
Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions: A Diagnostic Algorithm With Focus on Treatable Conditions [PDF]
, 2018 Although inborn errors of metabolism do not represent the most common cause of seizures, their early identification is of utmost importance, since many will require therapeutic measures beyond that of common anti-epileptic drugs, either in order to ...
Nenad Blau +25 more
core +1 more source
DDIEM - Drug Database for inborn errors of metabolism
, 2020 DDIEM - Drug Database for inborn errors of metabolism is a database on therapeutic strategies for inborn errors of metabolism. These strategies are classified by mechanism and outcome in DDIEM ontology.
Marwa Abdelhakim (8295288) +13 more
core +2 more sources
Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain
Heliyon, 2019 Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulation of
Carolina Cardona +8 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2021 Carnitine transporter defect (CTD) is a potentially life-threatening disorder causing acute metabolic decompensation, cardiac arrhythmia, and cardiac and skeletal myopathies. CTD is included in many newborn screening (NBS) programs.
Katharina A. Schiergens +9 more
doaj +1 more source