Results 51 to 60 of about 22,929 (214)
Teratogenic inborn errors of metabolism [PDF]
Postgraduate Medical Journal, 1986 SummaryMost children with inborn errors of metabolism are born healthy without malformations as the fetus is protected by the metabolic activity of the placenta. However, certain inborn errors of the fetus have teratogenic effects although the mechanisms responsible for the malformations are not generally understood.
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, 2016 Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths.
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Inborn errors of metabolism: iron [PDF]
British Medical Bulletin, 1999 The iron content of the body is normally closely regulated. Despite this, iron deficiency anaemia is common in women because iron losses due to menstruation and childbirth are not always compensated for by iron absorption from the diet. The role of transferrin in delivering iron to cells and of ferritin in storing iron within cells is well understood ...
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The Challenge of Diagnosis and Indication for Treatment in Fabry Disease
Journal of Inborn Errors of Metabolism and Screening, 2017 Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic ...
Marco A. Curiati MD +7 more
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CNTF protects oligodendrocytes from ammonia toxicity: Intracellular signaling pathways involved
Neurobiology of Disease, 2009 In pediatric patients, hyperammonemia can provoke irreversible damages to developing CNS like cortical atrophy, ventricular enlargement, demyelination or gray and white matter hypodensities which are concordant with alterations of neurons and ...
Laurène Cagnon, Olivier Braissant
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Is susceptibility to severe
, 2020 Peter T. Clayton
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Frontiers in Immunology, 2019 Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision circles (TRECs) in dried blood spot (DBS) samples.
Ana Argudo-Ramírez +15 more
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THE YIELD OF A UNIFIED SCREEN FOR THE INVESTIGATION OF INBORN ERRORS OF METABOLISM IN CHILDREN WITH NEURODEVELOPMENTAL CONDITIONS – A RETROSPECTIVE CHART REVIEW [PDF]
, 2018 Norah Nahhas +2 more
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Role of caspases, calpain and cdk5 in ammonia-induced cell death in developing brain cells
Neurobiology of Disease, 2008 Hyperammonemia in neonates and infants causes irreversible damages in the developing CNS due to brain cell loss. Elucidating the mechanisms triggering ammonia-induced cell death in CNS is necessary for the development of neuroprotective strategies.
Laurène Cagnon, Olivier Braissant
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Inborn errors of copper metabolism [PDF]
, 2013 Two copper-transporting ATPases are essential for mammalian copper homeostasis: ATP7A, which mediates copper uptake in the gastrointestinal tract and copper delivery to the brain, and ATP7B, which mediates copper excretion by the liver into bile. Mutations in ATP7A may cause three distinct X-linked conditions in infants, children, or adolescents ...
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