Publications by authors named "M Oscarson"
Article Synopsis
- Fabry disease (FD) is an X-linked lysosomal storage disorder linked to alpha-galactosidase A deficiency, and this study evaluates whether cardiac magnetic resonance imaging (CMR) can detect sphingolipid accumulation in the kidneys of FD patients.
- The study involved comparing native T1 values in FD patients (18 participants) and healthy subjects (38 participants) across various organs, including the kidneys, heart, spleen, and liver, using advanced imaging techniques.
- Results showed no significant differences in native T1 values in the renal cortex between FD patients and healthy individuals, but FD patients had a higher native T1 in the renal medulla and lower T1 in the heart, indicating differences in cardiac involvement but not
Article Synopsis
- * Conditional knockout studies in PARKIN-deficient mice reveal that loss of PARKIN does not impact mitochondrial functions such as oxidative phosphorylation or worsen brain defects, challenging previous assumptions about its importance.
- * A case study of a patient with PARKIN deficiency shows no impairment in mitochondrial function, suggesting that PARKIN is not necessary for maintaining OXPHOS activity in adult tissues.
Introduction: Brain calcifications are frequent findings on imaging. In a small proportion of cases, these calcifications are associated with pathogenic gene variants, hence termed primary familial brain calcification (PFBC). The clinical penetrance is incomplete and phenotypic variability is substantial.
View Article and Find Full Text PDFBackground: Homocystinuria (HCU) is a rare metabolic disease that affects many organs, including the eyes. Aims: to assess visual functions, ocular characteristics, visual quality of life and time from the onset of ocular manifestations to HCU-diagnosis in patients with HCU.
Material And Methods: Eighteen patients underwent ophthalmological examinations and visual quality of life questionnaires.
An increasing number of women with urea cycle disorders (UCDs) are reaching child-bearing age and becoming pregnant. Improved diagnostics and increased awareness of inherited metabolic diseases has also led to more previously undetected women being diagnosed with a UCD during or shortly after pregnancy. Pregnancy increases the risk of acute metabolic decompensation with hyperammonemia-which can occur in any trimester, and/or the postpartum period, and may lead to encephalopathy, psychosis, coma, and even death, if not diagnosed promptly and treated appropriately.
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