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Severe pancytopenia at the presentation of Imerslund-Gräsbeck syndrome in a 23-month-old Italian boy.
Ital J Pediatr
September 2024
Department of Pediatrics, Polytechnic University of Marche, via Corridoni, Ancona, 60123, Italy.
Article Synopsis
- Imerslund-Gräsbeck syndrome (IGS) is a rare genetic condition that leads to anemia and the body not absorbing vitamin B12 properly.
- A 23-month-old baby in Italy was diagnosed with IGS after showing serious health issues, but vitamin B12 treatment helped improve the situation.
- Genetic tests revealed two unusual changes in a specific gene, which are linked to the condition, and it's important to diagnose IGS early to avoid serious problems.
Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification.
Front Genet
July 2024
Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, United States.
Genetic variability persists across diverse populations, and it may impact the characterization of heritable diseases in different ancestral groups. Cystinosis is a metabolic disease caused by pathogenic variants in the gene causing the cellular accumulation of cystine. We attempted to assess the currently poorly characterized prevalence of cystinosis by employing a population genetics methodology.
View Article and Find Full Text PDFVarious rare inherited disorders can be associated with kidney involvement, including glomerulopathies, tubulopathies, multiple cysts, congenital anomalies of the kidneys and urinary tract, urolithiasis, malignant and benign tumors. Genetic nephropathy should be always considered in children, adolescents and young patients with the kidneys or urinary tract disorders and/or patients with positive family anamnesis. Extrarenal manifestations can be a valuable clue for diagnosis of certain hereditary diseases, e.
View Article and Find Full Text PDFDiagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report.
BMC Nephrol
September 2017
Department of Pediatrics, Yokohama City University, Graduate School of Medicine, Yokohama, Kanagawa, Japan.
Background: Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan.
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