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Incidental detection of hereditary bisalbuminemia in a patient with positive DAT coombs: A case-based review.
Metabol Open
September 2024
Department of Biological Chemistry, Medical School, National and Kapodistrian University of Athens, 11527, Athens, Greece.
Bisalbuminemia is a rare, typically benign condition marked by the presence of a bifid albumin band on serum protein electrophoresis. It can either be inherited due to a point mutation or acquired in association with various medical conditions, most commonly diabetes mellitus. Bisalbuminuria, the presence of bifid albumin in urine, may or may not accompany bisalbuminemia.
View Article and Find Full Text PDFRare coincidence: Macro-thyroid-stimulating hormone and multiple manufacturer-specific interferences in thyroid hormone immunoassays.
Ann Clin Biochem
November 2024
Department of Endocrinology, Ludwig-Maximilians-Universität, Munich, Germany.
Immunoassays are widely used for laboratory assessment of endocrine functions including thyroid hormones. While usually adequate for patient evaluation, they are known to potentially suffer from interference from a variety of factors. We report the case of a 44 year-old male patient without clinical symptoms of thyroid disease who presented for specialist evaluation after pathological thyroid function tests prompted a transferal by his primary care practitioner.
View Article and Find Full Text PDFFamilial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in gene in Turkish children.
J Pediatr Endocrinol Metab
June 2024
Bio-Gen, Genetic Diseases Evaluation Center, Antalya, Türkiye.
Objectives: To investigate albumin () gene variations in patients suspected from familial dysalbuminemic hyperthyroxinemia (FDH).
Methods: Eight Turkish patients were included into the study. Clinical and laboratory characteristics of the subjects and their parents were evaluated and genetic analysis were performed.
Familial dysalbuminemic hyperthyroxinemia coexisting with a Grave's disease: a Belgian case report.
Clin Chem Lab Med
August 2024
Department of Clinical Chemistry, Laboratoire Hospitalier Universitaire de Bruxelles (LHUB-ULB), Université Libre de Bruxelles (ULB), Brussels, Belgium.
Familial dysalbuminemic hyperthyroxinemia combined with Graves' disease: a rare case report.
BMC Endocr Disord
October 2023
Department of Endocrinology, Key Laboratory of Endocrinology of National Health Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Background: Familial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant disease characterised by an abnormally increased affinity of albumin for serum thyroxine. Assay interference and differential diagnosis remain challenging for FDH. The condition is more complicated when FDH is combined with primary thyroid diseases.
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