2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” This study reports that the Swedish newborn screening program for phenylketonuria, galactosaemia, and biotinidase deficiency is effective, with high sensitivity and specificity, and lower false positive rates compared to other countries, while genetic variants impact detection and incidence patterns in Sweden.
157 citations
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May 2021 in “Endocrine Reviews” This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.
January 2024 in “Biomaterials Research” This study introduced a novel 3D co-culture system that effectively mimics in vivo extracellular matrix dynamics, supporting hair follicle biology research and providing a robust platform for evaluating hair loss treatments through enhanced epithelial-mesenchymal interactions.
4 citations
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October 2006 in “Anais Brasileiros de Dermatologia” This case report describes a patient with alopecia areata treated with diphencyprone, who experienced both successful hair regrowth and later intense hair shedding, compatible with telogen effluvium, suggesting a possible link between contact dermatitis treatments and telogen effluvium onset.
86 citations
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January 1990 in “The Journal of Pediatrics” This study suggests that biotin therapy may be beneficial for individuals with partial biotinidase deficiency, as some developed symptoms later, which resolved with treatment.