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Published in 2020 at "JAAD Case Reports"
DOI: 10.1016/j.jdcr.2020.04.006
Abstract: BP: bullous pemphigoid CBC: complete blood count WBC: white blood cell count INTRODUCTION Bullous pemphigoid (BP) is a rare autoimmune bullous disorder caused by IgG autoantibodies against hemidesmosomes at the dermoepidermal junction. BP typically occurs…
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Keywords:
blistering rashes;
bullous pemphigoid;
two infants;
infants blistering ... See more keywords
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Published in 2017 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2017-313273.177
Abstract: Background and aims Sturge-Weber syndrome is a congenital disorder associating capillary malformations of the face (port-wine birthmark of forehead and/or eyelid) with cerebral leptomeningeal angiomatosis and with glaucoma. When the capillary malformation involves the forehead…
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Keywords:
birthmark;
sturge weber;
weber syndrome;
two infants ... See more keywords
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Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2019.00451
Abstract: Beta-ketothiolase deficiency (BKTD) is an autosomal recessive disease caused by a defect of mitochondrial acetoacetyl-CoA thiolase. Beginning in 2014, we carried out newborn screening by tandem mass spectrometry (MS/MS) followed by next-generation sequencing (NGS) and…
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Keywords:
two infants;
beta ketothiolase;
newborn screening;
ketothiolase deficiency ... See more keywords