Results 171 to 180 of about 5,847 (202)
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Pediatric dermatology, 2022
Enterokinase deficiency (EKD) is a rare autosomal recessive inherited disorder caused by loss‐of‐function mutations of the transmembrane protease serine 15 (TMPRSS15) gene.
Yusha Chen +3 more
semanticscholar +1 more source
Enterokinase deficiency (EKD) is a rare autosomal recessive inherited disorder caused by loss‐of‐function mutations of the transmembrane protease serine 15 (TMPRSS15) gene.
Yusha Chen +3 more
semanticscholar +1 more source
Journal of Inherited Metabolic Disease, 1983
AbstractA brief review of the clinical and biochemical features of Acrodermatitis enteropathica is given. This condition is now known to be caused by a systemic zinc deficiency secondary to a defect in the intestinal absorption of zinc and it illustrates the metabolic importance of this element in man.
D M, Bronson, R, Barsky, S, Barsky
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AbstractA brief review of the clinical and biochemical features of Acrodermatitis enteropathica is given. This condition is now known to be caused by a systemic zinc deficiency secondary to a defect in the intestinal absorption of zinc and it illustrates the metabolic importance of this element in man.
D M, Bronson, R, Barsky, S, Barsky
openaire +4 more sources
Novel nonsense mutation in the SLC39A4 gene in a Japanese boy with mild acrodermatitis enteropathica
Journal of dermatology (Print), 2021Dear Editor, Acrodermatitis enteropathica (AE), an autosomal recessive disorder associated with zinc deficiency, is characterized by dermatitis, alopecia, diarrhea, and growth retardation.1 We report a case of AE with a novel, compound heterozygous ...
N. Ichiki +4 more
semanticscholar +1 more source
International Journal of Dermatology, 1978
Acrodermatisis enteropathical has had a remarkable hist orical course beginning only 35 years ago, first passing through a period of empiric management with the 8-hydroxyquinoline drugs and culminating with the discovery of a biochemical effect in zinc absorption.
K H, Neldner +2 more
openaire +2 more sources
Acrodermatisis enteropathical has had a remarkable hist orical course beginning only 35 years ago, first passing through a period of empiric management with the 8-hydroxyquinoline drugs and culminating with the discovery of a biochemical effect in zinc absorption.
K H, Neldner +2 more
openaire +2 more sources
Trichoscopy in acrodermatitis enteropathica
International Journal of Dermatology, 2021Acrodermatitis enteropathica (AE) is a rare genetic disorder characterized by impaired absorption of dietary zinc, which commonly features alopecia. However, hair abnormalities associated with this condition have been poorly described in the literature ...
Lucas Samuel Perinazzo Pauvels +4 more
semanticscholar +1 more source
A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Journal of Saidu Medical CollegeBackground: Biotinidase deficiency is a rare autosomal recessive metabolic disorder caused by defective recycling of biotin. This results in multisystem involvement, with dermatological, neurological, and immunological manifestations.
Muneeba Qadus +4 more
semanticscholar +1 more source
Acrodermatitis enteropathica during parenteral nutrition: a pediatric case report.
Acta bio-medica : Atenei Parmensis, 2023F. Proli +10 more
semanticscholar +1 more source
Acquired Acrodermatitis Enteropathica
The American Journal of Medicine, 2021Anu Anna George +3 more
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