Results 101 to 110 of about 3,399 (216)
Rothmund-Thomson syndrome [PDF]
, 2010 Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities ...
Lidia Larizza +2 more
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Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2016 Rapp-Hodgkin syndrome (RHS) is a rare type of autosomal dominant disorder characterized by association of ectodermal dysplasia (ED) with cleft lip/palate.
Shanmugasundaram Karthikeyani +2 more
doaj +1 more source
Design of Homeostatic Temperature Control System for Hypohidrosis Patients and its effect on EEG waveform [PDF]
, 2023 Hypohidrosis is a sweating disorder that arises as a consequence of malfunctioning sweat glands due to which the human body is unable to lower its temperature. This condition can be a threat to human health as it causes severe health conditions like heat
Ali, Syed Hassan +6 more
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Acquired hypohidrosis following a drug reaction
Annals of the Academy of Medicine, Singapore, 2021 Gareth, Lim +4 more
openaire +2 more sources
Acquired anhidrosis in a patient with Sjogren syndrome and silicone breast implants
JAAD Case Reports, 2020 Mary Beth Gadarowski, BS +3 more
doaj +1 more source
Identification and Clinical Characterization of a Novel Alpha-Galactosidase A Mutation
Journal of Inborn Errors of Metabolism and Screening, 2014 Fabry disease (FD) is an inborn error of metabolism characterized by deficient/absent activity of lysosomal enzyme alpha-galactosidase A, which results in systemic accumulation of glycosphingolipids and progression to renal failure, heart and ...
Nilton Salles Rosa Neto MD, PhD
doaj +1 more source
Journal of Inborn Errors of Metabolism and Screening, 2016 Fabry disease is a rare cause of end-stage renal disease. Renal pathology is notable for diffuse deposition of glycosphingolipid in the renal glomeruli, tubules, and vasculature.
Hernán Trimarchi MD, PhD
doaj +1 more source
Tumor Necrosis Factors and Chemokines in Hair Development [PDF]
, 2012 Several embryonic organs, such as the hair follicle, develop as appendages of the ectoderm, the outermost layer of the embryo. These organs develop as a result of reciprocal tissue interactions between the surface epithelium and the underlying mesenchyme.
Lefebvre, Sylvie
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Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease [PDF]
, 2017 Aims A hallmark of Fabry disease is the concomitant development of left-ventricular hypertrophy and arterial intima-media thickening, the pathogenesis of which is thought to be related to the presence of a plasmatic circulating growth-promoting factor ...
Barbey, Frédéric +7 more
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