Results 81 to 90 of about 332 (125)
Familial Hypercholesterolemia Mimicking Rheumatoid Arthritis: A Rare Case From Pakistan. [PDF]
Golani S +4 more
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Macroglossia and lip edema: A case of paraproteinemia-associated scleredema responsive to intravenous immunoglobulins. [PDF]
Hossain OB +5 more
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Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency. [PDF]
Yousaf S +5 more
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[Hyalinosis cutis et mucosae (lipoid proteinosis of Urbach-Wiethe)].
O, Serra, S, Fraga
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[Hyalinosis cutis et mucosae. Lipoid proteinosis, Urbach-Wiethe disease].
P, Jensen +3 more
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Lipoid proteinosis: Urbach‐Wiethe disease
Acta Paediatrica, International Journal of Paediatrics, 1993Lipoid proteinosis (Urbach‐Wicthe disease) is a rare autosomal recessive disorder in which hyalinized material is deposited in the skin, mucous membranes and brain. Laryngeal changes resulting in hoarseness may be present at birth or in early infancy, often being the first sign of the discase. A typical case is presented.
Cinaz P., Güvenir T., Gönlügen G.
exaly +4 more sources
Typical Radiological Findings of Lipoid Proteinosis of Urbach and Wiethe
Neuroradiology Journal, 2009Lipoid proteinosis is a rare autosomal recessive dermatosis, which can be congenital or have onset in infancy. It is characterized by the progressive deposition of an amorphous hyaline substance with a glycoprotein constitution in the skin and mucous membranes and presents as papular lesions that can aggregate forming plaques with a yellowish ...
K G, Srinivasan +3 more
exaly +3 more sources

