Results 131 to 140 of about 1,156 (180)

Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency. [PDF]

JCEM Case Rep
Yousaf S, Nizar R, Alias G, Taylor D, Fulton P, Antoniadi T.   +5 more
europepmc   +1 more source

Rare but not to be overlooked: Epidemiology and strategies for rare dermatological diseases in China. [PDF]

Intractable Rare Dis Res
Han Y, Zhuo Q, Chen N, Zhang H, Lin L, Song P.   +5 more
europepmc   +1 more source

Prevalence of Severe Hypercholesterolemia and Familial Hypercholesterolemia Phenotype in Patients with Acute Coronary Syndrome. [PDF]

Medicina (Kaunas)
Aliošaitienė U, Laucevičius A, Smailytė U, Rinkūnienė E, Puronaitė R, Barysienė J, Petrulionienė Ž.   +6 more
europepmc   +1 more source

Familial Hypercholesterolemia Mimicking Rheumatoid Arthritis: A Rare Case From Pakistan. [PDF]

Cureus
Golani S, Khan S, Saeed Z, Talat H, Shah N.   +4 more
europepmc   +1 more source

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Lipoid proteinosis: Urbach-Wiethe disease

Acta Paediatrica, 1993
Lipoid 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.
openaire   +3 more sources

Lipoid Proteinosis (Urbach-Wiethe Disease)

Ophthalmologica, 1999
The aim of this study has been to assess the clinical presentation and biochemical profile of lipoid proteinosis within a defined pedigree. Glycoprotein analysis was compared to normal values in an attempt to define a biochemical phenotype. Six affected family members were identified with variable degrees of disease expression.
Costagliola C, Verolino M, Landolfo P, Winkler NR, MASTROPASQUA, Leonardo, Landolfo V.   +5 more
openaire   +6 more sources

Lipoid Proteinosis (Urbach-Wiethe's Disease)

JAMA, 1963
openaire   +3 more sources

Lipoid proteinosis (Urbach-Wiethe’s Disease)

The Turkish Journal of Ear Nose and Throat, 2015
A 25-year-old female patient was admitted to our outpatient clinic with postpartum hoarseness. Punch biopsy specimens obtained from the larynx and sublingual region revealed multi-folded squamous epithelium with a hyperkeratosis pattern and amorphous hyaline material aggregation. This aggregation was also remarkable around the vessels.
Hatice, Karaman, Işın, Soyuer, İsmail, Külahcı, Nursen, Tatlışen   +3 more
openaire   +2 more sources

Urbach‐Wiethe Disease

Journal of Cutaneous Pathology, 1980
A case of lipoid proteinosis was subjected to clinical, histologic and electron microscopic study. Palpebral biopsies showed a large dermal infiltration composed of closely interwoven granulofilamentous material in the superficial and deep dermis. Collagen fibers were normal.
G, Fabrizi, B, Porfiri, M, Borgioli, F, Serri   +3 more
openaire   +2 more sources