Results 31 to 40 of about 166,338 (256)

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of swiss ancestry with congenital lipoid adrenal hyperplasia [PDF]

, 2005
Context: Lipoid congenital adrenal hyperplasia (CAH) is the most severe form of CAH leading to impaired production of all adrenal and gonadal steroids.
Maret, A, Achermann, J. C., Mullis, PE, Morel, Y., Leheup, B, Flück, Christa E., Portrat-Doyen, Stéphanie, Leheup, B., Achermann, JC, Mallet, D, Fluck, CE, Mullis, Primus-Eugen, Fluck, C. E., Maret, A., Morel, Yves, Mullis, P. E., Theintz, Gérald E., Portrat-Doyen, S., Theintz, GE, Leheup, Bruno, Mallet, D., Achermann, John C., Theintz, G. E., Morel, Y, Portrat-Doyen, S, Maret, Alexander, Mallet, Delphine   +26 more
core   +2 more sources

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Racine, M, Naville, D., Nurnberg, G., Green, J, Metherell, L. A., Nurnberg, P, Krone, NP, Krone, N. P., Arlt, W, Tomlinson, Jeremy, Achermann, JC, Halaby, G, Tomlinson, J. W., Clark, A. J. L., Krone, Nils, Naville, D, Berney, D. M., Begeot, M., Huebner, A., Halaby, G., Green, J., Berney, DM, Clark, AJ, Lin, L, Lin, L., Racine, M., Arlt, Wiebke, Achermann, J. C., Arlt, W., Nurnberg, G, Metherell, LA, Tomlinson, JW, Begeot, M, Huebner, A, Nurnberg, P., Clark, AJL   +35 more
core   +1 more source

Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR) [PDF]

, 2010
Context: Nonclassic congenital lipoid adrenal hyperplasia (lipoid CAH) is a recently recognized disorder caused by mutations in the steroidogenic acute regulatory protein (StAR) that retain partial function.
Miller, W. L., Lang-Muritano, M., Soccio, R. E., Miller, W L, Sahakitrungruang, T, Walker, J. M., Miller, WL, Walker, J M, Achermann, J. C., Achermann, JC, Lang-Muritano, M, Sahakitrungruang, T., Achermann, J C, Walker, JM, Soccio, R E, Soccio, RE   +15 more
core   +1 more source

Липоидная пневмония: клинические случаи [PDF]

, 2012
Lipoid pneumonia: case reports.Липоидная пневмония: клинические ...
А. Л. Черняев, E. V. Koshnazarova, N. V. Trushenko, A. L. Chernyaev, Н. В. Трушенко, Е. В. Кошназарова, С. Н. Авдеев, С. Ю. Чикина, M. V. Samsonova, S. N. Avdeev, S. Yu. Chikina, М. В. Самсонова   +11 more
core   +1 more source

Endogenous lipoid pneumonia associated with pulmonary neoplasia in three dogs [PDF]

, 2020
Endogenous lipoid pneumonia is a poorly characterized condition in veterinary medicine and there are very few reports describing this pathology, particularly in canine patients.
Liuti, Tiziana, Cazzini, Paola, Perez Accino Salgado, Jorge, Pecceu, Evi   +3 more
core   +1 more source

Exogenous lipoid pneumonia (ELP): when radiologist makes the difference [PDF]

, 2016
Lipoid pneumonia is an uncommon disorder characterized by accumulation of lipid components into the interstitial and alveolar compartment. The usual classification distinguishes endogenous and exogenous and acute or chronic forms, related to the type of ...
Valente, T, CALABRESE, GIOVANNA, Rea, Gaetano, MOLINO, ANTONIO, Valente, Tullio, Rea, G, VATRELLA, ALESSANDRO, PERNA, FRANCESCO   +7 more
core   +2 more sources

Lipoid Pneumonia: Siphoning of Gasoline

Journal of Association of Pulmonologist of Tamil Nadu
Lipoid pneumonia is a rare condition that accounts for 1%–2.5% of all pneumonia. There are two types – exogenous and endogenous. In recent days, exogenous lipoid pneumonia has been on an increasing trend due to the exponential use of vaping.
Keerthi A. Prakash, Aarthi Narasimhan, Riha Mehrin   +2 more
doaj   +1 more source

A fatty cough

Lung India, 2016
Lipoid pneumonia is a rare form of pneumonia caused by accumulation of exogenous or endogenous lipids in the pulmonary system. Symptoms can often range from being asymptomatic to presenting with chest pain, fevers and shortness of breath. High resolution
Sayed K Ali, Hammad Bhatti
doaj   +1 more source

Isolation of Cryptococcus gattii from feline chronic stage lipoid pneumonia

Medical Mycology Case Reports, 2019
We hereby report a unique manifestation of feline cryptococcosis in the form of extensively consolidated lipoid pneumonia resulting in an isolated space-occupying lung lobe mass.
Robert Newman, Megan Schaible
doaj   +1 more source

A 21-Year-Old Man with Systemic-Onset Juvenile Rheumatoid Arthritis, Cough and Progressive Dyspnea

Canadian Respiratory Journal, 2010
Primary or nonobstructive, endogenous lipoid pneumonia is a rare clinical entity usually associated with an underlying systemic disease. The present report describes a case involving a 21-year-old man with systemic-onset juvenile rheumatoid arthritis who
A Leber, S Carette, KR Chapman, DM Hwang, LG Singer, TK Marras   +5 more
doaj   +1 more source