Results 101 to 110 of about 2,438 (157)

Hepatic Steatosis: A Presentation of Cholesteryl Ester Storage Disease. [PDF]

ACG Case Rep J
Lee A, Raasikh T, Bangaru S, Yano S, Chopra S, Saito T.   +5 more
europepmc   +1 more source

Activity measure post-acute care score for discharge outcomes is associated with prolonged venous transit on perfusion imaging in reperfused large vessel occlusion strokes. [PDF]

PM R
Koneru M, Mei JY, Lakhani DA, Balar AB, Hoseinyazdi M, Salim HA, Ozkara BB, Luna LP, Deng F, Hyson NZ, Dmytriw AA, Guenego A, Heit JJ, Albers GW, Wolman D, Faizy TD, Pulli B, Wintermark M, Wen S, Vagal V, Sriwastwa A, Aziz Y, Xu R, Lu H, Urrutia VC, Marsh EB, Leigh R, Bahouth M, Llinas RH, Nael K, Gonzalez-Fernandez M, Hillis AE, Yedavalli VS.   +32 more
europepmc   +1 more source

Lipolysis in Health and Disease: Pathways, Regulation, and Metabolic Consequences. [PDF]

Curr Diab Rep
Bordelon CL, Stephens JM.
europepmc   +1 more source

Real-World Study of Management and Outcomes of Patients with Lysosomal Acid Lipase Deficiency (LAL-D) in France. [PDF]

Adv Ther
Lacaille F, Marguet S, Rascon Velasco V, Hasanova R, Amri E, Chevrou-Severac H, Abel F, de Pouvourville G, Ratziu V, Feillet F.   +9 more
europepmc   +1 more source

Trial Interviews to Explore Glycogen Storage Disease Type Ia Patient Experiences Following Gene Therapy. [PDF]

J Health Econ Outcomes Res
Turner-Bowker DM, Butler J, Egan S, Weinstein DA, Rodriguez-Buritica DF, Ahmad A, Couce ML, Riba-Wolman R, Mitchell JJ, Theodore-Oklota C.   +9 more
europepmc   +1 more source

Wolman disease

, 2018
openaire   +1 more source

Citywide implementation of a rapid whole-genome sequencing program for critically ill pediatric patients. [PDF]

Nat Med
Rabea F, Aljasmi I, Jain R, Ramaswamy S, Taylor A, Shenbagam S, Chekroun I, Sinha S, El Naofal M, Yaslam S, Alfalasi R, Khadija S, Farag M, AlHajjaj S, Almadhoun F, Sharaf R, Khyriem C, Abulhoul H, Elabd H, Mustafa M, Almarri M, Du Plessis S, AlKhnbashi OS, Majid I, Buhumaid R, Al Suwaidi H, AlAwadhi M, AlKhayat A, Alsheikh-Ali A, Zahraa J, Shankar S, Abou Tayoun A.   +31 more
europepmc   +1 more source

No association of HLA-DRB1*15:01 and HLA-DRB1*11 in systemic juvenile idiopathic arthritis-associated macrophage activation syndrome and other secondary hemophagocytic lymphohistiocytoses. [PDF]

EULAR Rheumatol Open
Hinze CH, Wegehaupt O, Fuehner S, Kessel C, Lehmberg K, Ehl S, Foell D.   +6 more
europepmc   +1 more source

Deletion of CH25H and LIPA Genes in Human Abolishes Biosynthesis of 25-Hydroxycholesterol but not of 7α,25-Dihydroxysterols and Enhances Non-enzymatic Cholesterol Oxidation: Metabolic Changes are Partially Reversed by Hematopoietic Stem Cell Transplant^‡

Yutuc E, Ghosh A, Abdel-Khalik J, Goenka A, Asgari MA, Lopez-Castejon G, Beaman GM, Wynn RF, Newman WG, Jones SA, Griffiths WJ, Wang Y.   +11 more
europepmc   +1 more source