Results 171 to 180 of about 293,955 (289)

”Not always the magic bullet”—Insufficient seizure control by ketogenic dietary therapies in Glut1 Deficiency Syndrome

Epilepsia Open, EarlyView.
Abstract Objective Ketogenic dietary therapies (KDTs) are the treatment of choice for Glut1 Deficiency Syndrome (Glut1DS), providing dietary ketones as an alternative fuel to the brain and effectively controlling seizures. Recent evidence indicates insufficient seizure control in Glut1DS patients despite adequate KDT and ketosis.
Joerg Klepper, Eva Runkel, Lucia Kiesel
wiley   +1 more source

Long-term forgetting, sleep, and tau in autosomal-dominant Alzheimer's disease. [PDF]

Alzheimers Dement
You JC, Bender AC, Berezuk C, Noriega-Makarskyy DT, Baena A, Munera D, Pardilla-Delgado E, Ramirez-Gomez L, Aguillon D, Giudicessi A, Martinez JE, Cronin-Golomb A, Lam AD, Quiroz YT.   +13 more
europepmc   +1 more source

Energy metabolism, adenosine, and glutamate signaling reprogramming by decanoic acid in Glut1 disorder syndrome

Epilepsia Open, EarlyView.
Abstract Glut1 deficiency syndrome (Glut1DS) leads to neurological and cognitive symptoms and is primarily treated using carbohydrate‐restricted ketogenic diets. However, a recent clinical trial of a less restrictive, non‐ketogenic, medium chain triglyceride (MCT) diet with a high decanoic acid content suggests efficacy in Glut1DS treatment.
Erwann Pain, Yatra Kapatel, Pankaj K. Singh, Katie Lloyd Jones, Jamuna Selvakumaran, Alberto Malerba, Walter Lucchesi, Tricia Rutherford, Christina A. Gurnett, Matthew C. Walker, Robin S. B. Williams   +10 more
wiley   +1 more source

​Autosomal Dominant [PDF]

, 2019
openaire   +1 more source

Bone Phenotype in Autosomal Dominant Polycystic Kidney Disease. [PDF]

Calcif Tissue Int
Jankowska M, Magnusson P, Debowska M, Lindholm B, Qureshi AR, Lukaszuk T, Dębska-Ślizień A, Fuster DG, Stenvinkel P, Haarhaus M.   +9 more
europepmc   +1 more source

Rhesus macaques with an <i>OPA1</i> mutation demonstrate features of autosomal dominant optic atrophy. [PDF]

Proc Natl Acad Sci U S A
Jaggers TN, Ripolles-Garcia A, Moshiri A, Story BD, Wang J, Chen R, Moore LG, Teixeira LBC, Shim J, Raposo AC, Casanova MI, Le SM, Park S, Young LJ, Kim S, Roszak KP, Ureno V, Karpinen PM, Echeverria N, Ardon M, Leonard BC, Knipe M, Bliss-Moreau E, Fortune B, Stout JT, Rogers J, Marsh-Armstrong N, Thomasy SM.   +27 more
europepmc   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Alagille syndrome- A rare autosomal dominant disorder [PDF]

Al Ameen Journal of Medical Sciences, 2018
Rizwan-U-Zama, Nazeer Ahmad Jeergal, Naushad Ali N. Malagi, Ravindra G. Naganoor, Syeda Umme Uzra Kaleem   +4 more
doaj  

A missense mutation in the γD crystallin gene (CRYGD) associated with autosomal dominant coral-like cataract linked to chromosome 2q [PDF]

, 2004
Andley, Usha P, Mackay, Donna S, Shiels, Alan   +2 more
core   +1 more source

Discovery and validation of a urinary extracellular vesicle protein signature for the diagnosis of renal allograft fibrosis

Interdisciplinary Medicine, EarlyView.
Discovery and validation of a urinary extracellular vesicle protein signature for the diagnosis of renal allograft fibrosis. Abstract Interstitial fibrosis is the best indicator of irreversible or ongoing renal injury after kidney transplantation and faces considerable diagnostic challenges.
Wenxuan Zhao, Yang Xu, Yuewen Wang, Shihao Jin, Wenhui Wang, Zeming Yu, Yanwen Zhang, Yuxin Zhang, Deling Kong, Bing Wang, Zhenzhou Wu, Jie Zhao, Yuebing Wang   +12 more
wiley   +1 more source