Results 261 to 270 of about 251,409 (391)

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Anastrozole-induced autoimmune hepatitis: a rare case report and literature review. [PDF]

Oxf Med Case Reports
Haghollahi S, Wood RM, Ould Ismail AA, Ren B, Afzal MZ.   +4 more
europepmc   +1 more source

Glutamic-Aspartic Transaminase

, 1965
Athanasios E. Evangelopoulos, Irwin W. Sizer   +1 more
openalex   +1 more source

Transaminase and Liver-function Studies in Infectious Mononucleosis [PDF]

, 1960
S B Rosalki, T. G. Jones, Aurélie Verney   +2 more
openalex   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Analysis of a case of severe pancreatitis complicated with preeclampsia. [PDF]

J Int Med Res
Xin X, Cao Y, Liu Y, Chen X, Wei K, Peng X, Cai W, Yao J.   +7 more
europepmc   +1 more source

Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies

Journal of Pediatric Epilepsy, 2014
Mahsa Parviz, K. Vogel, K. Gibson, P. Pearl   +3 more
semanticscholar   +1 more source

Rapid severe hypertension and organ damage in two‐kidney two‐clip rats produced by different sizes of clips

Animal Models and Experimental Medicine, EarlyView.
Blood pressure increases immediately when the 2K2C rats (made with 0.3, 0.25, and 0.2 mm U‐shaped clips) regain consciousness from anesthesia. 100% of the rats develop hypertension on the day of 2K2C surgery. Blood pressure continues to rise, resulting in severe hypertension and organ damage to the brain, heart, aorta, and kidneys at 1, 2, 4, and 6 ...
Jia‐Sheng Tian, Qi‐Sheng Ling, Yu‐Chen Wei, Dao‐Xin Wang, Chao‐Yu Miao   +4 more
wiley   +1 more source

From Amino Acids to α‐Keto Acids via β‐Elimination and Transamination Initiates a Pathway to Prebiotic Reaction Networks

Angewandte Chemie, EarlyView.
A reaction starting from two amino acids, phosphoserine and Gly, reveals a pathway to the α‐keto acid building blocks pyruvate and glyoxylate, key components of a plausible early metabolic system. A one‐pot β‐elimination and transamination sequence also initiates a cascade of protometabolic transformations that provide crucial insights into the ...
Louis M.P. Ter‐Ovanessian, Kate L. Ryan, Joshua Shaarda, R. Trent Stubbs, Ramanarayanan Krishnamurthy, Greg Springsteen   +5 more
wiley   +2 more sources

Application effect of standardized nursing process of abdominal drainage tube in cholelithiasis: a single-center retrospective cohort study. [PDF]

BMC Gastroenterol
Shi W, Huang Y, Xu Z, Huang X, Tong G, Lin J, Zhou Y, Yang Q, Chen C.   +8 more
europepmc   +1 more source