Results 231 to 240 of about 6,268,347 (286)

Splenic Steatopathy: A Clinical and Experimental Framework for Lipid-Associated Splenic Pathology. [PDF]

Clin Exp Gastroenterol
Shelat VG.
europepmc   +1 more source

Selective N‐Functionalization of Pyrazoles

European Journal of Organic Chemistry, EarlyView.
This review traces the evolution of regioselective N‐functionalization strategies for pyrazoles, a key class of nitrogen heterocycles widely used in medicinal chemistry. Due to rapid tautomerism, N‐functionalization often lacks selectivity, leading to poor and unpredictable regioisomeric outcomes.
Lucas Popek, Matthias Schrader, Christopher J. Teskey   +2 more
wiley   +1 more source

Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy. [PDF]

Int J Mol Sci
Lee CL, Chuang CK, Chang YH, Chiu HC, Tu YR, Lo YT, Wu JY, Lin HY, Lin SP.   +8 more
europepmc   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

The endo-lysosomal-lipid axis: bidirectional interactions between membrane trafficking dysfunction and lipid metabolic disorders. [PDF]

Front Cell Dev Biol
Du Y, Li L, Du M, Xu Z, Zhang X, Cao W.
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Current Status of Cellular and Gene-Based Therapies for Congenital Metabolic Disorders: A Review. [PDF]

Med Sci Monit
Masiarz A, Kosteczko P, Mazur M, Pelczar P, Kimber-Trojnar Ż, Leszczyńska-Gorzelak B.   +5 more
europepmc   +1 more source

Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf-Hirschhorn Syndrome: Diagnostic Overshadowing. [PDF]

JIMD Rep
Cifuentes-Uribe K, Girard S, Froissart R, Pettazzoni M, Guffon N.   +4 more
europepmc   +1 more source

Case Report: Wolman disease caused by LIPA variants in two Chinese infants and a focused literature synthesis. [PDF]

Front Pediatr
Zhang L, Yu Q, Ge X, Xie X.
europepmc   +1 more source

Pathological depositions in human disease: converging mechanisms in atherosclerosis, Alzheimer's disease, and related disorders. [PDF]

Mol Biomed
Ragolia L.
europepmc   +1 more source