Results 101 to 110 of about 1,586 (183)

Gene therapy and mRNA drugs approach for mitochondrial OXPHOS deficiencies. [PDF]

Mol Ther
Garone C, Sabeni S, Carli S.
europepmc   +1 more source

Phenotype and genotype in hereditary chronic intestinal pseudo-obstruction with small intestine involvement. [PDF]

Front Med (Lausanne)
Chen Y, Chen X, Ou C, Chen Y, Li J, Li J, Liu Y, Li X.   +7 more
europepmc   +1 more source

Variabilidad genotipo fenotipo en encefalopatía neurogastrointestinal mitocondrial MNGIE por una mutación sin codón de parada

, 2014
Blair Ortíz Giraldo, Diego Fernando Batero, Jorge Montoya, Juan Manuel Esquivel Alfaro, Alejandra Wilches   +4 more
openalex   +1 more source

Successful Sequential Liver and Isolated Intestine Transplantation for Mitochondrial Neurogastrointestinal Encephalopathy Syndrome: A Case Report. [PDF]

Ann Transplant
Kubal CA, Mihaylov P, Snook R, Soma D, Saeed O, Rokop Z, Lacerda M, Graham BH, Mangus RS.   +8 more
europepmc   +1 more source

Mitochondrial tRNA-Derived Diseases. [PDF]

Int J Mol Sci
Petropoulou A, Kypraios N, Rizopoulou D, Kouvela A, Maniatis A, Anastasopoulou K, Anastogianni A, Korfiatis T, Grafanaki K, Stamatopoulou V, Stathopoulos C.   +10 more
europepmc   +1 more source

Mitochondrial cardiomyopathies: navigating through different clinical and management pictures between adult and paediatric forms. [PDF]

Front Cardiovasc Med
Adorisio R, Cantarutti N, Siri B, Bellettini E, Ingrasciotta G, Mencarelli E, Graziani F, Lillo R, Di Marzio S, Di Mambro C, Drago F, Amodeo A, Martinelli D.   +12 more
europepmc   +1 more source

Advances in Management of Mitochondrial Myopathies. [PDF]

Int J Mol Sci
Bangeas A, Poulidou V, Liampas I, Marogianni C, Aloizou AM, Tsouris Z, Sgantzos M, Arnaoutoglou M, Bogdanos DP, Dardiotis E, Siokas V.   +10 more
europepmc   +1 more source

The Impact of Heritable Myopathies on Gastrointestinal Skeletal Muscle Function. [PDF]

Cell Mol Gastroenterol Hepatol
Iyer A, Alizadeh M, Mariano JM, Kontrogianni-Konstantopoulos A, Raufman JP.   +4 more
europepmc   +1 more source

Endocrine system disturbances in children with inherited metabolic diseases: a narrative review. [PDF]

Front Endocrinol (Lausanne)
Tagi VM, Fiori L, Montanari C, Tonduti D, Ferrario M, Gambino M, Greco IP, Cecchini A, Calcaterra V, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source

The senescence-associated secretome of Hedgehog-deficient hepatocytes drives MASLD progression. [PDF]

J Clin Invest
Jun JH, Du K, Dutta RK, Maeso-Diaz R, Oh SH, Wang L, Gao G, Ferreira A, Hill J, Pullen SS, Diehl AM.   +10 more
europepmc   +1 more source