Results 121 to 130 of about 1,276 (185)

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

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

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

Multivisceral transplantation for the treatment of mitochondrial neurogastrointestinal encephalomyopathy. [PDF]

Clin Transplant
Rust D, Martinez M, Lagana S, Hirano M, Kato T, Weiner J.   +5 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

A case report of acute intermittent porphyria presenting with reversible cerebral vasoconstriction syndrome. [PDF]

Medicine (Baltimore)
Rao W, Li L, Wu L, Chai W, Li J.
europepmc   +1 more source

Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes. [PDF]

Brain Commun
Beecher G, Gavrilova RH, Mandrekar J, Naddaf E.   +3 more
europepmc   +1 more source