Results 91 to 100 of about 2,940 (145)

Emergency surgery in chronic intestinal pseudo-obstruction due to mitochondrial neurogastrointestinal encephalomyopathy: case reports [PDF]

, 2010
Pablo Granero Castro, Sebastián Fernández Arias, María Moreno Gijón, Paloma Álvarez Martínez, José Granero Trancón, Jose Antonio Álvarez Pérez, Eduardo Lamamie Clairac, Juan José González González   +7 more
core   +1 more source

Whole-exome sequencing reveals GRHPR gene mutation in a 4-year-old girl with chronic kidney disease: a case report. [PDF]

Ann Med Surg (Lond)
Farooq B, Qureshi ZH, Lodhi MS, Faisal M, Khan E, Khalid M.   +5 more
europepmc   +1 more source

Screening for late-onset Pompe disease in Internal Medicine departments in Spain. [PDF]

Orphanet J Rare Dis, 2023
López-Rodríguez M, Torralba-Cabeza MA, de Pedro IP, Rivera A, Gil RS, Gómez-Belda A, de la Peña JLP, de Los Santos Moreno A, Selva-O'Callaghan A, Gárate IG, García AG, Hurtado R, de Ureta PT, Barba-Romero MÁ, Milisenda JC, Grau-Junyent JM, POMPE study group.   +16 more
europepmc   +1 more source

Assessment of Lectin Staining Biomarkers using a Murine Model of GNE Myopathy. [PDF]

MicroPubl Biol
Parker O, Woods J, Rothkopf M, Drach D, Wetzel HN, Crowe KE.   +5 more
europepmc   +1 more source

Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies. [PDF]

Int J Mol Sci
Ziemian M, Szmydtka J, Snoch W, Milner S, Wojciechowski S, Dłuszczakowska A, Chojnowski JW, Pallach Z, Żamojda K, Węgrzyn G, Rintz E.   +10 more
europepmc   +1 more source

Gne-Depletion in C2C12 Myoblasts Leads to Alterations in Glycosylation and Myopathogene Expression. [PDF]

Cells
Neu CT, Antonopoulos A, Dell A, Haslam SM, Horstkorte R.   +4 more
europepmc   +1 more source

Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations [PDF]

, 2004
BARACCA A, DAVIDSON MM., DIMAURO S, HERNANDEZ-ROSA E, LENAZ G, MELZI D'ERIL GV, PALLOTTI F., SCHON EA, SOLAINI G, WALKER WF   +9 more
core  

<i>GNE</i>-related severe congenital macro-thrombocytopenia in pregnancy. [PDF]

Obstet Med
P S, Pegu B, Subbaiah M, D P, Manivannan P, Dorairajan G.   +5 more
europepmc   +1 more source

Absolute bioavailability and intravenous pharmacokinetics of N-acetyl-D-mannosamine in humans. [PDF]

Br J Clin Pharmacol
Meola TR, Ludbrook G, Fornasini G, Pavlova O, Jain S, Evans AM, Reuter SE.   +6 more
europepmc   +1 more source

Mitochondriopathien [PDF]

, 1993
Beck, A., Damian, M. S., Gold, R., Janetzky, B., Klopstock, Thomas, Maas, J., Naumann, M., Reichmann, Heinz, Seibel, P.   +8 more
core   +1 more source