Results 71 to 80 of about 194 (113)

[When rare diseases become urgent: inborn errors of metabolism in primary care]. [PDF]

Aten Primaria, 2009
González-Lamuño D, Couce ML, Amor Bueno M, Aldámiz-Echevarría L.   +3 more
europepmc   +1 more source

State of the Art and Consensus Statements by Healthcare Providers, Patients, and Caregivers on Continuous Glucose Monitoring in Liver Glycogen Storage Diseases. [PDF]

J Inherit Metab Dis
Derks TGJ, Overduin RJ, Grünert SC, Rossi A, CGM GSD Collaborators Group.   +4 more
europepmc   +1 more source

Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report. [PDF]

Medicine (Baltimore), 2018
Ley-Martos M, Guerrero JM, Lucas-Javato M, Remón-García C, García-Lozano JR, Colón C, Crujeiras P, Rodrigues D, Paúl-Sánchez P, Macher HC.   +9 more
europepmc   +1 more source

Sports-related sudden cardiac death due to myocardial diseases on a population from 1-35 years: a multicentre forensic study in Spain. [PDF]

Forensic Sci Res, 2019
Morentin B, Suárez-Mier MP, Monzó A, Molina P, Lucena JS.   +4 more
europepmc   +1 more source

Integral kidney function assessment in pediatric patients with glycogen storage diseases. [PDF]

Front Pediatr
Reyes-Apodaca M, Consuelo-Sánchez A, Vázquez-Frias R, Rodríguez-Espino BA, Medeiros M.   +4 more
europepmc   +1 more source

Dose-response effect of pre-exercise carbohydrates under muscle glycogen unavailability: Insights from McArdle disease. [PDF]

J Sport Health Sci
Valenzuela PL, Santalla A, Alejo LB, Merlo A, Bustos A, Castellote-Bellés L, Ferrer-Costa R, Maffiuletti NA, Barranco-Gil D, Pinós T, Lucia A.   +10 more
europepmc   +1 more source

Effect of glucose on alpha-glucan degradation in Polyporus circinatus. [PDF]

J Bacteriol, 1981
Oliveira MB, Zancan GT.
europepmc   +1 more source

Donor insertion into CX3CR1 allows epigenetic modulation of a constitutive promoter on hematopoietic stem cells and its activation upon myeloid differentiation. [PDF]

Nucleic Acids Res
Ramos-Hernández I, Fuster-García C, Aguilar-González A, Lozano-Vinagre ML, Guenechea-Amurrio G, Sanchez-Luque FJ, Gonçalves MAFV, Cathomen T, Muñoz P, Molina-Estévez FJ, Martín F.   +10 more
europepmc   +1 more source

[Juvenile Pompe disease: Undescribed genotype. First report in Quintana Roo]. [PDF]

Rev Med Inst Mex Seguro Soc
Flores-Gonzale A, Herrera-Del Valle LE, Lara-Ramírez VR, Marco-Valdez I, Torres-Pedroza AJ, Briceño-Rodas KJ.   +5 more
europepmc   +1 more source

Respuestas y adaptaciones al ejercicio en glucogenosis musculares

La presente tesis doctoral se enmarca en el campo de la fisiología del ejercicio aplicada a enfermedades metabólicas, en particular aquellas que afectan el metabolismo del glucógeno, como las enfermedades de almacenamiento de glucógeno (GSD). Estas enfermedades incluyen varios tipos, entre las que se encuentran la GSD-V (Enfermedad de McArdle) y GSD ...
openaire   +1 more source